UAB Medicine Magazine - Summer 2017

A Magazine for Alumni and Friends of the School of Medicine

Volume 43 • Number 1 • Summer 2017

PRECISION MEDICINE

REVOLUTION How UAB is using precision medicine and genomic science to confront our greatest health challenges

Matthew Might, Ph.D., is the inaugural director of UAB’s Hugh Kaul Personalized Medicine Institute

DEAN’S LETTER

W

hen I became dean of the School of Medicine in 2013, one of my first priorities was to expand our resources and capabilities in the interrelated fields of precision medicine, genomics, and informatics.

Since then, we have established the UAB Hugh Kaul Personalized Medicine Institute, the UAB-HudsonAlpha Center for Genomic Medicine, and the UAB Informatics Institute.

Each of these programs has made great strides in the years since then.

Both the Personalized Medicine Institute and the Center for Genomic Medicine made their first research grants to UAB faculty for innovative investigations in ovarian cancer and heart disease, among others. Last April, the Informatics Institute celebrated the grand opening of its new home on our campus.

We also announced the Alabama Genomic Health Initiative, one of the first statewide efforts in the country to harness the power of genomic analysis in routine medical practice (learn more about the initiative on page 20).

A series of successful recruitments continues to build our core of expertise in these emerging fields. The Informatics Institute has welcomed a new director, James Cimino, M.D., who joined UAB from the National Institutes of Health, and an associate director, Jake Chen, Ph.D., who came to us from Indiana University.

This summer, Matthew Might, Ph.D., an innovative leader in precision medicine appointed to the Obama administration’s Precision Medicine Initiative, will become director of the Hugh Kaul Personalized Medicine Institute (learn more on page 8).

The new chair of the Department of Pathology also has a strong background in precision medicine. Georges Netto, M.D., joined UAB from Johns Hopkins University School of Medicine in October. His primary research focus is the evaluation of molecular biomarkers as potential markers of detection, prognosticators, and therapeutic targets in the management of urologic cancers.

He is also recognized for his expertise in molecular diagnostics of solid tumors.

In the years to come, there is no area of medicine that will not be transformed by the increasing diagnostic and therapeutic effectiveness precision medicine enables, the new knowledge we glean from genome sequencing, and the leveraging of vast caches of biomedical data through informatics.

We intend to stay at the forefront of this revolution.

Sincerely,

A Magazine for Alumni and Friends of the School of Medicine Volume 43 • Number 1 • Summer 2017

SCHOOL LEADERSHIP Senior Vice President and Dean Selwyn M. Vickers, M.D., FACS Executive Vice Dean Anupam Agarwal, M.D.

DEVELOPMENT AND COMMUNITY RELATIONS Vice President for Development and Alumni Affairs Thomas I. Brannan Executive Director of Development for the School of Medicine Jackie F. Wood Comprehensive Cancer Center Lisa E. Roth Comprehensive Diabetes Center Erica L. Hollins Departments of Anesthesiology, Dermatology, and Radiology Jackie F. Wood Department of Medicine Megann B. Cain, Christian Smith, Christopher Williamson Department of Obstetrics and Gynecology Erica L. Hollins Department of Ophthalmology; Callahan Eye Hospital Morgan Robinson Departments of Neurology and Psychiatry Katherine G. Tully, Nicky Bennett Departments of Surgery and Neurosurgery Leon H. Ryan III Medical Student Scholarships; Primary Care Jessica Brooks Lane Friends and Family Program Ivy Watson Cardwell Contact Information (205) 975-5659 • somdev@uab.edu

ALUMNI ASSOCIATION BOARD OF DIRECTORS President Timothy P. Hecker, M.D. ’04 President-Elect John R. Wheat, M.D. ’76 Secretary/Treasurer Rebecca R. Byrd, M.D. ’95 Immediate Past President Pink Lowe Folmar, Jr., M.D. ’72 District Representatives First - J. Donald Kirby, M.D. ’72 Second - James H. Alford, M.D. ’63 Third - George C. Smith Sr., M.D. ’65 Fourth - Alice H. Morgan, M.D. ’82 Fifth - P. Michael Caruso, M.D. ’76 Sixth - Kirby I. Bland, M.D. ’68 Seventh - Michael A. Callahan, M.D. ’71 At Large V. Michael Bivins, M.D. ’96 Julia L. Boothe, M.D. ’02 Theodis Buggs, Jr., M.D. ’80 Alan R. Dimick, M.D. ’58 Mark H. LeQuire, M.D. ’82 Wick J. Many, M.D. ’73 Ex-Officio J. Terrell Spencer, M.D. ’68 Executive Director Meredith Burns Assistant Director Brenda Joseph Program Coordinator Beth Eddings Contact Information (205) 934-4463 • office@alabamamedicalalumni.org

UAB MEDICINE STAFF

Selwyn M. Vickers, M.D., FACS

Senior Vice President for Medicine and Dean James C. Lee Endowed Chair

Executive Director of Communications, UAB School of Medicine Paige Dorman Editor Jane Longshore Art Director Kristin Farmer Associate Editor Emily Henagan Writers Amy Bickers, Ryan Broussard, Kendra Carter, Cary Estes, Tara Hulen, Nancy Mann Jackson, Tim L. Pennycuff, Cindy Riley, Bob Shepard, Gail Allyn Short, Sarah C.P. Williams Photography Nik Layman, Dustin Massey, Steve Wood Multimedia & Graphic Design Kristin Farmer Contact Information (205) 934-0256 • somdev@uab.edu

INSIDE

FEATURES 8 CODEBREAKER A deeply personal quest made Matthew Might a leader in precision medicine and brought him to UAB

12 14

8

CUTTING-EDGE COLLABORATION

Strata Trial expands tumor sequencing and treatment options for cancer patients

A PRESCRIPTION FOR PRECISION

Using genetic testing to guide drug therapy may revolutionize the treatment of everything from heart disease to depression

16

PRECISION MEDICINE MILESTONES

18

DISEASE DETECTIVES

20

STATE OF HEALTH

Key moments in the development of genomic science and precision medicine A team of UAB experts works to solve medical mysteries UAB is leading a unique effort to leverage the power of genomic analysis in routine clinical practice

DEPARTMENTS IN BRIEF 2 Telehealth advances, Parkinson’s and the microbiome, preserving astronauts’ eyesight, and more

24

22 24

New associate dean brings fresh outlook to medical school admissions

30

36

UABSchoolofMedicine UABSOM UAB.edu/medicine © 2017 by the Board of Trustees of University of Alabama System for the University of Alabama at Birmingham. UAB is an EEO/AA/Disability/Veteran Employer.

MEDICAL TRAINING

Anatomy training gets a reboot with an emphasis on team-based learning and high-tech tools The Class of 2017 celebrates Match Day and looks ahead to residency training

34 CONNECT WITH US

UAB’s new Integrative Medicine Clinic addresses patients’ needs in body, mind, and spirit

29

32

CLINICAL CARE

40

STUDENT SPOTLIGHT

Medical students chosen for newest class of Alabama Schweitzer Fellows

INVESTING IN INNOVATION

Anonymous gift propels multiple sclerosis research and care.

Plus, parents’ nightmare turns into inspired gift; art moves cancer survivor to give back; School of Medicine Alumni Campaign reaches exciting milestone

ALUMNI PROFILES

Katisha Vance, M.D., Class of 2000, turned personal loss into career motivation; Timothy Hecker, M.D., Class of 2004, takes the reins as president of the Medical Alumni Association

ACROSS CAMPUS

UAB physician-turned-novelist publishes thriller; School of Medicine collaborates on new undergraduate programs; new Primary Care Track begins taking applications; and more

FROM THE ARCHIVES

Highlights from the history of the UAB Medical Genetics Program

IN BRIEF

IN BRIEF News and highlights from across the School of Medicine

PRESERVING ASTRONAUTS’ VISION Many astronauts can experience changes in vision while traveling in space, with some changes persisting years after they have returned home. Brian Samuels, M.D., Ph.D., assistant professor in the Department of Ophthalmology, and collaborators from the Georgia Institute of Technology and Emory University have received a grant to study computational modeling as a method of determining why astronauts who are in space for extended periods of time experience eye problems.

Samuels is collaborating with scientists at the NASA Glenn Research Center and others to help identify the cause of these pathologies and determine whether there is a way to intervene and prevent these types of vision complications in the future.

“We are trying to incorporate all of the existing clinical and research data into functional computational models of the eye itself, the central nervous system, and the cardiovascular system to determine how they are interacting,” Samuels says.

THREAT Scientists from the UAB School of Medicine and the University of Notre Dame have developed a new method that enables researchers to radiolabel three forms of perfluorinated and polyfluorinated alkyl substances (PFASs) and track them in the body. These PFASs, which are known to be harmful to humans, have been found in fast food wrappers at many popular chain restaurants.

In the newly designed method, one of the fluorine atoms on the PFAS molecule was replaced with a radioactive form of fluorine, the same radioisotope fluorine-18 that is used for medical positron emission tomography (PET) scans in hospitals. “For the first time, we have a PFAS tracer or chemical that we have tagged to see where it goes in mice,” says Suzanne Lapi, Ph.D., senior author of the study published in the Journal of Environment Science and Technology. Lapi is an associate professor in the UAB Department of Radiology and director of UAB’s Cyclotron Facility. “Each of the tracers exhibited some degree of uptake in all of the organs and tissues of interest that were tested, including the brain. The highest uptake was observed in the liver and stomach, and similar amounts were observed in the femur and lungs.”

Diseases including kidney and testicular cancers, thyroid disease, low birth weight and immunotoxicity in children, and other health issues have been linked to PFASs in previous studies.

GENETIC CLUES TO KIDNEY DISEASE UAB researchers have identified two genes, C1GALT1 and C1GALT1C1, which contribute to the chronic kidney disease IgA nephropathy. This provides new genetic clues to understanding IgA nephropathy, an autoimmune kidney disease that commonly causes kidney failure. The findings are relevant to IgA nephropathy and other diseases with similar underlying molecular defects, such as inflammatory bowel disease, certain types of blood disease, and cancer.

The study, conducted by researchers at Columbia University and the UAB School of Medicine, was published in PLOS Genetics.

The genes that were identified are involved in attaching a certain sugar to proteins, including lgA1 in a process called O-glycosylation.

—2—

UAB Medicine | Summer 2017

IN BRIEF

LONG-DISTANCE CARE

ARRESTING ALZHEIMER’S

Eric Wallace, M.D., nephrologist and assistant professor in the Division of Nephrology, has been named medical director for telehealth at UAB. Wallace is teaming with Bart Kelly, who was named executive director of telehealth in July 2016, to help create a statewide telehealth network and develop policy at the local, state, and federal levels.

Telehealth incorporates video technology to facilitate a two-way, real-time interactive communication between the patient and physician or between physicians. Because reaching rural areas of the state is crucial to telehealth efforts, the Alabama Department of Public Health began developing a statewide telehealth network at county health departments in 2015 to work with UAB and other medical partners. There are now more than 20 telehealth-ready ADPH county health department sites in Alabama. An additional 19 sites are scheduled to be added to the network.

Wallace will oversee the implementation plan for telehealth sites across Alabama, utilizing the ADPH county health department sites, multiple physician offices, and hospitals around the state. He will assist UAB physicians in the design and creation of telehealth programs, and also will provide training for physicians, nurses, staff, and emergency medical services providers working with the UAB Telehealth network utilizing the ADPH county health department sites, physician offices, nursing facilities, and other hospitals around the state.

Alzheimer’s researchers are increasingly focusing on prevention, and a groundbreaking study at UAB being conducted in healthy people age 65 to 85 is looking for subtle changes in the brain before symptoms appear. The A4 Study (the Anti-Amyloid in Asymptomatic Alzheimer’s Study, ) is testing for an elevated level of the protein amyloid in the brain. Scientists believe that elevated amyloid may play an important role in the eventual development of memory loss and Alzheimer’s. PET imaging can reveal an amyloid buildup before symptoms appear. The A4 study is testing a medication, solanezemab, that may help reduce the amount of amyloid. Learn more at A4study.org.

“At present, we can’t reverse the symptoms of dementia,” says David Geldmacher, M.D., the Warren Family Endowed Chair in Neurology and director of the UAB Memory Disorders program. “Our focus now is on recognizing Alzheimer’s disease early enough that we can take steps to slow its progression.

With advanced imaging equipment and research techniques now available, we can spot Alzheimer’s before symptoms emerge and take action.”

The UAB Alzheimer’s Disease Center conducts a broad spectrum of clinical research, ranging from understanding normal changes in memory and thinking, through Alzheimer’s prevention and treatment, to optimizing dementia care through approaches like precision medicine-guided treatments and telemedicine coaching for caregivers.

Nearly

5.4 million

Contributing writers: Tyler Greer, Jeff Hansen, Jessica Martindale, Bob Shepard

Americans suffer from Alzheimer’s disease

including

89,000 people in Alabama PREVENTING PTSD

Neurobiologist Lynn Dobrunz, Ph.D., has discovered a novel mechanism for how stress-induced anxiety—the type of experience that can produce post-traumatic stress disorder (PTSD)—affects circuit function in the hippocampus area of the brain where aversive memories are formed. These studies

by Dobrunz and colleagues fill an important gap in knowledge about the molecular, circuit, and behavioral effects of the brain-signaling molecule called neuropeptide Y. The findings, published in the Journal of Neuroscience, could pave the way for new therapeutic targets to increase neuropeptide Y release in the appropriate brain pathway for patients with anxiety disorders.

Increased levels of neuropeptide Y are well-known to produce anxiety-relieving effects. In contrast, the levels of

neuropeptide Y are reduced in people with PTSD and other anxiety disorders.

Until now, the mechanism of how changing levels of neuropeptide Y alters circuit function to reduce or increase anxiety behavior has not been known.

Besides describing a mechanism for that, the UAB researchers also show that the stress of exposing mice to a predator scent—a compound found in the feces of foxes—prevents the release of neuropeptide Y, potentially enhancing anxiety. About 3.5 percent of the U.S. population is estimated to have PTSD in a given year.

—3—

IN BRIEF

GUT REACTION

EXERCISE AS MEDICINE

The UAB Center for Exercise Medicine opened a state-of-the-art Exercise Clinical Trial Facility in February to provide equipment and staff for researchers studying the role of exercise as medicine. “We have developed a much greater appreciation of the role of exercise in human health,” says Marcas Bamman, Ph.D., professor in the Department of Cell, Developmental and Integrative Biology and director of the Center for Exercise Medicine.

“This is not about exercise for weight loss or simply feeling better; rather, we are striving to understand the role of exercise as medicine at the molecular, cellular, and clinical levels.

“It’s not enough to simply tell someone they should exercise more. We need to be able to present precise exercise prescriptions to patients that include evidence-based dosing.”

The facility includes: • An exercise training zone with 24 resistance exercise stations, Olympic barbells, dumbbells, more than 2,000 pounds of free weights, seven stationary cycle ergometers, nine treadmills, and two rowing machines.

