Summer 2014

Parental

Might

How the Might Family is Changing the Way We Study Rare Childhood Diseases

VOLUME 4 NUMBER 3 | SUMMER 2014

www.sanfordburnham.org | PORTAL

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FOUNDERS

Dr. William H. and Lillian Fishman HONORARY TRUSTEES

Roberta and Malin Burnham Joe Lewis Conrad T. Prebys T. Denny Sanford TRUSTEES AND OFFICERS

A Letter from the Senior Vice President of External Relations 1 Parental Might: How the Might Family is Changing the Way We Study Rare Childhood Diseases 2 The Muscle Disease Consortium at Lake Nona 5 Institute News: 2013 Pedal the Cause Grants Awarded 6 Institute News: Sanford-Burnham Announces Open-Innovation Collaboration with Daiichi Sankyo 7

CHAIRMAN

Q & A: Health Care Innovation with Florida Blue’s Patrick J. Geraghty 8

Kristiina Vuori, M.D., Ph.D.

Next Generation: Catherine Lee 10

Gregory T. Lucier

PRESIDENT AND INTERIM CEO PAULINE AND STANLEY FOSTER PRESIDENTIAL CHAIR PROFESSOR, NCI-DESIGNATED CANCER CENTER

Gary F. Raisl, M.B.A., Ed.D. EXECUTIVE VICE PRESIDENT CHIEF ADMINISTRATIVE OFFICER CHIEF FINANCIAL OFFICER TREASURER ACTING SECRETARY

Lorenzo M. Berho James C. Blair, Ph.D. David Down Daniel J. Epstein M. Wainwright Fishburn Jr. Pauline M. Foster Patrick J. Geraghty Bill Gerhart Alan A. Gleicher Jeanne L. Herberger, Ph.D. Brent Jacobs James E. Jardon II J. Bernard Machen, D.D.S., M.S., Ph.D. Henry L. Nordhoff Douglas Obenshain Peter Preuss Ze’ev Ronai, Ph.D. Rasesh Thakkar Andrew J. Viterbi, Ph.D. Allen R. Weiss Luder G. Whitlock Jr. Gayle E. Wilson EX-OFFICIO

Todd R. Golub, M.D. SCIENTIFIC ADVISORY BOARD CHAIRMAN

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Bring It! Playoffs Highlights 11 Events 13 Partners in Science: Pedal the Cause—San Diego Back Cover

SENIOR VICE PRESIDENT, EXTERNAL RELATIONS

Carol Cox

VICE PRESIDENT, EXTERNAL RELATIONS

Edgar M. Gillenwaters VICE PRESIDENTS, PHILANTHROPY

Parental

Might

How the Might Family is Changing the Way We Study Rare Childhood Diseases

Paul Baker Philip Graham, M.B.A.

VICE PRESIDENT, COMMUNICATIONS EDITOR

Deborah Robison

PRODUCTION MANAGER & CONTRIBUTOR

Rhiannon Bruni ART DIRECTION

James Short LEAD WRITER

Kate Callen

ON THE COVER

CONTRIBUTORS

The Might family of Salt Lake City, Utah, is helping to change the way our scientists study rare childhood diseases.

Karolyn Baker Patrick Bartosch Susan Gammon, Ph.D., M.B.A. Marissa Igartua

www.sanfordburnham.org

Toll-free: 1-877-454-5702

Sanford-Burnham Medical Research Institute

10901 North Torrey Pines Road, La Jolla, CA 92037 • 858-646-3100

Sanford-Burnham Medical Research Institute at Lake Nona 6400 Sanger Road, Orlando, FL 32827 • 407-745-2000

PORTAL | www.sanfordburnham.org

A Letter from the Senior Vice President of External Relations As this issue of Portal goes to press, SanfordBurnham is ramping up collaborations to speed our discoveries to patients, and I am finishing my first few months as the Institute’s senior vice president of External Relations.

Several paths led me to this position, which really is a dream job. A career in public affairs for the life-sciences industry taught me that basic research is the wellspring of biomedical innovation. I have long admired the Institute’s record of frontier discoveries and global impact. And I was honored to serve as an adviser for the January announcement of the 10-year strategic vision.

But the most compelling factor in my decision to join Sanford-Burnham was personal. In 1997, my mother was diagnosed with stage III ovarian cancer, and the outlook was grim. But hope came to us in the form of an experimental drug. Her doctors enrolled her in a clinical trial, and she made a complete recovery.

Timing and luck were on our side. Too often patients like my mother are lost in the gulf between basic research breakthroughs and clinical applications. The Institute’s 10-year strategic vision is a blueprint for closing that gulf. Our scientists are teaming up with patients and clinicians in unprecedented ways to translate discoveries into therapies.

These partners grasp the urgency of our mission to conduct medical research that has a tangible impact on human health, and they have become our allies in raising public awareness and support.

This issue of Portal features a story about Matthew and Cristina Might, whose son Bertrand has a rare childhood disease caused by a mutation in the NGLY1 gene. They’re collaborating with Sanford-Burnham scientist Hudson Freeze, Ph.D., to better understand

“Our scientists are teaming up with patients and clinicians in unprecedented ways to translate discoveries into therapies. ” the mutation and work toward finding new treatments. Matthew recently told us, “Instead of exploring the top 10 research leads in sequence, we should explore them in parallel.

That will take a lot more funding, but it can cut down the translational-research process from 20 years to two years.”

He’s right. We’re within reach of our quest, “From Research, The Power To Cure.”

Join us in accelerating our efforts to get there.

Carol Cox SENIOR VICE PRESIDENT EXTERNAL RELATIONS

www.sanfordburnham.org | PORTAL

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T H G I M L PARENTA

Diseases d o o h d il h C re a y We Study R a W e th g in g n a Family is Ch How the Might

The NGLY1 Gene and the Might Family When Hudson Freeze, Ph.D., first fielded calls from parents whose children had mystifying illnesses, he wondered if he was spending too much time on the phone and too little time in his laboratory.

Those doubts are long gone. Freeze, director of Sanford-Burnham’s Human Genetics Program, has become the nucleus of a global community of families who are advancing scientific efforts to find treatments for rare childhood diseases.

Drawing on personal tenacity, social networking prowess, and 24/7

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surveillance of disease symptoms and anomalies, these caregivers are Freeze’s collaborators in mapping the terrain of devastating genetic disorders.

They help marshal patient data.

They blog to spread the word about what they learn. They broker alliances with clinicians. They reach out to government agencies for increased support and expedited treatments. And they constantly remind Freeze that he is having a profound impact on their lives.

“A significant part of my week is spent communicating by phone and email with families who live with the disorders

“We found a kindred spirit in Hud. We saw at once that his life’s mission is not just to make scientific discoveries but to find cures. And he approached Bertrand as a whole person and not just a collection of symptoms.”

— Cristina Might

I study,” said Freeze. “It is one of the most valuable things I do to generate new knowledge of these diseases.”

Congenital Disorders of Glycosylation Freeze is a pioneer in research on congenital disorders of glycosylation (CDG) that arise from genetic mutations. More than 500 genes orchestrate the process of glycosylation, in which sugar chains help structure proteins necessary for basic metabolic functions. A single mutation in one gene can disrupt the process and trigger severe physical and mental disabilities.

Continued on Page 4

Alma (center) with Dr. Hudson Freeze (left) and her devoted mother, Farima Kashkooli, during a January 2014 visit to the the Sanford Children’s Health Research Center.

Mom Power: Alma’s Story Farima Kashkooli’s quest to conquer her little girl’s crippling disease led her from their home in Iran across two continents to Sanford-Burnham in La Jolla, Calif. “When we drove up to the Sanford Children’s Health Research Center,” she recalled, “and I saw the street sign that said Road to the Cure, I knew I was in the right place.”

Farima’s daughter Alma was born with an array of debilitating symptoms, including near-blindness and delayed development. When clinicians in Iran and Germany could not diagnose Alma’s illness, she and her mother flew to Minnesota to seek help from Mayo Clinic.

Spcialists there found that Alma had a congenital disorder of glycosylation (CDG), because one of her marker proteins, transferrin, did not have the right sugar coating. Unable to identify the genetic mechanism, they contacted Hudson Freeze, Ph.D., director of Sanford-Burnham’s Human Genetics Program.