• A cardiorespiratory function laboratory offering 12-lead ECG graded exercise stress testing, aerobic and anaerobic power measurement, and cardiorespiratory and metabolic demand tests during submaximal exercise such as walking, running, cycling, or stair climbing.

• A neuromuscular function laboratory for the study of joint kinematics and kinetics, strength and force measurements, muscle fatigue testing, and muscle activation, as well as balance and gait analysis.

CUTTING CANCER DISPARITIES

Earlier this year, UAB received a five-year, $16.6 million renewal grant from the National Cancer Institute for a partnership between the UAB Comprehensive Cancer Center, Morehouse School of Medicine, and Tuskegee University that addresses cancer disparities among African-Americans.

“Culture, environment, health care access, socioeconomics, and population-specific genetic differences contribute to high cancer incidences and to cancer health disparities,” says Upender Manne, Ph.D., lead principal investigator and professor in the UAB Department of Pathology. “Our efforts are focused on answers to these problems. We use a persistent, multifaceted strategy, combining multidisciplinary approaches to unravel the molecular basis for cancer disparities, training of health professionals and community health educators across the cancer care continuum, and accelerating the development of cancer scientists.”

—4—

UAB Medicine | Summer 2017

Increasing evidence connects Parkinson’s disease and the composition of the gut’s microbiome. A study from UAB researchers shows Parkinson’s disease and medications to treat Parkinson’s have distinct effects on the composition of the bacteria that compose the gut microbiome. The findings were published in Movement Disorders, the journal of the International Parkinson and Movement Disorder Society.

“Our study showed major disruption of the normal microbiome—organisms in the gut—in individuals with Parkinson’s,” says Haydeh Payami, Ph.D., holder of the John T. and Juanelle D. Strain Endowed Chair in Neurology and professor in the Department of Neurology.

“Our study showed major disruption of the normal microbiome in individuals with Parkinson’s.”

— HAYDEH PAYAMI, PH.D. Payami says researchers do not yet know whether having Parkinson’s causes changes in an individual’s gut microbiome, or changes in the microbiome are a predictor of Parkinson’s. However, the first signs of Parkinson’s are often gastrointestinal symptoms, such as inflammation or constipation.

IN BRIEF

RANKINGS REPORT UAB National Science Foundation Rankings 2015

#18 IN FEDERALLY #34 OVERALL FUNDED RESEARCH IN FEDERALLY FUNDED $328.5M RESEARCH TOTAL RESEARCH $516+M INEXPENDITURES IN FEDERAL RESEARCH FUNDING AMONG U.S. PUBLIC UNIVERSITIES

Contributing writers: Tyler Greer, Jeff Hansen, Viktoria Havasi, Bob Shepard, Beena Thannickal

UAB National Institutes of Health Funding Rankings 2016

#25 OVERALL NATIONALLY #22 FOR THE SCHOOL OF MEDICINE $238M IN GRANTS TO UAB GRANTS TO THE $186M INSCHOOL OF MEDICINE UAB School of Medicine programs in the 2018 edition of the U.S. News & World Report Best Graduate Schools Guidebook

#35 #31 #15

SCHOOL OF MEDICINE FOR RESEARCH PRIMARY CARE PROGRAM GERIATRICS PROGRAM —5—

CF ADVANCE Though the gene responsible for cystic fibrosis (CF) was discovered in 1989, it has taken researchers nearly 25 years to develop the first causative treatment for one type of cystic fibrosis. For many cystic fibrosis patients, specific treatment for their individual gene is still not available.

A step forward came in March when Vertex Pharmaceuticals announced successful Phase III trials that were conducted partly at UAB. Steven Rowe, M.D., MSPH, holder of the Nancy R. and Eugene C. Gwaltney Family Endowed Chair in Medical Research and director of the Gregory Fleming James Cystic Fibrosis Research Center, was part of the international leadership team.

This newly developed drug —a “corrector-potentiator” combination drug using the Vertex drugs Tezacaftor and Ivacaftor—may lead to a healthier future for cystic fibrosis patients.

In these recent Phase III trials, Vertex Pharmaceuticals examined the efficacy of this new combo drug in 24-week and eight-week studies using two patient groups: one that received the drug and one that received a placebo. In both trials, the drug-treated group showed greater lung function improvement compared to the placebo-treated group.

Additionally, patients in the drug-treated group did not report more serious side effects than the placebotreated patients.

IN BRIEF

ADVANCING

TRANSPLANT E XCELLENCE With organ transplants performed at UAB and across the U.S. reaching record highs in 2016, amazing advances are taking place. In December, a Mississippi man became the eighth patient in the U.S. to receive a HIV-positive to HIV-positive deceased donor transplant. UAB Hospital is the first in the Deep South to achieve an HIV-positive to HIV-positive transplant and only the fourth hospital in the country to do so. These transplants were made possible in part by the HIV Organ Policy Equity (Hope) Act, bipartisan legislation signed by former President Barack Obama in 2013 that enabled HIV-positive people to be organ donors upon death.

UAB is one of 20 centers approved to perform HIV-positive to HIV-positive transplants out of the 272 kidney transplant centers in the U.S. UAB joins Johns Hopkins University in Baltimore, Mount Sinai in New York, and the University of California-San Francisco as the other transplant centers in the country to perform HIV-positive kidney or liver transplants.

“This is a great achievement for many reasons and especially for our patient who did not have to endure years of dialysis and will now have a chance to live a longer, healthier life,” says Jayme Locke, M.D., surgical director of UAB’s HIV Transplant Program and transplant surgeon on the case.

A UAB study led by Locke that appeared in the Clinical Journal of the American Society of Nephrology found that HIV-infected individuals with kidney failure are less likely to receive a kidney transplant—especially from living donors— than their uninfected counterparts.

Learn more about these and other UAB School of Medicine news stories at www.uab.edu/medicine/news.

The Alabama Organ Center had a record year in 2016, with ORGAN DONORS DONATING 425 ORGANS UPON DEATH, a 24% increase from 2015

153 UAB performed

385 transplants in 2016—an increase of more than 4% from 2015

This includes a

25% increase

in the volume of liver transplants performed at UAB Hospital

33,606

transplants were reported nationwide

—6—

UAB Medicine | Summer 2017

CODEBREAKER A deeply personal quest made Matthew Might a leader in precision medicine and brought him to UAB

BY CARY ESTES

FEATURE

hen Matthew Might, Ph.D., looks at the biology of the human body, he doesn’t see cells or DNA. He sees a computer and individual programs. He sees a deep trove of data filed away in a personal operating system that is unique to each individual—data that can be mined to unlock potential treatments for a wide array of diseases, common and rare.

Might’s perception stems from his passion for computers. He received a master’s degree and Ph.D. in computer science from Georgia Tech, and spent nine years as a professor at the University of Utah’s School of Computing. But a turn of events in his personal life led Might to realize that his way of thinking can be beneficial in the world of medicine, particularly in the growing field of precision medicine.

Might is working on ways to use computational technologies such as genomic sequencing to discover the best way to treat a specific person’s specific disease. It is medicine at its most precise: customized treatment designed expressly for each individual.

“It’s the difference between treating the disease and treating the patient,” Might says. “I tell people that what I’m developing is the algorithm for precision medicine. It’s a computer program, but the input is the patient.”

This innovative approach led former President Barack Obama to appoint Might to the White House Precision Medicine Initiative in 2016. Might was also a visiting professor in the Department of Biomedical Informatics at Harvard Medical School, in addition to serving as a Presidential Scholar and associate professor in both computer science and pharmaceutical chemistry at the University of Utah.

Earlier this year, Might was named the inaugural director of the Hugh Kaul Personalized Medicine Institute at the UAB School of Medicine, a position he assumes July 1. He says the opportunity to come to UAB was attractive because he believes “this is an institution where I can collaborate to drive a vision for precision medicine.” It is a vision that came into stark focus for Might on one of the happiest days of his life: the day he first saw his son shed tears.

Diagnostic Wilderness

After a national search, Matt Might was named the inaugural director of UAB’s Hugh Kaul Personalized Medicine Institute. He officially starts at UAB this July.

Might and his wife, Cristina, celebrated the birth of their first child on Dec. 9, 2007. They named him Bertrand, in honor of British mathematician Bertrand Russell. But celebration soon turned to concern, as it quickly became apparent that something was wrong with the infant.

Within weeks of his birth, Bertrand showed signs of having a movement disorder. His body twitched and shook. Eventually, he began having full-blown seizures every day. Often he would simply howl in distress, and attempts to comfort him just made him shriek even louder.

“He was a miserable kid—always in pain, never happy,” Might says.

Furthermore, Bertrand was unable to cry. He could scream and yell, but actual tears never formed in his eyes. This painfully despondent child could wail, but not weep.

The Mights spent the next four years on a diagnostic odyssey trying to figure out exactly what was wrong with their son. An MRI ruled out brain damage, and testing repeatedly disproved other theories. Eventually, as the medical professionals began to run out of suggestions, the Mights started doing their own research.

In 2012, the Mights and Bertrand all underwent exome sequencing—a type of DNA sequencing that focuses on the expressed genes in a genome, known as the exome—in an

—9—

FEATURE

attempt to find any gene mutations that might have caused his disease. Sure enough, they discovered Bertrand had mutations that had destroyed the function of the NGLY1 gene.

“It turns out he was the first human ever diagnosed with missing this gene and to have it linked to a disease,” Might says. “Our son was literally patient zero. Then the question became, what do we do with that information? We now know the exact molecular cause of this disease. Can we treat it?”

It turns out he was the first human ever diagnosed with missing this gene and to have it linked to a disease. Our son was literally patient zero. Then the question became, what do we do with that information?”

— MATTHEW MIGHT, PH.D. The Mights then needed to better understand the constellation of disorders caused by the genetic mutation and pathways to potential therapies. To achieve that, they needed to attract the attention of researchers, pharmaceutical companies, and the FDA. To achieve that, they needed to find more people with this ultra-rare disease.

Years earlier, Might had created a viral phenomenon with an online blog post called “The Illustrated Guide to a Ph.D.,” which was eventually translated into dozens of languages. He took lessons he had learned about viral marketing, search engine optimization, and leveraging social media and applied them to his search for more people like Bertrand.

In May 2012, he posted an essay to his personal website titled “Hunting Down My Son’s Killer.” The post was shared on social media and Reddit within hours. The next day, Might was contacted by the editor of Gizmodo, an influential tech blog, who asked for permission to republish it. Within 24 hours, the post had gone viral.

The exposure worked. Over the next few months, Might was contacted by other families struggling with the NGLY1 deficiency and researchers volunteering to help. Further tests revealed that without a functioning NGLY1 gene, Bertrand was deficient in a sugar called N-acetylglucosamine, which is a derivative of glucose. Far from being a rare resource, N-acetylglucosamine can be purchased on Amazon. Might ordered some and, after taking it himself with no ill effects, he began giving it to his son.

A mere three days later, Might walked into his son’s room and witnessed an incredible sight: Bertrand was crying. Not yelling—crying, with actual tears rolling down his cheeks.

“It was amazing to walk in at that moment and see him crying,” Might says. “They may have just been tears, but they were an ocean of science for the disease. They unlocked so much about this disorder.”

Science Becomes Action

The long, winding path to help Bertrand and other families looking for answers has led Might’s career in new, often surprising directions. The family’s story was told in a lengthy article in The New Yorker in 2014, which precipitated calls from Harvard Medical School and the Obama administration.

“You could say I started focusing on precision medicine the moment he was born and we realized something wasn’t right,” Might says. “I couldn’t help but want to figure it out. When it’s your kid and you know there’s nobody else in the world who can do anything for him, you just start doing it yourself. That was my introduction to precision medicine.”

At its core, Might’s vision for precision medicine is simple: Because every person has certain unique characteristics within his or her molecular makeup, no medicine or treatment will work the same way on every person even if two people have the same type of disease. Rather than focus on the disease, one should focus on the patient and what is happening inside his or her cells.

“With precision medicine, we want to treat diseases at the root cause by focusing on individual genes driving the disease,” Might says. “When we design a therapy for you, we hit the genes that are driving your disease, and that can be totally different from patient to patient with the same disease.”

For example, if a patient has lung cancer, gene sequencing of a tumor sample can tell doctors which genetic mutations are causing the cancer. “Every time you sequence a patient’s tumor, you get a snapshot of the genetic drivers of that patient’s cancer. And they can be completely different between any two patients, even if they both have the same type of cancer,” Might says. “Because there’s something completely different driving those cancers, the treatment might be completely different.”

Even if the ideal drug for a specific patient is not immediately apparent, Might says it is much easier to find the correct drug through precision medicine than through the trial-and-error approach that is commonly used.

“A big component of all this is going to be repurposing— testing drugs that are already FDA approved and finding out whether they have other effects that work for you and your condition,” Might says. “Most drugs don’t do only what they’re designed to do. They all have side effects, and sometimes those side effects are clinically beneficial for some other disease. We can take all these approved drugs and reuse them in very creative ways, for diseases they were never originally intended to treat but actually do.”

Of course, no patient wants to wade through medication after medication and their side effects, searching for one that helps him or her. That is where genomic testing puts the precision in precision medicine.

“We can take this giant FDA-approved library of several thousand drugs and drop them on a patient’s diseased cells, and see if anything pushes them back toward healthy,” Might says. “That’s going to be the essence of the early stages of precision medicine. We’re going to do a lot of that at UAB.”

— 10 —

UAB Medicine | Summer 2017

FEATURE

PRECISION PARTNERS Philanthropic support has been key to the growth of UAB’s precision medicine programs. In 2015, the Hugh Kaul Foundation donated $7 million to establish the Hugh Kaul Personalized Medicine Institute at UAB. This followed nearly $9 million in gifts from the foundation to UAB, including the lead gift for the Hugh Kaul Human Genetics Building, home to an interdisciplinary group of faculty focused on basic laboratory and clinical research, patient care, and state-of-the-art genetic testing.

What Lies Ahead

Might says drug discovery and development will likely also become more of a customized process, especially with rare genetic diseases. “Right now, a disease comes in to a pharmaceutical company. It goes through this entire process of screening and targeted identification and a series of clinical trials, and eventually a drug might pop out,” Might says. “The problem is it’s a risky endeavor, and you have to have these huge drug companies willing to shoulder the risk all the way through the process.

“So what’s going to happen is, you’re going to have firms and labs that will just do one part of the puzzle.

They’ll do just the screening or just the targeted identification, and patients and patient foundations will push for drug development from stage to stage on their own.

“Patients are very motivated to move the process from stage to stage, whereas a drug company might just shut it down if something doesn’t work. So I see a big role for patient foundations going forward in precision medicine, particularly in rare diseases. They will serve as drivers that will push drugs all the way through the process, because patients don’t lose interest.”

For Might, this entire endeavor began with one very special patient.

The birth of Matt and Cristina Might’s first son Bertrand (bottom left) in 2007 brought joy and, later, concern when the child began to show signs of movement and other disorders. The couple’s efforts to help Bertrand in part led Matt to become a leader in precision medicine.

Now, he says he believes the world of medicine will be transformed and UAB will be at the forefront of this revolution.

He looks forward to collaborating with UAB’s Comprehensive Cancer Center, Informatics Institute, Center for Genomic Medicine, and Undiagnosed Diseases Program, among others, as well as partner organizations like Southern Research and HudsonAlpha Institute for Biotechnology.

“We’ve established a blueprint of how we can use precision medicine to go from disease discovery to therapeutic identification within one year,” Might says. “We’re bringing this blueprint to UAB and scaling it up in a really big way.

“UAB is a place where we can do it all right here. We can take a patient, do deep analysis of their genome, and find the right drug for them. Moreover, UAB leaders are making substantial commitments to make precision medicine a reality for patients in Alabama much sooner than it will be a reality anywhere else in the country.”

— 11 —

Last year, the Altec Styslinger Foundation generously committed a transformational gift to assist with the construction of the Altec Styslinger Genomic Medicine and Data Sciences Building at UAB. The building is planned as part of a larger research and academic crescent, which has the potential to help UAB secure an estimated $48 million in additional NIH funding.

The development has the potential to create hundreds of new jobs and have a substantial economic impact on the city of Birmingham, in addition to the disease-modifying and life-saving therapies that may result from research housed there.

“This is the future of medicine, and thanks to the generosity of our philanthropic partners, UAB is positioned to lead the way in precision medicine,” says Selwyn M. Vickers, M.D., FACS, senior vice president for medicine and dean of the School of Medicine.

“These initiatives will help us transform the advancement of medicine—expanding research into the genetic factors related to diseases and allowing us to precisely target treatments based on a patient’s unique genetic makeup. The knowledge gained will be transformative for Alabama and the nation.”

FEATURE

CUTTING-EDGE COLLABORATION Strata Trial expands tumor sequencing and treatment options for cancer patients

BY SARAH C. P. WILLIAMS

Above: Eddy Yang is the UAB leader for the Strata Oncology Trial, which provides no-cost tumor sequencing and clinical trial matching for advanced cancer patients.

nder the microscope, samples from two different patients’ pancreatic tumors may look similar—clumps of abnormally shaped cancer cells and empty spaces where healthy cells have died. But months after a pathologist has peered at these cells and diagnosed cancer, one patient’s tumor may have shrunk in response to treatment, while the other’s continues to grow after undergoing the same treatment. What accounts for the difference? Most likely, each tumor is fueled by different genetic mutations or tweaks to the DNA inside each cell.

For the past few years, UAB has offered a select subset of advanced cancer patients the option to gene sequence their tumor, with the hope that it will give clinicians insight into how to treat it. Now, the UAB Comprehensive Cancer Center is one of the first two institutions to partner with Michigan-based Strata Oncology on a trial that makes this service accessible to even more patients. As part of the Strata Oncology Trial, Strata will provide no-cost tumor sequencing to cancer patients at UAB who have tumors that can’t be removed surgically or have spread to another part of the body. It is also available to all glioblastoma and pancreatic cancer patients, although any tumor type is eligible, and the trial includes clinical trial matching. “This effort allows patients to find more treatment options, because they can potentially go on clinical trials based on genetic markers the sequencing may reveal,” says Eddy Yang, M.D., Ph.D., ROAR Southeast Cancer Foundation Endowed Chair in Radiation Oncology and vice chairman for translational science in the Department of Radiation Oncology. “We will look for key mutations or changes in copy number of cancer genes, and based on that, match the patient to the best possible clinical trial, or most innovative therapy available.”

“Insurance doesn’t traditionally cover next-generation sequencing, which costs $3,000 to $4,000 per test, so it has been fairly prohibitive for the public to pay for it out of pocket,” says Edward Partridge, M.D., the Evalina B. Spencer Chair in Oncology and retiring director of the UAB Comprehensive Cancer Center. Now, he points out, cost will no longer be an issue for patients who qualify for the Strata Trial.

Strata plans to sequence 100,000 patients across the country in the next three years.

— 12 —

UAB Medicine | Summer 2017

FEATURE

Precision Targeting

Fueling Discovery

Because of the furious drug development that’s occurring, sometimes what we’re trying to do is buy patients enough time to get to the next treatment.”

Enhancing Knowledge

The idea behind all precision medicine is to take individual variation—genetic, environmental, and lifestyle—into account when treating disease. When it comes to cancer, precision medicine most often means diagnosing and treating a tumor based on its genetic profile rather than its location in the body or appearance.

Before the Strata Trial launched at UAB this February, Yang helped establish UAB’s Molecular Tumor Board (MTB) in 2013. This group of physicians and geneticists, which was pilot funded by UAB Hospital and Blue Cross and Blue Shield of Alabama, reviews cases of patients whose advanced cancer has failed to respond to treatment, and the group decides whether to sequence the tumors. The MTB also interprets the gene sequencing results and determines the proper course of action. While the Strata Trial has made gene sequencing available to more cancer patients, the MTB remains integral to UAB’s cancer precision medicine efforts, Yang says. “We continue to meet monthly, and we use the MTB to discuss Strata results and recommend treatment for patients if something is found through sequencing,” he notes.

— EDDY YANG, M.D., PH.D. One of the first patients whose tumor was sequenced at UAB was a patient with salivary gland cancer. “The patient really had no treatment options left,” says Yang. But DNA sequencing revealed that the tumor had a mutation more often seen in melanoma, a form of skin cancer. Therefore, Yang and his colleagues recommended treatment with the melanoma regimen. “The cancer responded pretty well,” says Yang. “The patient was in remission for more than a year.”

That kind of anecdote is the ultimate cancer treatment success story from a precision medicine perspective. But, sadly, it’s not always the outcome. “Sequencing isn’t a magical cure at this point; we’re not going to find drugs for every person whose tumor we sequence,” says Yang. “But we may be able to offer better treatment options for some patients.”

In some instances, the goal is simply to give a patient enough time to allow existing drug development efforts to advance. “Because of the furious drug development that’s occurring, sometimes what we’re trying to do is buy patients enough time to get to the next treatment,” Yang says. “We have patients for whom we found an actionable mutation that we treated before immunotherapies were approved, and we were able to bridge them to the point where immunotherapy became approved. So it’s this idea that, can we buy our patients enough time for another drug to get approved?”

The idea behind precision cancer treatment sounds straightforward: Sequence a tumor’s DNA, or measure levels of another molecule of interest, and treat the cancer based on those results. But it’s not as easy as it sounds. Over time, the genetic mutations in a tumor can change. Different cancer cells within the same person can have different genetic mutations, and multiple mutations can work together to influence a tumor’s behavior.

Much more research is needed to determine when genetically sequencing a tumor proves most worthwhile and how to follow a tumor’s progression and adapt treatment plans accordingly. Some scientists are studying how to isolate cells from patients’ blood that have sloughed off a tumor and are circulating through the body. Others are trying to discover new gene mutations associated with cancers or develop drugs that reverse the effects of those mutations.

All precision medicine research projects have one need in common: large amounts of patient data. By looking at the DNA of tens of thousands of patients, researchers can make new connections between the genes—or proteins—of patients and the drugs they respond to. They can also see how patients’ cancers progress. Ultimately, the Strata Trial plans to sequence tumors for 100,000 advanced cancer patients across all its network sites.

The new collaboration between UAB and Strata aims not only to guide patients through their individual sequencing results, but also to help propel research. Physician-scientists will use genetic tumor data gathered as part of the Strata Trial for future research projects. “Strata will be reporting genetic abnormalities to us that are significant for how we treat patients,” says Partridge. “But we’re also looking at genes beyond those.”

If UAB can collaborate with other institutions across the country and world, researchers everywhere will benefit from the sequencing of patients at UAB. “We serve an ethnically diverse population, and research in a lot of other places often doesn’t capture that diversity,” says Yang. When it comes to precision medicine, diversity is critical. By studying genes or cancer progressions in only one uniform population, results are skewed and cannot be applied to a broader population.

Not every cancer patient at UAB will currently qualify for genetic sequencing, and not every patient whose tumor is sequenced will find a new, winning treatment strategy to send him or her into remission. However, precision medicine is a rapidly developing field. Projects like the Strata Trial are pushing it forward and trying to help as many people as possible, says Partridge.

“We’re in the infancy of drug development for precision medicine in cancer, but new genes are being discovered every day, and new drugs are being developed to target those genetic abnormalities,” Partridge says. “I think it’s really only a matter of time before we treat all cancers based on their genomic abnormalities rather than where they originated or what they look like under the microscope.”

— 13 —

A PRESCRIPTION FOR PRECISION Using genetic information to guide drug therapy may revolutionize the treatment of everything from heart disease to depression

BY SARAH C.P. WILLIAMS hether prescribing a medication to lower blood pressure, ease pain, or treat anxiety, a doctor relies on a few key pieces of patient information to determine the proper medication and dosage. A patient’s symptoms, medical history, age, and weight will likely influence the doctor’s decision. In the near future, though, there may be another critical element to determining a person’s correct prescription: his or her genetic profile.

Clinicians have long known that people respond to drugs in different ways. Two patients with the same disease who present identical symptoms may have opposing responses to the same treatment.

One patient may have more serious side effects, or the drug may not work in one patient despite being effective in the other.

“If you look at some of the blockbuster drugs we use to treat common diseases like asthma, diabetes, and depression, they only work in about 40-50 percent of patients,” says Nita Limdi, Pharm.D., Ph.D., MSPH, a professor in the UAB Department of Neurology. That means many patients’ conditions go untreated, or they have to try drug after drug to get their symptoms under control. But Limdi says there’s a way to change that: genetic tests.

Limdi works alongside a growing cadre of other UAB researchers in the burgeoning field of pharmacogenomics, which aims to find links between patients’ genes—their DNA—and their response to drugs. By using this information to match the right

— 14 —

Left to right: Richard Shelton and Nita Limdi are studying the effectiveness of genetic testing to improve prescribing medications for depression.

Limdi previously demonstrated the effectiveness of genetic testing for antiplatelet medication for heart stent patients.

medicine to the right patient, researchers believe they can help patients get relief and save time, money, and even lives.

Open Hearts

Doctors have known for more than a decade that clopidogrel, or Plavix®—a drug that helps prevent blood clots and lowers a person’s risk of heart attacks and strokes—is less effective in some patients. Once it is in the body, clopidogrel (Plavix) is converted into its active form by an enzyme called CYP2C19.

However, some people’s genes make CYP2C19 less effective at converting the drug. Stuck in an inactive form in these patients, Plavix can’t do its job to prevent blood clots.

More than 1 million heart disease patients in the U.S. undergo stenting to open a clogged blood vessel. Over the past two years, Limdi and her UAB colleagues collaborated with researchers around the country to determine the impact of conducting genetic testing on patients when they get a stent placed and using that genetic information to decide whether or not to prescribe Plavix.

UAB Medicine | Summer 2017

FEATURE

“By testing for that one gene, you can now determine the people who can and cannot convert this drug into its active form,” Limdi says.

In a collaborative analysis including 1,815 patients undergoing stenting, 30 percent of patients had gene variants that made CYP2C19 less effective at converting Plavix into its active form. The researchers found the rates of death, heart attack, and stroke decreased by nearly half when this patient group was prescribed alternative medications. Limdi notes tailoring therapy can not only benefit patients, but it can also save valuable resources throughout the health care system.

“When I think about pharmacogenomics, I’m thinking of both individual patients and the broader population,” she says. “With Plavix, we can now shift the needle at the population level.”

Limdi has also studied genetic variants that affect how people respond to the blood thinner warfarin, or Coumadin.

She has found the results vary by race, highlighting the importance of including minority populations in pharmacogenomics trials—something that is a particular strength of UAB’s program. “Not only does our diverse population advance the science, but it also impacts the patients we treat,” says Limdi.

Direct Solutions

According to many researchers, depression is a disease that would benefit greatly from a pharmacogenomics approach. It is notoriously difficult to treat, with many patients trying a long list of common antidepressants before finding one that works.

“Most people with depression will eventually respond to some kind of antidepressant treatment, but any given antidepressant has only about a one in three chance of working,” says Richard Shelton, M.D., the Charles Byron Ireland Chair of Psychiatric Research and a professor in the UAB Department of Psychiatry and Behavioral Neurobiology.

“In people with depression, oftentimes we don’t get a second chance. People may give up on medication after trying one that doesn’t work. In the worst-case scenarios, the person may commit suicide.”

But a growing body of research suggests that genes involved in drug metabolism, or linked to depression itself, can guide health professionals to choose antidepressants that work on the first try for their patients. Nearly a decade ago, Shelton was on the team of researchers who discovered some of these key gene mutations.

Now, Shelton, Limdi, and others at UAB are working to bring that knowledge to the clinic. They are studying the impact of two different commercially available genetic tests: the GeneSight Psychotropic test and the GenoMind Genecept Assay. Each determines whether a patient has any known mutations that can influence antidepressant effectiveness.

For now, Shelton’s group is using genetic tests after patients’ depression has failed to improve after one or two standard medications. The results help inform which drug to try next. But when the large studies on the GeneSight and GenoMind tests—in which Shelton and his team of researchers

are participating—are published, more doctors may start using the tests and more patients may be targeted, he says.

“A lot of clinicians are taking a wait-and-see approach,” says Shelton. “In the future, we’re going to take data from multiple levels to guide treatment. We get the most predictive power by combining a patient’s genetic information with their other clinical characteristics.”

Changing the System

Convincing health care providers to adopt pharmacogenomics testing across a broader range of health care systems, diseases, and types of treatments, however, will be challenging. “Implementing new technologies is always hard,” says Limdi. “It requires people to change their behaviors.”

More than 130 FDA-approved drugs already include pharmacogenomics information in their labeling—statements informing clinicians that genetic information can help prevent complications and determine who will benefit from taking a drug. But most people who are prescribed those 130 drugs aren’t offered genetic tests.

Even in the case of CYP2C1—where Limdi’s study found genetic testing led to a 50 percent decrease in deaths, heart attacks, and strokes—Limdi says many cardiologists don’t think the evidence is strong enough to make the decision to offer all patients the testing.

“There need to be pragmatic clinical trials where we pull data from a lot of sites,” she says. “And pharmacogenomics is starting to do this well. We’re asking researchers to step outside their normal paradigm of publishing first and instead collaborate to build bigger datasets and conduct more robust analyses of clinically relevant outcomes.”

At the School of Medicine, the lessons Limdi and her colleagues learned from implementing the CYP2C19 tests in stent patients will help them apply pharmacogenomics more broadly. It was intentional, Limdi says, to start with stent patients under the care of UAB cardiologists. “In that scenario, there’s one physical location—the cath labs—where all patients are stented,” she says. “We could really focus in and understand the pressures and challenges of implementing something like this.”

Her team found that giving a test that can be conducted quickly and ordered through the existing electronic health record system without interrupting a doctor’s normal workflow was the key. “Implementing pharmacogenomics tests for something like depression, though, will be much more difficult because of the number of patients and all the different locations they can be seen,” says Limdi.