Meanwhile, Joseph Gleeson, M.D., a pioneer in functional genomics of neurological disorders at UC San Diego, had stumbled onto a defective gene called SRD5A3 in other patients Continued on Page 13

www.sanfordburnham.org | PORTAL

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Parental Might Continued from Page 3 Because such mutations are rare, and the symptoms span many diseases, afflicted children typically go undiagnosed.

Their pediatricians are baffled, and their parents often feel lost and desperate.

Bertrand Might was a somber infant whose erratic movements hinted at neurological damage. A series of tests ruled out a wide spectrum of known disorders, and his condition worsened.

Matthew Might, Ph.D., and Cristina Might were determined to find the cause of their son’s illness. “It was up to us to figure out what was wrong with Bertrand, and we began a long diagnostic odyssey,” said Matthew, who teaches computer science at the University of Utah.

The Might family with Dr. Hudson Freeze during a visit to the Sanford Children’s Health Research Center in early 2013.

“We had to become the experts on our son’s disease,” explained Cristina.

Their research led them to a Duke University team that sequenced Bertrand’s exome, a part of the genome where mutations are especially destructive. The Duke team discovered a genetic aberration: each parent had a different mutation in the same NGLY1 gene, and Bertrand had inherited both.

Duke’s scientists didn’t know if this had occurred in any other child, but they knew who would. “They told us, ‘Go to Hudson Freeze, he’s a world leader in glycobiology,’ ” Matthew recalled. “My mother is a close friend of [Institute trustee] Jeanne Herberger, and Jeanne also recommended him. Hud was the first person to tell us that there were other patients out there with the same rare disorder.”

“We found a kindred spirit in Hud,” said Cristina. “We saw at once that his life’s mission is not just to make scientific

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discoveries, but to find cures. And he approached Bertrand as a whole person and not just a collection of symptoms.”

A New Model of Collaboration On March 20, the journal Genetics in Medicine published an unusual commentary about a CDG syndrome caused by NGLY1 mutations. Its title is “The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated.” Its co-authors are Matthew Might and Matt Wilsey, whose little girl has the same disease as Bertrand.

The two fathers, who now know eight other families with NGLY1-impaired children, called for “a new model for clinicians and researchers” in which “families, patients, and scientists work jointly to […] enhance collaboration methods and support research toward understanding and treatment.”

The Mights credit Freeze as the architect of the new model. “This has been revolutionary,” said Cristina, “and it wouldn’t have been possible without Hud.” The couple is also grateful to Freeze for the revelation that, using invitro fertilization technology, they could have more children without running the risk of another NGLY1 mutation.

Cristina, who is expecting her third child in June, said, “Thanks to Hud, we can have a family!”

Freeze is teaming up with NGLY1 families to accelerate the development of a new therapy from Edison Pharmaceuticals. The National Institutes of Health is participating in clinical trials, and the Food and Drug Administration is monitoring progress.

At Sanford-Burnham’s Sanford Children’s Health Research Center, Freeze’s laboratory, which he expanded with support from the Bertrand Might Research Fund established by the family, is searching for other novel CDG therapies. Across the hall, his office is filled with photographs of CDG children who have won his heart.

“Each of these children has been blessed with extraordinary parents,” he said, “and it has been my privilege to work with them.”

The Muscle Disease Consortium AT LAKE N ON A

Philip Wood, D.V.M., Ph.D., professor in Sanford-Burnham’s Metabolic Disease Program.

In a new kind of translational-research venture, basic scientists, clinicians, and patient advocates are uniting to develop personalized therapies for rare childhood muscle disorders using “disease in a dish” and stem cell technologies.

The Florida Muscle Disease Consortium, which met for the first time in December 2013 at Sanford-Burnham’s Lake Nona campus, is initially focusing on two types of muscle illnesses in children: muscular dystrophies and “orphan” diseases linked to inherited enzyme deficiencies in mitochondrial fatty-acid oxidation.

Participants at the meeting discussed ways to harness patient-centric research at Sanford-Burnham, the Florida Hospital— Sanford-Burnham Translational Research Institute for Metabolism and Diabetes (TRIMD), the University of Florida, and Nemours Children’s Hospital with induced pluripotent stem cell (iPSC) models developed at Sanford-Burnham’s La Jolla campus.