Limdi imagines a future where, as a matter of routine medical practice, all patients undergo a large panel of pharmacogenomics tests and that information is stored in their health records for future use. “Years from now we might have this information on everybody,” says Limdi. “For now, let’s figure out who is the most likely to benefit from this; let’s build the interventions; let’s collect the evidence.”

— 15 —

Researchers sequence a complete genome (for the bacteriophage Phi X 174) for the first time.

1941

1902

Early geneticist Walter Sutton determines that chromosomes are associated with heredity, and that the halving of chromosomes during meiosis (a type of cell division) is directly related to Mendel’s laws of inheritance.

Geneticists Edward Tatum and George Beadle publish their work revealing that genes code for proteins, explaining for the first time how genes direct metabolism in cells.

1977

Augustinian friar Gregor Mendel, considered to be the founder of modern genetics, publishes Experiments in Plant Hybridization.

1865

Danish botanist Wilhelm Johannsen coins the word “gene” to describe the Mendelian unit of heredity.

1909

1953

Using X-ray crystallography, Rosalind Franklin makes pioneering discoveries about the shape of DNA, laying the groundwork for James Watson and Francis Crick to describe the double helix structure of DNA for the first time.

PRECISION MEDICINE

MILESTONES

For centuries, doctors have considered a patient’s height, weight, age, and other individual factors when determining the proper therapy. Precision medicine now adds genetic testing to the mix, opening the door to truly personalized treatment. Researchers have identified dozens of genes that affect how a person responds to a variety of drug therapies and contribute to diseases ranging from aortic aneurysm to breast cancer to high cholesterol.

What’s more, our understanding of how genes interact with each other and a person’s lifestyle and environment grows with each passing year, and our ability to correct mutations in patients’ genes is closer to reality than ever before. Here we highlight some key milestones in the evolution of precision medicine.

2003

The first comprehensive genetic map of human chromosomes is based on 400 restriction fragment length polymorphisms (RFLPs), which are variations in DNA sequence that can be observed by digesting DNA with restriction enzymes.

Researchers successfully complete the Human Genome Project, under budget and two years ahead of schedule.

1987

The Human Genome Project officially launches.

2013

1990

The UAB Molecular Tumor Board and Undiagnosed Diseases Program are established.

FAST FACTS: THE HUMAN GENOME

2014

UAB School of Medicine launches the Hugh Kaul Personalized Medicine Institute, the UAB Informatics Institute, and the UAB-HudsonAlpha Center for Genomic Medicine.

2015

President Barack Obama announces the launch of a $215 million Precision Medicine Initiative.

2017

Alabama Genomic Health Initiative launches.

COST CURVE

• A genome is an organism’s complete set of genetic instructions, which are made up of DNA.

The first human genome sequencing took

• The human genome is made up of

Today, the cost to sequence a whole genome is around

3.2 billion bases of DNA. • Chromosomes are bundles of tightly coiled DNA located within the nucleus of almost every cell in our body.

• Humans have 23

pairs of chromosomes.

• There are an estimated

human genes.

20,000-25,000

$2.7 billion and almost 15 years to complete. $1,000 and it takes around 26 hours.

FEATURE

DISEASE DETECTIVES A team of UAB experts works to solve medical mysteries

BY BOB SHEPARD AND JANE LONGSHORE

t would be extremely unlikely that this sort of condition would be recognized in a setting outside a program such as ours,” says Bruce Korf, M.D., Ph.D., the Wayne H. and Sara Crews Finley Chair in Medical Genetics in the Department of Genetics and director of UAB’s Undiagnosed Diseases Program (UDP). He is referring to the case of a child born with profound developmental issues. The child is blind and deaf, suffers from multiple seizures, and has never smiled or sat up.

The results of whole genome sequencing revealed that the child has two gene mutations, one associated with seizures and developmental abnormalities and the other with impaired cognitive development. The genetic variants were categorized as de novo, or new mutations, meaning they occurred spontaneously. While there is no known cure for the child’s condition, the good news for the parents is the risk that such mutations would occur again if they have another child is very small. In addition, the risk to the family’s other children of one day having a child with these mutations and their associated conditions is no greater than in the general population.

Since it launched in 2013, the Undiagnosed Diseases Program has become a welcomed resource for patients suffering from medical mysteries that have defied diagnosis. “Undiagnosed diseases present a critical unmet need, with patients often cycling through the medical system for years with no satisfactory treatment plan,” says Korf.

Uncharted Territory UAB’s Undiagnosed Diseases team includes (clockwise from left) Bruce Korf, Martin Rodriguez, Ashley Haynes, Ashley Cannon, Kaitlin Callaway, Anna Hurst, Maria Descartes, and Tammi Skelton.

The National Institutes of Health’s Office of Rare Diseases Research says there are about 500 diseases common enough to be in any physician’s repertoire for diagnosis, while another 6,500 are known but extremely rare. For patients and their families trudging through the medical system with no answers and no plan, the UDP can be a ray of hope.

Primary team members are Korf; Maria Descartes, M.D., professor in the Department of Genetics; Martin Rodriguez, M.D., professor of medicine in the Division of Infectious Diseases; and Anna C. E. Hurst, M.D., assistant professor in the Department of Genetics. The team also includes certified genetic counselor Ashley Cannon, M.S., Ph.D., C.G.C.; genetic counseling assistant Ashley Haynes; and nurse practitioners Tammi Skelton, N.P.-C and Kaitlin Callaway, N.P.-C. The UDP can also draw on a range of UAB specialists according to patients’ needs.

— 18 —

UAB Medicine | Summer 2017

FEATURE

Since 2013, the program has seen more than 130 patients.

Of the patients whose evaluations have been completed, more than half have received a diagnosis. Diagnoses are made through a combination of cutting-edge technology allied with more traditional medical strategies such as comprehensive review of records and history and extensive interviews with the patient and/or family. In many cases, the UDP partners with Huntsville’s HudsonAlpha Institute for Biotechnology to employ whole genome sequencing, which can identify genetic variants across any of the approximately 22,000 genes in the human genome.

It’s not just undiagnosed disease; it’s untreated disease. We’re not here just to put names on things; we’re trying to improve the quality of life for the people who are affected.”

— BRUCE KORF, M.D., PH.D.

“Now that we’ve had experience with genome sequencing, what we’re finding is several different kinds of outcomes,” says Korf. “Sometimes nothing is revealed that we believe is relevant to a person’s health problems. Then occasionally you make a diagnosis where you ask yourself, ‘Why didn’t I think of that before?’ It’s not an unknown, never-before-discovered diagnosis; it’s just a rare, unusual condition but well within the realm of what you theoretically could diagnose. But for whatever reason it doesn’t come to attention, usually because it’s presenting in a different way than you expect. Then sometimes you find things that you know in a million years you wouldn’t have thought of if it not for genome sequencing.

You can pretty much guarantee it would have continued to go undiagnosed without the sequencing.”

This last scenario was the case with a patient whose condition, an inherited disorder classified as a lysosomal storage disease, had been described in the medical literature only once before. In another case, genome sequencing identified a genetic variant that was responsible both for a severe neuromuscular condition that impaired the ability of multiple members of a family to walk, as well as skeletal abnormalities. The gene was known to be responsible for either of these conditions, but it is usually not found to cause both in the same person. This discovery allowed the UDP to recognize additional problems for which family members were at risk and refer them to appropriate specialists for care.

Occasionally, the UDP team will find themselves exploring completely unmapped genetic territory. “We had an example recently of something that has never been described before,” Korf says. “Not only has the gene mutation not been seen before, but also the gene itself has never been shown to be involved in disease. But it’s looking like it may in this case. How do you prove that? That’s what we’re trying to do now, setting

up research collaborations with colleagues across campus to try to figure it out.”

High-Tech Meets Time-Tested

Korf is quick to note that genome sequencing is only one tool the program employs, and in some cases it is not even the most critical element of their process. “Part of the success of the program is predicated not just on using sequencing technology; listening to the patient, thinking, and communicating with colleagues about a clinical problem have tremendous power also,” says Korf. “With the pressures of modern medicine, all too often that doesn’t happen.

Sometimes you find that the diagnosis is there to be made if you listen really carefully.”

Examples of these non-genetic diagnoses include several patients who turned out to have previously unrecognized cancer that the UDP diagnosed in the process of their medical workups. “There are also a few patients who have what you might think of as routine diagnoses—lupus or other autoimmune diseases—that for whatever reason didn’t get diagnosed previously, usually because they were unusual presentations of what are otherwise well-described diseases,” Korf says.

As the program has expanded, so too has its mission.

Korf sees therapeutics development as a natural extension of the UDP’s purpose. “It’s great when you can tell somebody after all this time, ‘This is what you have.’ Of course, the real triumph would be if you can do something about it and use that knowledge to develop a new treatment. That’s where I see us going: translating gene discoveries into searching for medications. It’s not just undiagnosed disease; it’s untreated disease. We’re not here just to put names on things; we’re trying to improve the quality of life for the people who are affected.”

VITAL STATS: UNDIAGNOSED DISEASES PROGRAM Number of referrals received

326

Number of patients evaluated

131

Patient evaluations completed

77

Patient diagnoses made

45

Probands sequenced

41

Probands diagnosed from sequencing 12 Proband: an individual affected with a disorder who is the initial member of a family to come under genetic study

— 19 —

FEATURE

STATE OF HEALTH UAB is leading a unique effort to leverage the power of genomic analysis in routine clinical practice

BY RYAN BROUSSARD

magine editing a book with about 6 billion characters subdivided into words, paragraphs, and chapters, and poring over each letter and space to ensure every character is in its proper place and there are no periods where a comma should sit. That book would be nearly 625 times longer than the current Guinness World Record holder for longest book, A la recherche du temps perdu by French author Marcel Proust, which comes in at a shade over 9.6 million characters across 13 volumes.

That is what it takes to sequence and analyze a person’s entire genomic sequence, which is why Bruce Korf, M.D., Ph.D., the chair of the UAB Department of Genetics and the Wayne H. and Sara Crews Finley Chair of Medical Genetics, uses the analogy when describing the genomic analysis and interpretation that will become available, free of charge, to a group of Alabama residents thanks to the Alabama Genomic Health Initiative (AGHI).

Future Medicine

“Since the Human Genome Project was completed in 2003, we’ve learned a tremendous amount about the roles of genes in disease,” says Korf. “This project will result in immediate health benefits to some participants. In the long term, it will help address chronic disease and rising health care costs in the state. It will also position Alabama at the forefront of 21st century medicine.”

A collaboration between the UAB School of

— 20 —

Above: Selwyn Vickers, dean of the School of Medicine, speaks to members of the media at a press conference in March announcing the Alabama Genomic Health Initiative.

Medicine and Huntsville-based HudsonAlpha Institute for Biotechnology, and initially funded by a $2 million appropriation from the Alabama Legislature to UAB, the AGHI will recruit a diverse group of participants from every county in Alabama to receive genomic sequencing. In the first year, the initiative plans to recruit 2,000 people who will provide a DNA sample from a simple blood draw. Over a five-year period, the goal is to increase participation to at least 10,000 people.

“Our goal is to develop a representative cross sample of Alabama residents, broadly characteristic of ethnic, racial, and socioeconomic groups throughout the state,” says Matthew Might, Ph.D., director of the UAB Hugh Kaul Personalized Medicine Institute and co-director, along with Korf, of the AGHI. The ethical, legal, and social issues surrounding such a project are complex, which is why the AGHI includes a bioethics working group to ensure the highest ethical standards. Bioethicists—one from HudsonAlpha, one from Tuskegee University, and one from UAB—are reviewing all plans and procedures to ensure that appropriate safeguards and protections are in place and to guide the initiative on matters such as privacy, security, and informed consent.

UAB Medicine | Summer 2017

FEATURE

Since the Human Genome Project was completed in 2003, we’ve learned a tremendous amount about the roles of genes in disease. This project will result in immediate health benefits to some participants.”

— BRUCE KORF, M.D., PH.D. The AGHI is also creating a DNA biobank for research that will impact health and medicine in Alabama and around the world. “This database will be an unparalleled tool for understanding the health risks across different demographics in the state,” says Might. “Researchers working on finding cures for diseases will have the resources to identify genetic factors that predispose individuals to rare or common disorders, with the hope of developing new approaches to prevention, diagnosis, and treatment.”

Unlocking Secrets

The AGHI will initially recruit participants at UAB in Birmingham and later at UAB clinical operations in Huntsville, Montgomery, and Selma. The initiative will eventually expand to other sites in Alabama. Korf says he anticipates the majority of participates will be either healthy or undergoing treatment for one or more conditions not recognized to have a genetic cause. This group’s blood samples will undergo a genotyping array test, which assesses 650,000 identified genomic biomarkers for variants in 59 “actionable genes.”

The American College of Medical Genetics and Genomics (ACMG) has identified a set of 59 genes as contributing to disease where there is an established intervention to improve outcomes. “Perhaps the best-known genes on the list are BRCA1 and BRCA2, which are associated with a genetic risk of breast and ovarian cancers,” Korf says. “We will begin with this ACMG list, but we may add to it over time.”

Participants testing positive for one of the 59 actionable genes will receive genetic counseling to interpret the results.

Their primary medical providers will also be informed with the permission of the participant. The doctors will then refer their patients to seek appropriate prevention strategies or proper treatment. “The number of individuals likely to get a positive report will be small, maybe 1 to 3 percent, but the results will be life-changing and possibly lifesaving,” Korf says. “There is also a multiplying effect. If one person discovers they are at genetic risk for a disease, then they can relay that information to others in their family. It allows family members to take appropriate action as well.”

A smaller group of AGHI participants will have a recognized genetic issue of undetermined origin. These patients will likely have undergone a “diagnostic odyssey,” moving from specialist to specialist in an unsuccessful quest to identify their mysterious malady. For each person in this group, experts will

analyze all 22,000 genes and 6 billion base pairs of DNA, a process called whole genome sequencing which will be conducted at HudsonAlpha, to try to uncover a gene variant that offers a clue to the disease.

These results will be shared with the patient and his or her primary medical provider. Participants will also be linked to appropriate medical care, which could include UAB’s Undiagnosed Diseases Program.

“We hope to provide an answer to about 25 to 33 percent of these patients,” says Korf. “We want to tell them, if we can, what the cause of their condition is and, even more important, how we can help them manage or treat it.”

A New Era for Health

The AGHI lays a strong foundation for greater access to precision medicine for Alabamians through its research and clinical components, according to Selwyn M. Vickers, M.D., senior vice president for medicine and dean of the School of Medicine. “It will allow the groundwork to be laid for hopefully everybody in this state to benefit from precision medicine as it evolves and as our knowledge grows,” he says.

Korf agrees this initiative makes precision medicine more accessible to Alabamians. He also notes another benefit to genomic testing: savings in time and money. “A single investment in sequencing can sometimes save many times the cost in unproductive consults and tests.”