“We began by determining who’s doing what where,” said organizer Philip Wood, D.V.M, Ph.D., professor in SanfordBurnham’s Metabolic Disease Program, whose laboratory studies the role of abnormal fatty-acid metabolism in rare inherited diseases. “We’re involving people in specific parts of what we

collectively want to do,” explained Wood.

Wood’s chief Institute collaborator is Pier Lorenzo Puri, M.D. Puri has led an effort in the Development, Aging, and Regeneration Program to create a muscle “disease in a dish” model that reproduces essential structural and functional aspects of muscular dystrophies and other inherited disorders, scrutinizing them and identifying targets for therapeutic interventions.

One of the group’s goals is a shared biorepository for patient-derived cells.

“We’re working with Florida Hospital through the TRI-MD to get samples from patients and family members to create ‘muscle in a dish’ models for these patients,” said Wood. “We can’t stress cells in the patient, but we can stress them in the dish to see if there are muscle-disease characteristics and evaluate changes.”

Pier Lorenzo Puri, M.D., associate professor in the Development, Aging, and Regeneration Program.

Puri, whose work has led to the discovery of drugs currently in clinical trials for the treatment of dystrophic patients, said, “By recapitulating patient-specific features of disease, this model could move our discoveries more quickly into clinical settings. All the work we do in the Consortium will be seen through the perspective of how we are helping patients through better diagnoses, identification of biomarkers, and ultimately cures.” www.sanfordburnham.org | PORTAL

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INSTITUTE NEWS

2013 Pedal the Cause

Grants Awarded “This Pedal the Cause grant will enable us to translate the basic research and search for chemical inhibitors that can be developed into completely new drug treatments for cancer.”

Cancer research programs benefiting from funds raised through Pedal the Cause—San Diego were announced at a May 29 news conference. Two of five research grants from the proceeds of last year’s inaugural bike ride were awarded to SanfordBurnham scientists Michael Jackson, Ph.D., and Robert Wechsler-Reya, Ph.D. Hosted by Sanford-Burnham on the La Jolla campus, the announcement — Michael Jackson, vice president of showcased the work of leading scientists, Drug Discovery and Developement who were awarded Pedal the Cause support to collaborate with peers at other institutions in pursuing promising research pathways. Jackson and WechslerReya will both team up with clinical investigators at UC San Diego Moores Cancer Center.

Wechsler-Reya, director of the Institute’s Tumor Initiation and Maintenance Program, and his team will work with Jason Sicklick, M.D., at Moores Cancer Center to study gastrointestinal stromal tumors (GIST), identifying new methods (Pictured L to R) Sanford-Burnham’s grant recipients Michael Jackson, Ph.D., vice for predicting patient outcomes, and using president of Drug Discovery and Development, Robert Wechsler-Reya, Ph.D., director advanced screening technology to discover of the Tumor Initiation and Maintenance Program, together with Garth Powis, D.Phil., professor and director of the NCI-designated Cancer Center at Sanford-Burnham. new drugs that can specifically target drugresistant cells. According to Wechsler-Reya, “These studies have the potential to improve outcomes for GIST patients who do not respond, or have become resistant to current therapies.”

Jackson, Sanford-Burnham’s vice president of Drug Discovery and Development, oversees operations at the Conrad Prebys Center for Chemical Genomics. He is collaborating with Seth Field, M.D., Ph.D., at Moores Cancer Center to screen for drugs that inhibit a newly discovered pathway implicated in a high number of cancers. “This Pedal the Cause grant will enable us to translate the basic research and search for chemical inhibitors that can be developed into completely new drug treatments for cancer,” said Jackson.

Pedal the Cause was established in 2013 to benefit the Cancer Centers Council, or C3, a unique collaboration of San Diego’s three National Cancer Institute-designated cancer centers at SanfordBurnham, UC San Diego, and the Salk Institute. The event also increased public awareness of the critical need to support translational science. The riders, who raised money by soliciting pledges, included cancer researchers, life-science industry leaders, philanthropists, patient advocates, cancer survivors, and caregivers.

The 2014 Pedal the Cause—San Diego bike ride is set for Sept. 20-21. Participants will begin gearing up over the summer with training rides and special forums on cutting-edge cancer research approaches.