— 21 —

The Actionable

59

The American College of Medical Genetics and Genomics has identified 59 actionable genes that are known to contribute to disease. They include: DISEASE GENE(S) Aortic Aneurysm, Familial Thoracic 4

MYH11

Brugada Syndrome

SCN5A

Fabry’s Disease

GLA

Juvenile Polyposis Syndrome BMPR1A Lynch Syndrome

MLH1,

MSH2, MSH6, PMS2 Malignant Hyperthermia RYR1, CACNA1S Marfan’s Syndrome FBN1 Multiple Endocrine Neoplasia Type 1

MEN1

Neurofibromatosis Type 2

NF2

Retinoblastoma RB1

FEATURE

Carolina Salvador spearheaded the effort to open the new UAB Integrative Medicine Clinic.

A PHILOSOPHY OF CARE

for Integrative Medicine, which was founded in 1994 by the renowned integrative physician Andrew Weil, M.D. Salvador began incorporating some of the center’s methods in her own oncology practice this past year.

UAB’s new Integrative Medicine Clinic addresses patients’ needs in body, mind, and spirit

Holistic Healing

BY TARA HULEN

B

reast cancer specialist Carolina Salvador, M.D., who joined the Division of Hematology and Oncology in 2011, loves her work but has long felt frustrated that the current health care system does not afford physicians with the time or training they need to address patients’ life concerns during and after treatment.

“Experiencing through my patients what a cancer diagnosis brings—how it changes your body, your mind, everything in your life—and treating the cancer without attending to the rest of the things that are happening to the person feels a bit like cheating to me,” she says.

Salvador’s dedication to treating the whole patient’s needs led her to pursue training in integrative medicine, and helped convince UAB to create an Integrative Medicine Clinic, which opened in January in The Kirklin Clinic with Salvador as director. She trained for two years at the Arizona Center

Since patients remain under the care of their primary oncologists or primary care physicians, Salvador stresses that integrative medicine does not replace conventional medical treatment. Rather, it is a holistic method of caring for and treating patients across a broad range of needs. For example, the Integrative Medicine Clinic’s doctors may refer patients for nutritional, exercise, sleep, energy therapy, and/or dietary supplement counseling depending on their needs. The clinic’s doctors can recommend patients see psychologists, exercise physiology experts, and acupuncturists when appropriate.

They also encourage certain patients to participate in activities like yoga, tai chi, and qigong. The clinic has a team psychologist, Phyllis Mark, Psy.D., who has decades of experience working with patients with chronic illnesses such as multiple sclerosis. She also has expertise in bereavement, depression, and trauma-related issues.

The Integrative Medicine Clinic enlists the help of the UAB Arts in Medicine (AIM) program to offer patients visual art classes, dance and movement activities, storytelling, drawing, and a “Joy of Singing” program. The clinic also counts on UAB’s Pastoral Care team to provide patients with emotional support and compassionate listening, companionship, and

— 22 —

UAB Medicine | Summer 2017

CLINICAL CARE

spiritual counseling that cater to any faith or spiritual view.

“I think the most important thing to stress is these are modalities that have been proven scientifically to work,” Salvador says, adding that integrative medicine is not the same as alternative medicine. “Alternative medicine is usually something that has no scientific basis. We are doing scientifically based therapy modalities that are not common in Westernized medicine. We care for the whole person and not just the disease. We try to bring forth all the inner strengths and the inner abilities of the patients to heal themselves.”

1 3

We are doing scientifically based therapy modalities that are not common in Westernized medicine.

We care for the whole person and not just the disease. We try to bring forth all the inner strength and the inner abilities of the patients to heal themselves.”

5

— CAROLINA SALVADOR, M.D.

These types of clinics are becoming increasingly common at large medical centers, particularly top cancer centers, Salvador says. Oncology patients are the current focus of the UAB clinic, but the goal is to open it to people with a variety of chronic illnesses. “People are learning there are other ways we can improve quality of life that don’t involve just popping a pill,” she says. Salvador and her colleagues are also working on building an integrative medicine research trial at the clinic.

Patient-Driven Benefits

outlets to help the Integrative Medicine Clinic’s patients feel like themselves again after so COMMON INTEGRATIVE much of their lives revolve MEDICINE APPROACHES around fighting a disease.

AIM Director Kimberly Kirklin says professional Natural Products* artists-in-residence work with patients in ways that are proven Deep Breathing to be beneficial but don’t necessarily have measured outcomes.

Special Diets Patients who are non-ambulatory or are weak from chemotherapy Guided Imagery can also enjoy these activities.

“It’s all about being Massage Therapy in the moment with the patient and basing it on the needs of the Homeopathy individual,” Kirklin says.

Yoga, Tai Chi, or “We sometimes call it the ‘ministry of presence.’

Qi Gong We’re there to provide a safe space for creating art or just having creative Meditation interaction with no * Dietary supplements other than vitamins and judgment. It’s about minerals. ** Source: NIH National Center for Complementary and Integrative Health, 2012 patient experience; it’s about empathy.”

Physicians may view some of integrative medicine’s effects as foreign in the clinical sense, but anyone can understand the benefits of its methods from a nonclinical perspective. “When you dance, you have a certain nonverbal awareness and joyfulness,” says Mark.

“Dancing or drawing or listening to music also improves your stress response and your immune response.” It reminds patients of the beauty of the world, she says: “When someone is being torn apart by cancer, it’s about reconciling that person’s sense of self.”

Salvador says she hopes these methods will soon become a regular part of the medical school experience. “Integrative medicine is currently taught in several academic centers in the United States, in the form of fellowships and residencies, and is slowly getting into medical schools. I think every doctor in training needs to know there is more than just allopathic medicine and understand when to incorporate integrative medicine.

“Plus, integrative medicine benefits practitioners in a number of ways,” Salvador continues. “They learn about nutrition, ways to deal with stress, how to use supplements and herbal medicine, how to use exercise to combat fatigue, and how to deal with spiritual concerns. Everybody can benefit from integrative medicine—physicians and patients alike.”

Patients today are often aware of the health and mental benefits of practices like yoga, meditation, and art and music therapies. Many physicians want a place to refer patients that can offer guidance in a clinical setting with a physician’s oversight. “This is information patients will go looking for on their own if they don’t get it from their doctors,” Salvador says.

For example, Salvador provides guidance on supplements, educating patients about those that shouldn’t be taken while they undergo chemotherapy and informing them about more benign ones that should be used judiciously.

A physician referral is preferred for the full program. When the clinic was first announced, there was a misconception it was a “boutique” or concierge clinic that would be expensive for patients. It is quite the opposite, Salvador says.

Insurance covers visits and counseling with Salvador as well as psychological counseling, and other lifestyle counseling is free to patients. Classes such as specialized yoga and weekly guided meditation have a $5 or $10 fee.

UAB’s AIM program, which is active throughout the hospital, uses painting, music, storytelling, and other creative

— 23 —

7

2 4 6 8

MEDICAL TRAINING

BODY OF KNOWLEDGE Anatomy training gets a reboot

BY NANCY MANN JACKSON

M

edical students have traditionally taken an in-depth anatomy course during their first semester of medical school. The experience of dissecting a cadaver and memorizing long lists of anatomic structures has been a rite of passage into the field of medicine for generations.

But in recent years, as medicine—and medical education— has become more team-based and interdisciplinary, medical schools across the country are bringing anatomy training out of its silo and integrating it with other areas of study. At the same time, new technologies offer innovative ways to teach anatomy and encourage teamwork among students. With grant funding to update lab space and a new approach to the curriculum, UAB’s anatomy program is making some big changes.

New Learning Model

The traditional semester of in-depth anatomy training has always given medical students a strong foundation. However, it was often hard to retain that knowledge throughout the remaining years of medical school. “The limitation of teaching anatomy as a standalone course, in which students dissect a cadaver from beginning to end, was that most students never revisited the anatomy lab again,” says Craig Hoesley, M.D., senior associate dean for medical education and chair of the

Department of Medical Education.

For example, Hoesley says he took anatomy during the first half of his first year of medical school. Although he had an excellent professor and learned the material, he says he didn’t remember much of his earlier anatomy training by the time he started surgery rotations in his third year. To avoid that, UAB now teaches anatomy in sections to correspond with other learning modules. “When students study respiratory health, they dissect the chest cavity. When they study reproductive health, they dissect the pelvic area,” Hoesley says.

UAB’s new anatomy training format is in step with many medical schools across the country. “Curricular time dedicated to anatomy instruction has gradually declined over the past 30 years at the national level,” says William Brooks, Ph.D., associate professor in the Department of Cell, Developmental and Integrative Biology and director of the Gross Anatomy Lab and Surgical Anatomy Lab. “At the same time, many medical schools including UAB have integrated anatomy with other disciplines into organ system-based curricula. With these changes, anatomy as a discipline has merged with physiology, histology, and pathology.”

While students still memorize lists of anatomic structures, their instruction now focuses more heavily on how anatomy fits into a systematic approach to the diagnosis and treatment of disease, Brooks says.

Next-Generation Tools

As health care has become more high-tech, so too has a typical anatomy lab. Last year, Brooks submitted a grant to the UAB Health Services Foundation and received $80,000 to equip the anatomy lab with eight large-screen TVs and instructor iPads, which allow faculty to use a variety of digital resources during anatomy labs.

“This makes it more of a teaching lab and not just a dissection space,” Hoesley says. Brooks notes that the instructor can now project live cadaveric dissections for the entire class to see, which enables him or her to point out interesting pathologies or anatomical variations.

The grant money is also funding a set of plastinated anatomical specimens, which will teach students how to dissect anatomic regions that are often more difficult. (Plastination is a technique to preserve bodies or body parts in William Brooks which the water and fat are replaced by plastics,

— 24 —

UAB Medicine | Summer 2017

MEDICAL TRAINING

resulting in specimens that retain properties of the original sample but do not decay.)

Medical students are not the only ones who use UAB’s Anatomy Lab; the School of Dentistry and other health professions programs also use the space. And team-based learning has become the new normal in anatomy instruction.

“This allows students to put anatomy into clinical practice and work together to solve problems, thereby developing their teamwork skills,” says Brooks.

For instance, students work through clinical scenarios during a team-based lesson. They decide when to order certain tests and radiographs and how to interpret radiographs, make diagnoses, and choose surgical approaches. “They literally get to apply anatomy to clinical practice,” Brooks says. “Through this, students develop a deeper knowledge of anatomy and see why it is relevant for their work as a physician.”

Broadening the Scope

Critics of the new approach to anatomy training say medical schools aren’t doing as much dissection as they used to, Hoesley says. “However, about 90 percent of the human body is dissected during the first two years of medical school,” he notes. “And in the last two years, students can come back and do additional dissections that fit into their medical focus.”

Each year at UAB, first-year medical students learn about and dissect the chest and abdomen during the Fundamentals of Medicine, Cardiovascular, Pulmonary, Gastrointestinal, and Renal modules, Brooks says. Second-year students learn about and dissect the head, neck, pelvis, and limbs during the

Neurosciences, Musculoskeletal and Skin, and Reproduction modules.

“Anatomy of each organ system is taught through lectures, team-based learning activities, and cadaveric dissections during each organ system module,” Brooks says. “In conjunction with anatomy, radiology and hands-on ultrasound are taught during the preclinical years. All students take part in learning to perform ultrasound of the heart, gall bladder, FAST (focused assessment with sonography for trauma) exam, knee, and wrist.”

Options for studying anatomy continue to expand. The lab has partnered with the Department of Genetics to give students a unique experience that will integrate anatomy with medical genetics. Next year, the lab plans to perform whole genome sequencing of cadavers, allowing students to analyze the genetic data of their cadaver and correlate genetic disease risk factors with the anatomical variations they may encounter during dissection, Brooks says.

Although the fundamentals of anatomy haven’t changed, health care approaches are continually evolving, and medical education must keep pace in order to properly prepare students for their future careers. Moreover, as the way students are accustomed to learning changes, the methods of teaching anatomy must keep pace. “Changes to the way anatomy is taught keep anatomy current and in line with modern practice of medicine,” Brooks says. “These changes also conform to the learning styles of the millennial generation, who prefer and perform better with hands-on, experiential, team-based learning.”

ANATOMICAL

DONATION

The Anatomical Donor Program receives approximately 120 anatomical donations each year. These donations are used to teach anatomy to trainees from health professions programs across UAB’s campus. Trainees who benefit from these donations in a typical academic year include:

SCHOOL TYPE NUMBER School of Medicine School of Medicine School of Medicine School of Medicine School of Dentistry School of Dentistry School of Optometry School of Health Professions School of Health Professions School of Health Professions School of Nursing

Preclinical Students Clinical Students Graduate Students Residents First Years Fourth Years Optometry Physical Therapy Occupational Therapy Physician Assistant Nurse Anesthesia

370 80 45 50 60 60 50 50 50 90 40

— 25 —

MATCH

GAME

The Class of 2017 celebrates Match Day and looks ahead to residency training Match Day, the day graduating medical students learn where they will conduct their residencies, is the culmination of a student’s medical school journey and the first step into specialty training. It is a day filled with joy, relief, excitement, laughter, friends, and family. Here are a few facts and figures about the 2017 Match Day results.

98% of UAB medical students matched with residency positions

* All figures as of March 20, 2017

43% matched into a primary care field

Students matched at 75 institutions in 29 states across the country

55 students will remain in Alabama for the first year of residency

Top Residency Match Results 28 internal medicine 24 pediatrics 18 general surgery 17 emergency medicine 17 family medicine

12 obstetrics and gynecology 6 anesthesiology 6 orthopaedic surgery 5 each diagnostic radiology, psychiatry, and ophthalmology

UAB has 88 residency and fellowship programs across 4 campuses 220 new incoming residents matched to UAB programs in the main Match We spent the past four years studying for long hours and taking tests. It all comes down to this moment, and it means so much.

MATCH DAY FACTS •

Match Day occurs on the third Friday of March. In 2017, Match Day hit a record high with 35,969 U.S. and international medical school students and graduates vying for 31,757 residency positions.

•

The National Resident Matching Program (NRMP) is a private, nonprofit organization established in 1952 at the request of medical students to provide an orderly and fair mechanism for matching the preferences of applicants for U.S. residency positions with the preferences of residency program directors.

•

NRMP Matches use a computerized mathematical algorithm to align the preferences of applicants with the preferences of program directors in order to fill training positions available at U.S. teaching hospitals. Research on the NRMP algorithm was a basis for awarding the 2012 Nobel Prize in Economic Sciences.

•

On the Monday prior to Match Day, candidates find out from the NRMP if (but not where) they matched. They must wait until Match Day to learn where they matched.

– Xavier Baldwin, M.D., University of North Carolina General Surgery match

EMERGENCY MEDICINE

PEDIATRICS

10

24

INTERNAL MEDICINE

(Birmingham campus)

38

FAMILY MEDICINE

(Huntsville campus)

12

ANESTHESIOLOGY

21

NEW RESIDENTS ENTERING

UAB’S 5 LARGEST RESIDENCY PROGRAMS JULY 2017

MEDICAL TRAINING

ADMISSIONS EVOLUTION New leader brings fresh outlook to medical school admissions

BY GAIL ALLYN SHORT

M

CAT scores, grade point averages, and research experiences are among the criteria medical school admissions committees traditionally consider when deciding which applicants to admit.

Today, medical schools are also turning to data collection and analysis to help identify students who are likely to become, for example, leaders in clinical research or primary care. They then use that data to adapt their admissions policies and curricula.

These are the kinds of issues Christina Grabowski, Ph.D., the School of Medicine’s new associate dean for admissions and enrollment management, thinks about every day. “The ability to take the admissions process to the next level at a medical school with a national reputation and the opportunity to work with all the talented people here at UAB is exciting to me,” she says.

Grabowski started her career in undergraduate admissions at Oakland University in Michigan, where she was assistant director of admissions and enrollment management. She later served as the director of graduate marketing and recruitment there. In 2009, Grabowski became assistant dean of admissions at Oakland University William Beaumont (OUWB) School of Medicine, a position that prepared her for her role at UAB. Grabowski gained a national reputation for her expertise in holistic review admissions while at OUWB School of Medicine. She was involved with the Association of American Medical Colleges (AAMC) Advancing Holistic Review Initiative and facilitated

numerous holistic review workshops for the AAMC. Holistic review is a method in which admissions committees consider an applicant’s resiliency, listening skills, personal life experiences, and a host of other attributes in addition to more traditional measures like MCAT scores and grade point averages.

“Sometimes people think there is only one set of admissions criteria and everyone has to meet a cookie-cutter profile,” says Grabowski. “That’s not what holistic review is. It’s the individual consideration of an applicant and how they can contribute to the learning environment as well as the workforce.

We want a diverse student body and workforce, because having one type of doctor doesn’t meet all health care needs.”

We want a diverse student body and workforce, because having one type of doctor doesn’t meet all health care needs.”

— CHRISTINA GRABOWSKI, PH.D Grabowski says the latest trend in medical school admissions involves gathering data that measures existing students’ performances through graduation and beyond. That data might include information on how well medical students perform on structured clinical examinations, patient satisfaction scores graduates earn on the job, and even which graduates become chief residents or department chairs. That information enables medical schools to make informed, evidence-based decisions about their admissions criteria, curriculum, and other factors in order to produce the type of graduates they want, Grabowski says.

Craig Hoesley, M.D., the School of Medicine’s senior associate dean for medical education, says Grabowski’s knowledge and expertise, paired with the school’s desire to be an innovator in medical school admissions and

— 28 —

UAB Medicine | Summer 2017

Christina Grabowski

enrollment management, makes her ideal for the job. “She will help UAB to become a leader in this area,” he says.

Hoesley says the School of Medicine expanded the scope of the role from assistant dean of admissions to associate dean for admissions and enrollment management. In this role, Grabowski will develop new strategies to collect data and analyze applicants and matriculated students to meet specific goals like increasing diversity.

“I am also charged with creating a more transparent, friendly environment for applicants,” Grabowski explains.

“We’ll use social media to keep students abreast of where we are in the process.

We’ll use interpersonal communications, too. That might involve being more available for calls, more responsive to emails, more proactive in sending out messages, and really opening up more lines of communication with prospective students.”

To start, Grabowski is meeting with alumni, faculty, and students, and holding open forums with admissions committee members to assess strengths in the admissions process and discuss areas for improvement. “I’m delighted to have the opportunity to work with members of our community to grow our admissions program and make it more user-friendly and transparent for everyone involved,” she says.

STUDENT SPOTLIGHT

LEARNING BY GIVING BACK Medical students among newest class of Schweitzer Fellows

BY JANE LONGSHORE

I

n 2015, as part of an effort to expand service learning opportunities for medical students, the School of Medicine partnered with the Albert Schweitzer Fellowship (ASF) to open the 13th U.S.-based chapter of the prestigious service program. The fellowship is open to applicants from an array of health-focused graduate programs, including medicine, nursing, dentistry, and public health. The ASF named the second class of Alabama fellows in April, and it includes four UAB medical students.

The ASF was founded in the U.S. in 1940 to provide aid to the hospital that Nobel Peace Prize laureate and medical missionary Albert Schweitzer founded in Gabon, Africa. In 1979, the fellowship started sending medical students to work at the hospital. Today, it is dedicated to improving the health of vulnerable populations both at home and abroad.

Schweitzer Fellows spend a year developing and implementing service projects that address the causes of health disparities in under-resourced communities. Each project is implemented in collaboration with a community-based health and/or social service organization. UAB medical students chosen for the 2017/2018 fellowship program include: Caroline Fuller, a rising MS2, is addressing childhood nutrition and exercise in the East Lake community by establishing a nutrition curriculum during P.E.E.R. Inc’s summer camp at East Lake United Methodist Church. This program is intended to help children from second grade to high school learn how to exercise safely and eat healthy

Left to right: Koushik Kasanagottu, Caroline Fuller, Ashleigh Burns Irwin, and Carson Klein.

even with limited access to food and equipment. The curriculum, titled “Student Bodyworks: A Mobile Kitchen to Integrate Nutrition Science (and Math) Into Elementary School Classrooms,” will give these students the tools to take care of their bodies and minds.

Ashleigh Burns Irwin, a rising MS2, is working to improve health literacy in children through the creation and implementation of a healthy lifestyle curriculum for the YMCA of Greater Birmingham Youth Center’s after-school program. This curriculum, targeted to students from kindergarten through second grade, addresses themes like nutrition and physical activity. It also confronts diseases and behaviors prevalent in the community, including diabetes, hypertension, smoking, and alcohol use. The goal is to increase students’ knowledge about the many factors that contribute to health and increase the likelihood they will make good choices regarding their own health and lifestyles.

Koushik Kasanagottu, a rising MS4, is focusing on the lack of access to quality nutrition information for disadvantaged groups by developing a lifestyle checklist that contains evidence-based guidelines to prevent or manage chronic diseases. The checklist will contain simple but effective methods

— 29 —

to adopt a healthier lifestyle, and participants will be asked to select two to three goals they wish to accomplish. The program aims to motivate individuals to make permanent lifestyle changes that are healthy and habitual. His community partner site is University Medical Center in Tuscaloosa.

Carson Klein, a rising MS2, is addressing the effects of social isolation on the elderly in Birmingham. She is developing a volunteer program that pairs medical students with socially isolated vulnerable elders currently enrolled in the UAB House Calls Program. The program aims to reduce the impact of social isolation on the mental and physical health of these vulnerable seniors through various activities and games. It also provides a rich service learning opportunity for the student volunteers.

“This is a talented and hardworking group of students who are passionate about improving health care and access to care,” says Kristin Boggs, director of the Alabama chapter of the ASF. “They’ve partnered with an impressive range of community-based groups that are working to help vulnerable people live healthier lives, and it will be very exciting to see how their projects progress over the next year.”

INVESTING IN INNOVATION

At left, from left to right: Etty “Tika” Benveniste and Khurram Bashir are co-directors of the UAB Multiple Sclerosis Center. Above: Multiple sclerosis research at UAB has received a significant boost thanks to a $1.3 million anonymous gift.

A GIFT THAT CHANGED EVERYTHING Anonymous gift propels multiple sclerosis research and care

BY EMILY HENAGAN

W

hile most people focus on establishing careers and starting families in their 20s and 30s, this is also the age range when about 80 percent of people with multiple sclerosis (MS) are diagnosed with the disease. MS affects the central nervous system and causes the brain to send the wrong signals throughout the body—setting off a chain reaction in which, among other symptoms, your balance becomes unsteady, your vision blurs, and your muscles spasm.

Thousands of people in the Southeast have received this diagnosis, but there is a refuge for them to seek care: the UAB Multiple Sclerosis Center (MSC). The center serves as a hub for all MS-related activities and is a comprehensive resource for patients, UAB physicians and scientists, and community physicians. The MSC’s goal is to advance research and clinical care for neuroimmunological disorders, which includes training the next generation of MS physicians and scientists as well as providing access to the unsurpassed care available to patients through UAB’s world-class health system.

Since receiving a $1.3 million transformative gift from an anonymous donor, the UAB Multiple Sclerosis Center is now accelerating research and advancing discoveries with the ultimate goal of finding the underlying cause of and a cure for this debilitating disease.

“We are truly grateful for this incredible gift that has transformed our MS research efforts at UAB. These dollars will certainly help us be competitive for big grants for MS,” says Etty “Tika” Benveniste, Ph.D., the UAB Multiple Sclerosis Center co-director, Charlene A. Jones Endowed Chair in Neuroimmunology, and senior associate dean of research administration in the School of Medicine. “The obvious goal is curing MS. In order to reach this, we need to understand what causes MS so we can effectively treat and modify disease development. This gift makes identifying new therapies for MS care and treatment here at UAB possible.”

The UAB Multiple Sclerosis Center is on its way to accomplishing Dr. Benveniste’s goal. The gift recently funded three pilot grants that examine what causes the body’s T-cells and myeloid cells to become hyperactivated when confronted with multiple sclerosis. According to Dr. Benveniste, this provokes a potent inflammatory response and causes severe damage to the body’s central nervous system.

“We aim to understand the underlying mechanisms that provoke this hyperactivation and are looking for ways we can suppress this response,” she says.

The obvious goal is curing MS. In order to reach this, we need to understand what causes MS so we can effectively treat and modify disease development.”

— 30 —

UAB Medicine | Summer 2017

— ETTY “TIKA” BENVENISTE, PH.D.

INVESTING IN INNOVATION

“These projects are supporting our researchers’ innovative ideas that could potentially lead to new avenues for MS treatment,” adds Khurram Bashir, M.D., MPH, the UAB Multiple Sclerosis Center’s co-director.

As the largest MS Center in Alabama at one of the preeminent academic medical centers in the country, the UAB Multiple Sclerosis Center promotes the discovery of novel treatments for MS through basic, translational, and clinical research.

“With this gift, we can move some of our research into the clinics so patients will have the opportunity to participate in cutting-edge research, which no other center would be doing,” says Bashir.

Bashir and Benveniste agree they want the UAB Multiple Sclerosis Center to be the premier center not only in the Southeast, but also one of the foremost ones in the U.S. The gift helped them recently establish an external scientific advisory board, which consists of renowned leaders in the field of MS who provide constructive feedback about the center.

“The UAB Multiple Sclerosis Center is poised to become a leader in MS clinical and translational research,” says board member Benjamin M. Segal, M.D., the University of Michigan Multiple Sclerosis Center director and the Holtom-Garrett Professor of Neurology. “The clinical operation benefits from an excellent team of MS specialty physicians, a large patient base, an established clinical trial infrastructure, and a reputation as the ‘go-to’ MS clinic in the state of Alabama and surrounding areas.

As a consequence of these unique resources, UAB is well-positioned to conduct comprehensive statewide epidemiological studies and to readily recruit even rare subsets of MS patients for clinical studies and trials.”

Those subsets of MS patients include African-Americans. Although African-Americans have a lower incidence of MS, their MS tends to be much more severe. Bashir estimates that about a quarter to a third of UAB’s MS patients are African-American.

“We want to see if the drugs being used in the majority of MS patients benefit African-American MS patients,

because we know many diseases have different presentations in various ethnic groups,” says Benveniste. “It’s a health disparities issue, and we can do clinical trials with this African-American patient population to help bridge the gap.”

Moreover, the UAB Multiple Sclerosis Center’s research and clinical endeavors extend to pediatric MS. Although Benveniste notes MS is a relatively rare disease in children, she says the incidence is rising.

“The drugs everyone is using for these kids are the same ones that are mainly tested in adults,” says Benveniste.

“We want to develop best strategies for helping care for our pediatric MS patients, and I think we can make some contributions to better understand the underpinnings of MS in pediatric patients.”

The gift also supports a program manager for the center, Michelle Belue, M.A., who focuses on coordinating and advancing the center’s activities. Bashir and Benveniste agree she has been incredibly valuable to the center.

“Hiring Michelle to oversee the administration of the center allows

us to focus on providing all aspects of MS care, starting from diagnosis to diagnostic studies to treatment to management of symptoms,” says Bashir.

“We can offer all of these services in one place.”

“It is exciting to know we have a research acceleration fund that promotes new science and moves us faster toward a cure for MS,” adds board member Rob Burton, president and CEO of Hoar Holdings LLC. “The new MS Center, with an excellent manager and committed leaders, will improve collaboration across many disciplines to improve patient care and advance research projects. I hope others will join in supporting this cause.”

For more information, visit www.uab. edu/medicine/multiplesclerosis.

Give Something, Change Everything To learn more about giving to support the UAB Multiple Sclerosis Center, contact Kate Tully at (205) 934-0792 or ktully@uab.edu.

UAB NAMED NATIONAL CENTER FOR COMPREHENSIVE MS CARE The UAB Multiple Sclerosis Center (MSC) has been designated a Center for Comprehensive MS Care by the National Multiple Sclerosis Society (NMSS), which recognizes the UAB MSC’s multidisciplinary approach to MS care. As the highest designation the NMSS provides, it also acknowledges the UAB MSC’s commitment to offer patients with MS a full array of coordinated medical, psychosocial, and rehabilitation services.

“We are so pleased to add this national designation to our achievements as we provide tangible solutions for people living with MS today,” says UAB Multiple Sclerosis Center Co-Director Khurram Bashir, M.D., MPH. “We uniquely offer quality and comprehensive care to address the complex and varied needs of patients with MS from childhood through adulthood. We’re also engaging in new and promising efforts toward identifying treatments to impact and ultimately stop this disease.”

Comprehensive care at the UAB MSC involves specialists in neuro-ophthalmology, neuro-urology, urogynecology and pelvic reconstructive surgery, neurosurgery, physical medicine and rehabilitation, psychiatry, psychology, and pain management collaborating to provide the best possible care to MS patients.

The UAB MSC joins only six other centers within a 200-mile radius of Birmingham to achieve this designation, and it is part of an elite group of 120 centers nationwide that have this recognition.

— 31 —

INVESTING IN INNOVATION

PARENTS’ NIGHTMARE TURNS INTO INSPIRED GIFT

W

hen Birmingham natives Lloyd and Sherry Wilson experienced every parent’s worst nightmare—their child undergoing a serious, life-threatening medical emergency—they had no idea they would find their family’s saving grace right here at home.

“We wouldn’t have been aware of the depth of UAB’s Department of Neurosurgery had it not been for personal events,” says Lloyd Wilson, president of asset management company Lloyd R. Wilson & Associates. “Drs. Mark Hadley and Jim Markert provided life-saving care to our daughter Jennifer during an incredibly difficult situation. We are forever indebted to them and to the talents of the whole department, and we wanted to give back.”

In gratitude, they made a gift to support the future of neurosurgery: the department’s residents. The New York Life Insurance Company Foundation has generously agreed to match the Wilsons’ gift. Trained in scientific inquiry, neurosurgery residents are expected to conduct research and publish their findings in peer-reviewed journals. From the first year through the last day of training, they are schooled in evidence-based practice and clinical outcomes research. This training philosophy produces highly skilled and intellectually curious neurosurgeons prepared to practice in any setting— academia, industry, or community practice.

Falling under the Neurosurgery Resident Education Fund, the Clinical Research Scholars program supports all residents and helps underwrite clinical research projects. These funds also back residents’ travel to scientific conferences and other related activities that contribute to their well-rounded training.

“We are unbelievably blessed to have such incredible talent and resources in Birmingham. That’s why we decided to fund a Clinical Research Scholar in the Department of Neurosurgery,” says Wilson. “We wanted to help keep this talent here for years and years to come.” Research suggests that the Wilsons are on to something: According to several national studies, about 80 percent of doctors settle within 50 miles of where they complete their residencies.

Markert, the James Garber Galbraith Endowed Chair of Neurosurgery, agrees the Wilsons’ gift will help keep talent here in Birmingham. “These gifts are critical to the Department of Neurosurgery to continue to attract and retain the outstanding faculty and residents we are fortunate to have,” says Markert. “In addition to providing superb clinical care, faculty members’ and residents’ career goals include researching novel and improved patient care approaches for the future. Without generous contributions such as these, we would be unable to provide the resources to allow these talented individuals to achieve their goals.”

The Wilsons also made their gift to help future families find their saving grace, and they’re hopeful others will follow suit. “The greatest philanthropy involves giving back to something you feel passionate about.

It’s about creating a platform that anticipates the needs

Above, left: Lloyd and Sherry Wilson with their daughter Jennifer Wilson Aday. In gratitude for the care Jennifer received from the UAB Department of Neurosurgery, the Wilsons made a gift to fund resident research through the Clinical Research Scholars program. Above, right: Joan Rasberry purchased this colorful painting at the UAB Comprehensive Cancer Center’s ArtBlink Gala and donated it back to the center.

of other people, and we hope others feel this same call to action,” says Wilson.

To learn more about giving to the Department of Neurosurgery, contact Leon Ryan III at leonryan@uab.edu or 205-996-0127.

ART MOVES CANCER SURVIVOR TO GIVE BACK

T

here’s an adage that art speaks to you. For Joan Rasberry that couldn’t have been truer when she saw a painting of a bouquet of flowers at the UAB Comprehensive Cancer Center’s annual ArtBlink Gala in 2016.

The flowers were bathed in a rainbow of colors—lavender, peach, cotton white, forest green, bright yellow—to symbolize the different types of cancers millions of people face. Rasberry is one of those people.

Diagnosed with acute myeloid leukemia, Rasberry didn’t know where to turn for treatment. However, she was grateful when her doctor referred her to Harry Erba, M.D., Ph.D. “My first experience with UAB happened when I was getting treated by Dr. Erba, and he is fantastic,” says Rasberry. “He is everything you want in a physician, and I’m forever grateful to him and the other amazing people at UAB for giving me years of my life back.”

— 32 —

UAB Medicine | Summer 2017

INVESTING IN INNOVATION

To learn more about giving to the Alabama Leukemia Research Fund for Acute Myeloid Leukemia, contact Christian Smith at cnsmith@uab.edu or 205-934-1974.

ALUMNI CAMPAIGN HITS MAJOR MILESTONE

W

All stories by Emily Henagan

At left: School of Medicine leadership and donors to its Alumni Campaign gathered at the 2017 Medical Alumni Weekend to celebrate achieving a milestone of $30 million in gifts.

Rasberry wanted to show her gratitude by pledging a gift in honor of Erba. The pledge will support the Alabama Leukemia Research Fund for Acute Myeloid Leukemia, a research initiative led by Erba and Chris Klug, Ph.D., professor in the Department of Microbiology. Not only does this research hit close to home for Rasberry, but she also wants to help those who are suffering from or will suffer from cancer in their lives.

“I want my gift to help in research to possibly find cures for cancer,” she says. “So many people suffer from cancer. If I can support research to help these people, then I want to make that impact and give back.”

Erba, professor of medicine, director of the UAB Hematologic Malignancy Program, and associate director for clinical research at the UAB Comprehensive Cancer Center, says he thinks Rasberry is already making an extraordinary impact. “Philanthropy like hers allows us to do the work needed to advance the care of people with cancer,” says Erba. “Her gift will allow us to do preliminary research that we believe is very promising.”

Rasberry recently donated the painting that said so much to her to the Comprehensive Cancer Center. In life and in art, everything for Rasberry is coming full circle.

hat does it take to raise $30 million dollars in fewer years than it takes to complete medical school and residency training? An extraordinary group of School of Medicine alumni devoted to giving back helped accomplish this milestone for UAB. From funding medical student scholarships to advancing research through philanthropy, School of Medicine alumni have put their money where their hearts are by giving to the people and programs across UAB that mean the most to them. And they’re only getting started.

Michael Vaughn, M.D., a 1981 School of Medicine alumnus, gave one of the recent gifts that helped the School of Medicine reach the $30 million milestone. He made a gift to the Crittenden-Larson Endowed Medical Scholarship to help honor his late colleague Richard Crittenden, M.D. “Supporting the School of Medicine and this scholarship is meaningful to me, because it honors Richard’s hard work and dedication,” says Vaughn. “I’m happy to give this gift in his honor.”

David Chestnut, M.D., a 1978 alumnus, also gave to the school to memorialize loved ones. In 2007, he and his wife, Janet, established the Fred and Bessie Mae Chestnut Endowed Medical Scholarship in memory of his late parents.

“I wanted to honor their example,” says Chestnut, former chair of the UAB Department of Anesthesiology. “They were part of the Greatest Generation—humble backgrounds, a lot of hardship, and called to their work.” The Chestnuts have made additional gifts to the fund through The Campaign for UAB, and have also included it in their estate plan.

Gerhard Boehm, M.D., FACS, a 1971 alumnus, is still called to his work after more than 40 years. As a practicing general surgeon in Mobile who was shaped by his training here, he wanted to establish the Gerhard and Linda Boehm Endowed Medical Scholarship with his wife to ease the burden of the cost of medical school for today’s medical students.

“I hope it helps many students focus on what they want rather than have to worry about how they are going to pay back the loans they have to take out,” says Boehm. “I think that helping students relieve some of their debt will allow them to pursue the specialties they want to without worrying about entering into specialties solely for financial reasons.”

To learn more about the Alumni Campaign for the School of Medicine, visit www.uab.edu/medicine/alumnicampaign, or contact Jackie Wood at 205-996-0815 or jfwood@uab.edu.

— 33 —

ALUMNI PROFILE

CARING CONNECTIONS Katisha Vance turned personal loss into career motivation

BY CINDY RILEY

F

or Katisha Vance, M.D., August 1986 changed the course of her life, both personally and professionally.

She said goodbye to her maternal grandmother, Mattie Stinson, who died at age 64 from metastatic colorectal cancer.

That was also when the first seeds were planted for her future career in medicine.

“I was always close with my Grandma Mattie, who was a mother of 12 and worked her entire life,” says Vance, a physician at Baptist Princeton Medical Center’s Alabama Oncology. “Back then, treatment options were limited for patients with stage IV disease. Fortunately, today we have an ever-increasing number of therapies to help patients in the fight of their lives. I’m motivated to come to work every day to help someone else’s Mattie.”

Vance says she solidified her decision to become a physician during her senior year as an undergraduate at the University of Alabama. “I’d initially planned to get a Ph.D. in chemistry, run a lab, and teach,” says Vance, a 2000 graduate of the School of Medicine. “My ‘aha’ moment came in the lab one quiet Friday afternoon when nobody was around. I recognized pretty quickly that I should change my plans, and my Introduction to Medicine class my senior year reinforced that decision.”

Although she decided to become a physician in college, Vance says the decisions she makes as an oncologist are still guided by her grandmother’s legacy. “She taught me how valuable it is to really listen to every patient,” says Vance.

“I also learned the importance of working through difficult situations with my patients and colleagues, even when the solution is not readily apparent. You have to do the best you can each day.” Vance completed her residency in 2004 at Baptist Health System in Birmingham, and a hematology and oncology fellowship at UAB in 2007.

Growing up in Waugh, Alabama, a small town 15 miles east of Montgomery, Vance’s two favorite subjects in high school were English and chemistry. Her favorite experiences as a medical student at the School of Medicine came when studying.

“My fondest memories are of those late nights studying harder than you ever had in your life,” she reminisces. “Those nights were usually followed by some incredibly fun things like dinner and dancing with your buddies.”

As the current president of the Jefferson County Medical Society (JCMS) , Vance is committed to raising awareness of physician burnout. She says she strongly believes doctors need each other to survive, and she encourages physicians to ask for help when they need it. “It’s a blessing and a curse, but I think that medicine attracts people who are highly self-sufficient, sometimes to our detriment,” says Vance. “I

spoke with a colleague recently about how so many doctors are embarrassed to admit they are struggling professionally or personally. That insistence on self-sufficiency can be crippling. It keeps us from asking for help.”

Vance says she is also working to confront health disparities issues in her capacity as JCMS president. “We are Katisha Vance coordinating a cultural competency seminar, because it’s clear that health care disparities are largely caused by knowledge gaps about minority groups,” she says.

“That comes across in patient-physician interactions.”

Vance notes that visiting with her patients helps enhance her patient-physician interactions. “Some of my most rewarding days come from visiting with patients who have been with me since I started 10 years ago,” she says. “We talk about kids and grandkids, family vacations, and other normal things. That’s important, because so many people think of cancer as a death sentence. That’s not always the case in 2017.

People need to know that.”

To learn more about the Jefferson County Medical Society, visit jcmsalabama.org or contact Executive Director Martha Waters Wise at mwise@jcmsalabama.org or 205-933-8601.

WHAT’S YOUR STORY? Are you an alumnus with a story you would like to share with your fellow alumni? Email somdev@uab. edu with your name, graduation year(s), contact information, and a few details about yourself, and we may include your profile in an upcoming issue.

— 34 —

UAB Medicine | Summer 2017

ALUMNI PROFILE

CHANGING OF THE GUARD Timothy Hecker takes the reins as Medical Alumni Association President

BY CINDY RILEY

T

imothy Hecker, M.D., is accustomed to being the youngest at things. As the youngest of seven children, he was constantly trying to keep up with his older siblings, a determination that would serve him well in his academic pursuits. “It wasn’t always easy, but it spurred me to achieve more,” explains Hecker, a Mobile native and 2004 graduate of the School of Medicine. This year, Hecker, 40, became one of the youngest presidents of the University of Alabama Medical Alumni Association (MAA) in recent memory.

Initially an engineering major at Catholic University in Washington D.C., Hecker ultimately realized he needed a different career. “Deciding to become a doctor was a good mix for me in terms of the personal interaction, the intellectual stimulation, building relationships, and wanting to help others,” he says. “Plus, I’ve always had an interest in brain science.”

Hecker, who completed his neurology residency at UAB in 2008, currently practices at Mobile’s Coastal Neurological Institute, where he enjoys getting to know the patients he treats. “Many of the diseases and processes we try to take care of touch a lot of people, including movement disorder.

Parkinson’s disease is a big focus of mine, along with multiple sclerosis and seizures. In the hospital, I work a lot with strokes.”

Despite putting in long hours at the office, Hecker recognizes the importance of making time for family. He has two kids with his wife Devon Walsh, a news anchor at the Mobile and Pensacola CBS affiliate WKRG. “Trying to fit it all in can be tough,” admits Hecker. “You have to love what you do and somehow make it work. You learn to juggle. My wife and I work as a team very well, and my two kids understand that daddy sometimes has to be away from home to help sick people.”

Hecker credits his School of Medicine mentors with helping him realize his potential as a neurologist. “At UAB, I was exposed to Dr. Ray Watts, who, without a doubt, is one of my role models. He had the ability to take the intellectual part of medicine and make you feel comfortable. Anyone who knows him will tell you the same thing.”

Burt Nabors, M.D., and Khurram Bashir, M.D., were also major influences. “You look at the people you admire, and you try to take on some of their qualities. These men all have traits I’ve tried to emulate as best I can.”

Hecker reflects on his time at the School of Medicine with a great deal of pride.

“Going through each clinical rotation, you’re around some of the most unbelievable mentors and teachers, and some of the best students,” he says.

“Those were some of the most awe-filled moments of my life.

It was hard, but you realized what you were doing was becoming Timothy Hecker the physician you wanted to become.”

Hecker hopes his unique status as a relatively young MAA president will help him reach out not only to graduates of the School of Medicine but also to current students to offer advice or a helping hand.

“As doctors get later in their careers, they may have more time to take on something like this,” he says, acknowledging that he is assuming these responsibilities earlier. “But I think it’s important for younger doctors to realize the relationship we should have with the giants in medicine who’ve come before us. Our generation needs to realize that we need to stay connected to these people.”

JOIN THE MEDICAL ALUMNI ASSOCIATION The University of Alabama Medical Alumni Association welcomes graduates of: • Medical College of Alabama and University of Alabama School of Medicine • Mobile Medical College and Birmingham Medical College • Medical graduates, residents, fellows, and faculty of the UAB School of Medicine

2017 Membership Dues

• Active Membership: $100 • Current Residents and Fellows: $25 • Current Students: $15 • Silver Membership: $250 • Gold Membership: $500 • Platinum Membership: $1,000

Learn more at AlabamaMedicalAlumni.org.

— 35 —

ACROSS CAMPUS

ACROSS CAMPUS

Program at Texas Tech and served as health authority for the Potter-Randall Bi-City-County Health Department for the past six years.

CELEBRATING WOMEN IN SCIENCE In celebration of International Women’s Day and Women’s History Month, the UAB School of Medicine Office for Diversity and Inclusion sponsored a March 22 visit from Valerie Montgomery Rice, M.D., a renowned infertility specialist and the first female dean of the Morehouse School of Medicine.

Events, announcements, and achievements in the academic life of the School of Medicine WELCOMING NEW LEADERS

William Carroll

Boni Elewski

Georges Netto

Roger Smalligan

William Carroll, M.D., the George W. Barber Jr. Endowed Professor and a widely recognized leader in the field of head and neck oncology, was named chair of the Department of Otolaryngology. He previously served as the department’s interim chair.

Boni Elewski, M.D., an international leader in fungal and psoriasis research and dermatological clinical trials, was named the chair of the Department of Dermatology. She has been a professor of dermatology at UAB for the past 17 years and holds the James E. Elder M.D. Endowed Professorship for Graduate Education.

Clinician-scientist Georges J. Netto, M.D., has become chair of the Department of Pathology. Netto joined UAB from Johns Hopkins University School of Medicine, where he was director of Surgical Pathology Molecular Diagnostics and professor of pathology, urology, and oncology. He holds the Robert and Ruth Anderson Endowed Chair in Pathology.

Roger D. Smalligan, M.D., MPH, a longtime clinician-educator, has been named regional dean of the Huntsville Regional Medical Campus of the School of Medicine. Smalligan previously served as the regional chair and a professor in the Department of Internal Medicine at Texas Tech University Health Sciences Center in Amarillo, Texas. He was also an adjunct professor in the Master of Public Health

Addressing a full auditorium, Montgomery Rice spoke about the importance of women in STEM fields.

“It’s crucial that women have advocates in Left to right: Selwyn Vickers, Valerie medicine and Montgomery Rice, and Mona Fouad. science, and it’s crucial that those advocates are not only women,” she said. Raised by a single mother, Montgomery Rice earned her undergraduate degree in chemistry from Georgia Tech and her medical degree from Harvard Medical School.

Before becoming dean at Morehouse School of Medicine, she served as dean of the School of Medicine and senior vice president of health affairs at Meharry Medical College. While there, she founded and directed the Center for Women’s Health Research, one of the nation’s first research centers devoted to studying diseases that disproportionately impact women of color.

THE WRITER’S LIFE Stephen Russell, M.D., wrote his current novel, Control Group, 12 years ago. “I tell my kids all the time, ‘Be patient. You will understand one day why it’s important,’” says Russell, an associate professor of internal medicine and pediatrics in the School of Medicine. “Control Group has been the perfect example of patience paying off. By taking the extra time to get the book truly ready and make the characters and story a little more mature, the result is a book that is better than it would have been.”

Control Group was released in print, e-book, and—in a first for Russell—a self-read audiobook in March. It is the third novel to feature the character Dr. Cooper “Mackie” McKay, and is a prequel to his previous Mackie McKay releases, Blood Money and Command and Control. In Control Group, Russell takes

— 36 —

UAB Medicine | Summer 2017

ACROSS CAMPUS

Stephen Russell

Contributing writers: Kendra Carter, Paula Cothren, Laura Coulter, Tyler Greer, Brook Hubner, Katherine Shonesy

McKay back to the end of his medical training when he was starting a family and experiences a personal tragedy. McKay takes a sabbatical from his job and becomes entangled with a drug company where he realizes big problems are emerging that threaten the health of patients around the country. Learn more at www.authorstephenrussell.com.

PRIMARY FOCUS This year, in response to the growing shortage of primary care providers in Alabama, the UAB School of Medicine will begin taking applications for a new Primary Care Track, exclusive to our Tuscaloosa Regional Campus. The Primary Care Track is a four-year M.D. program that builds on the success of the Tuscaloosa Longitudinal Community Curriculum, which began as a pilot program at the Tuscaloosa campus in 2014. Primary Care Track students complete their first two years of medical school in Birmingham then spend their third and fourth years at the Tuscaloosa Campus. The new Primary Care Track offers: • A longitudinal integrated clerkship (LIC) curriculum as the centerpiece of students’ third-year clinical training • Low faculty-student ratios (often 1:1) and excellent clinical training at the Tuscaloosa clinical campus and in community settings • Preparation for careers in primary care fields and other community-based specialty fields like OB/GYN, general surgery, and psychiatry • Personal and professional development with a highly visible and accessible student support team

The LIC allows students to learn clinical medicine, population health, and the business of medicine in an environment reflective of where most medicine is practiced. During the LIC, students work alongside faculty to follow and care for a group of patients over approximately six months through various disciplines and in all settings, including outpatient clinics, inpatient units, nursing homes, and patients’ homes. This enables students to see how patients respond to treatment and how health and disease evolve over time and in the context of social influences. Learn more at uab.edu/medicine/primarycaretrack.

EXPANDING UNDERGRADUATE FRONTIERS Two new UAB undergraduate degree programs—genetics and genomic sciences and immunology—have begun enrolling students for the fall 2017 semester. As shared majors between the College of Arts and Sciences and School of Medicine, the two new programs will allow students the opportunity to experience collaboration in the classroom and lab as early as freshman year.

The genetics and genomic sciences program will operate as a collaborative effort between the Department of Genetics in the School of Medicine and the Department of Biology in the College of Arts and Sciences. The immunology program—an interdisciplinary effort between the School of Medicine’s Department of Microbiology and the College of Arts and Sciences’ Department of Biology—is the only one of its kind in the Southeast and one of a handful nationwide.

STUDENTS BECOME MENTORS In February, high school and college students from across Alabama gathered on campus for the 13th annual Integrative Health Care Summit to learn about UAB’s numerous health professions programs.

Sponsored by the UAB chapter of the Student National Medical Association (SNMA), the event

— 37 —

Officers in the UAB School of Medicine chapter of the Student National Medical Association.

ACROSS CAMPUS

exposes students from underrepresented populations to a broad spectrum of careers in health-related fields, including optometry, pharmacy, physical therapy, dentistry, medicine, nursing, and public health.

“We talked to the students about more than just their career choices,” says Jarvis Johnson, SNMA vice president. “From the beginning, you have to develop good habits. Students need to work on time management and organization, and be aware of their social media presence.”

The SNMA works with the local community to help high school and college students change their perceptions of their own limitations, and also seeks to provide a mechanism for addressing issues of equity and inclusion within the medical school student body.

MOBILE MEDICINE Since January 2017, the UAB School of Medicine Huntsville Regional Medical Campus, Huntsville Hospital, and the local medical community came together and committed resources to positively impact the health of underserved neighborhood in the Huntsville community utilizing the Huntsville Hospital Mobile Medical Unit (HHMMU). The HHMMU sees patients one Sunday each month at Lincoln Village. This community in northeast Huntsville is an underserved area, and some of Huntsville’s homeless also access care here. Lakshmi Nallamala, M.D., executive director of the Lincoln Village Ministry and board member for the UAB Valley Foundation, came up with the idea of having UAB Huntsville and Huntsville Hospital collaborate to provide free access to general health care for adults living in and around Lincoln Village.

In the first three months, they have seen 24 patients at Lincoln Village. A free hepatitis C screening helped diagnose a patient with the disease. HHMMU workers treated the patient, who was able to return to work. One patient was diagnosed with multiple sclerosis, and several patients received imaging studies. Huntsville Hospital provides all the Mobile Medical Unit’s supplies and covers the cost for procedures the Lincoln Village patients require.

EDUCATION LEADER

Along with Huntsville Campus medical volunteers, community physicians help staff the HHMMU as it cares for underserved people in Lincoln Village and across the city of Huntsville and Madison County.

Irene Schwaninger

Irene Schwaninger has become the education coordinator for the Internal Medicine Residency Program at the UAB Montgomery Regional Medical Campus. She is responsible for overseeing all graduate medical education activities of the residency program, including monitoring for compliance with accreditation standards, recruiting new residents for the program, and communicating with corresponding departments at the Birmingham School of Medicine campus.

Schwaninger has extensive experience in education and management, most recently serving as the designated institutional official (administrator over all residency programs) at the Odessa Regional Campus of Texas Tech University Health Sciences Center.

Schwaninger received her bachelor’s degree in social psychology from Park University in Missouri in 2005 and her Master of Business Administration in Healthcare Management from the University of Texas-Tyler in 2015. She served six years in the U.S. Air Force and seven years in the Texas Air National Guard. She was deployed to Iraq, where she worked with the local population on humanitarian missions.

Medical students and residents from the Huntsville Family Medicine and Internal Medicine Residency Programs volunteer with the Huntsville Hospital Mobile Medical Unit.

Learn more about these and other UAB School of Medicine campus stories at www.uab.edu/medicine/news.

— 38 —

UAB Medicine | Summer 2017

AWARDS & ACCOLADES Donald Buchsbaum, Ph.D., professor in the Department of Radiation Oncology, has been named a fellow of the National Academy of Inventors. He is one of 175 leaders of academic invention chosen for the 2016 class of fellows.

Daniel Bullard, Ph.D., professor in the UAB Department of Genetics, has been named assistant dean for undergraduate biomedical programs, a new position created in the School of Medicine to oversee established joint undergraduate degree programs and develop new biomedical undergraduate majors.

Robert Centor, M.D., professor in the Division of General Internal Medicine in the Department of Medicine, has been named the recipient of the Robert J. Glaser Award from the Society for General Internal Medicine. The award recognizes outstanding contributions to research, education, leadership, and mentoring in medicine.

Marcia Chesebro, M.D., MPH, associate professor in the Department of Family Medicine, has been named chair of the Department of Family Medicine at the Huntsville Regional Medical Campus. She began the role March 1.

James J. Cimino, M.D., director of the UAB Informatics Institute and Endowed Professor in Informatics, has been elected to the International Academy of Health Sciences Informatics.

Victor Darley-Usmar, Ph.D., endowed professor of mitochondrial medicine and pathology in the Department of Pathology, has been named associate dean for research in the School of Medicine.

James Davies, M.D., associate professor in the Department of Surgery, has been named director of the Division of Cardiothoracic Surgery. Davies previously served as interim division director.

Terje Dokland, Ph.D., associate professor in the Department of Microbiology, has been named an American Society for Microbiology Distinguished Lecturer for 2017-2019.

Mark Dransfield, M.D., professor in the Division of Pulmonary, Allergy and Critical Care Medicine, has been elected to the American Society for Clinical Investigation, an honor society of physician-scientists who translate findings in the laboratory to the advancement of clinical practice.

Jack Hasson, M.D., clinical assistant professor in the Division of Pulmonary, Allergy and Critical Care Medicine, has received the American Thoracic Society (ATS) 2017 Outstanding Clinician Award.

The ATS is the world’s leading medical association dedicated to advancing clinical and scientific understanding of pulmonary diseases, critical illnesses, and sleep-related breathing disorders.

German Henostroza, M.D., associate professor of medicine in the Division of Infectious Diseases, has been named director of the UAB William Crawford Gorgas Center for Geographic Medicine following the retirement of David O. Freedman, M.D. Henostroza has served as the UAB director of the Gorgas Course in Clinical Tropical Medicine since 2015, a partnership between UAB and the Universidad Peruana Cayetano Heredia in Peru.

Helen Krontiras, M.D., professor in the Department of Surgery, has been named director of the Division of Surgical Oncology.

Krontiras joined UAB as an assistant professor 15 years ago.

Adrienne Lahti, M.D., Patrick H. Linton professor and director of the Division of Behavioral Neurobiology, and Nina Kraguljac, M.D., assistant professor, received the 2017 Kempf Fund Award for Research Development in Psychobiological Psychiatry from the American Psychiatric Association, which honors research excellence in the physiological, psychological, and/or sociological causes and treatment for schizophrenia. The award recognizes a senior researcher for significant contributions in both research and mentorship and an outstanding junior research psychiatrist working in a mentor-trainee relationship with the senior award recipient.

Jayme Locke, M.D., surgical director of the Incompatible Kidney Transplant Program at UAB Hospital, has been selected for the prestigious James IV Traveling fellowship, designed to promote communication and collaboration in the surgical community.

Travelers are both ambassadors representing their home countries and conduits to share knowledge with their peers.

Marisa Marques, M.D., professor in the UAB Department of Pathology, and Tina Simpson, M.D., associate professor in the Department of Pediatrics, received the American Medical Women’s Association 2017 Exceptional Mentor Award.

F. Stanford Massie Jr., M.D., professor in the Division of General Internal Medicine, was awarded the Alpha Omega Alpha Robert J. Glaser Distinguished Teacher Award from the Association of American Medical Colleges.

Sadis Matalon, Ph.D., Dr.Sc. (Hon.), Distinguished Professor and Alice McNeal Endowed Chair of Anesthesiology in the Department of Anesthesiology and Perioperative Medicine, was appointed editor-in-chief of Physiological Reviews, one of the most cited journals in the world with an impact factor of 31.

Sumanth Prabhu, M.D., Mary Gertrude Waters Chair of Cardiovascular Medicine and director of the Division of Cardiovascular Disease, was elected to the American Clinical and Climatological Association (ACCA).

John Porterfield, M.D., associate professor in the Department of Surgery, has been selected to join the board of directors of the Institute for Surgical Excellence. ISE is expanding its groundbreaking surgical training and education programs to equip surgeons of all disciplines with the skills needed to apply cutting-edge technologies.

Jerzy Szaflarski, M.D., Ph.D., director of the UAB Epilepsy Center and professor in the Department of Neurology, has been named a fellow of the American Epilepsy Society.

Selwyn M. Vickers, M.D., FACS, senior vice president for medicine and dean of the UAB School of Medicine, was elected to the Association of American Physicians. Vickers also was named president-elect of the Southern Surgical Association.

FROM THE ARCHIVES

A LEGACY OF INNOVATION Highlights from the history of the UAB Medical Genetics Program COMPILED BY TIM L. PENNYCUFF IMAGES COURTESY OF UAB ARCHIVES

Wayne H. Finley, Ph.D., M.D., advises a couple referred to the UAB Laboratory of Medical Genetics, circa 1970.

1962 The first Medical Genetics Program in the Southeast, and one of the first in the U.S., is established at UAB. Activities include cytogenetics studies and genetic counseling to referred patients.

1966 The Laboratory of Medical Genetics becomes a joint unit of the Schools of Medicine and Dentistry.

Wayne H. Finley, Ph.D., M.D., is named director and Sara Crews Finley, M.D., his wife, is named codirector.

1978 Alabama’s genetics services program becomes one of the first 19 state programs funded under the federal Genetics Disease Act. Dr. Wayne Finley is named principal investigator, officially giving UAB the responsibility for delivery of genetic services throughout the state.

1984 The UAB Medical Genetics training program is among the first to be accredited by the American Board of Medical Genetics.

Sara Crews Finley, M.D., (center foreground) and assistants at work in the genetics laboratory, circa 1970.

1986 The Wayne H. and Sara Crews Finley Chair in Medical Genetics is approved by the Board of Trustees, and Dr. Sara Finley becomes its first occupant.

James D. Watson, Ph.D., (right) co-discoverer of the double helix structure of DNA, accompanied by James A. Pittman Jr., M.D., (left) dean of the School of Medicine.

Watson made an unannounced visit to the Medical Genetics Laboratory during a graduate student conference in 1988.

Wayne Finley (right) and William Novick (left) with laboratory equipment, circa 1978.

— 40 —

UAB Medicine | Summer 2017

1996 Drs. Wayne and Sara Finley retire from full-time faculty. Andrew J. Carroll, Ph.D., is named interim director of the Laboratory of Medical Genetics.

1997 The Department of Human Genetics is established.

2001 The Hugh Kaul Human Genetics Building and the Finley-Compass Bank Conference Center are dedicated.

2002 The Heflin Center for Human Genetics (now the Heflin Center for Genomic Sciences) is founded.

2003 Bruce R. Korf, M.D., Ph.D., becomes chair of the Department of Genetics and holder of the Wayne H. and Sara Crews Finley Chair in Medical Genetics.

What do you call total gifts of $30 MILLION from 3,075 School of Medicine alumni to The Campaign for UAB?

A GREAT START. Learn more about how our generous alumni are changing everything at UAB. UAB.EDU/CAMPAIGN

the ALUMNI CAMPAIGN for the SCHOOL of MEDICINE

GIVE SOMETHING | CHANGE EVERYTHING

School of Medicine FOT 1230 • 510 20th Street South 1720 2ND AVE S BIRMINGHAM AL 35294-3412

ADDRESS SERVICE REQUESTED

Left to right: Matthew Might, Ph.D., and Bruce Korf, M.D., Ph.D., are helping lead UAB into its next phase of genomic and precision medicine.

Non-Profit Org. U.S. Postage PAID Permit No. 1256 Birmingham, AL