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INSTITUTE NEWS

Sanford-Burnham Announces

Open-Innovation Collaboration with Daiichi Sankyo

May was an exciting month for the Institute’s metabolic-disease specialists, as a new strategic partnership between the Japanese pharmaceutical company Daiichi Sankyo and Sanford-Burnham was announced. The three-year collaboration aims to speed new treatments to patients by developing firstin-class therapeutics for the treatment of cardiovascular-metabolic diseases, such as type 2 diabetes, obesity, and heart failure.

The goal of the partnership is to identify and validate disease targets. Once identified, collaborating teams will conduct drug screens to identify compounds that modulate the targets, using facilities at both Daiichi Sankyo and Sanford-Burnham.

The collaboration is built on an openinnovation model, in which scientists throughout the Institute will have the opportunity to participate. A committee comprised of Sanford-Burnham and Daiichi Sankyo scientists and business-development professionals will review the applications and decide which projects will be funded, making the model similar to a grant program.

“The partnership will focus on the broad area of cardiovascular-metabolic diseases, which is a key research area for us, as well as a critical unmet medical need worldwide,” said Dwight Towler, M.D., Ph.D., professor and director in the Cardiovascular Pathobiology Program. “This is another milestone for Sanford-Burnham as we connect our expertise in both basic research and drug discovery technology with pharmaceutical partners to implement a key element of our new 10-year strategic vision.”

The benefits of the partnership reach beyond Sanford-Burnham’s labs, providing Daiichi Sankyo with access to our basic researchers and to the Institute’s network of key opinion leaders. “This is a unique and innovative early-stage drug discovery collaboration,” said Dr. Masahiko Ohtsuki, corporate officer and global head of research at Daiichi Sankyo. “The cardiovascularmetabolic area is a key priority for Daiichi Sankyo and we have found a strong, strategic partner in Sanford-Burnham. I am excited about this collaboration and look forward to seeing the results of this partnership.”

This collaboration with Daiichi Sankyo is one example of how Sanford-Burnham is diversifying revenue streams. With NIH funding in decline, and more competition for existing grants, the Institute is expanding its strategic research partnerships and ramping up philanthropy efforts.

In addition to Daiichi Sankyo, SanfordBurnham collaborates with pharmaceutical companies across numerous disease areas. These partnerships are part of our goal to form strategic relationships with industry leaders to move our laboratory discoveries to patients more quickly. www.sanfordburnham.org | PORTAL

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Q&A:

Health Care Innovation

Florida Blue’s Patrick J. Geraghty As chairman of the Board and CEO of Florida Blue, Patrick J. Geraghty is a leader in the national movement to improve health and health care. As a trustee of Sanford-Burnham, he has a unique vantage point on the Institute’s research and its 10-year strategic vision, and he conveys the value of its mission to the public at large. In this interview, he talks about how translational research done at SanfordBurnham is driving integration and innovation throughout the health care arena.

What were your first impressions of Sanford-Burnham, and why did you agree to join the Board?

Sanford-Burnham has a reputation as a significant organization that conducts high-quality research and is trying to make a real difference in health care. That lines up very well with Florida Blue’s mission of helping people and communities achieve better health. So for me, this was a natural fit. Sanford-Burnham’s presence in Lake Nona has made it a key player in the region we are serving. My service on the Board has given me a clearer understanding of Sanford-Burnham’s unique approach to research. The dedication of all its scientists, and of Dan Kelly, scientific director at Lake Nona, is impressive.

How is the Institute’s presence changing and enhancing Central Florida’s medical environment?

Sanford-Burnham’s research is a reminder

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that we have to work on diabetes and obesity on two fronts. On the prevention side, lifestyle habits like diet and exercise are important factors in the equation, but even when you put good habits in place, people are still at risk, so there is a clear opportunity for research and development to bring other factors of the equation into play.

Sanford-Burnham is working on new therapeutics that can give us a more comprehensive way to answer the challenges of diabetes and obesity in our community.

We need to gather all the stakeholders from across the health care spectrum to engage in this dialogue because the future of health care delivery will require greater integration.

How will Sanford-Burnham’s 10-year strategic vision drive innovation in the life sciences?

Research and development take a while to move from early-stage basic studies to the point where you can deploy findings.

So laying out this 10-year vision will help

“Sanford-Burnham is working on new therapeutics that can give us a more comprehensive way to answer the challenges of diabetes and obesity in our community.”

— Patrick J. Geraghty, Chief Executive Officer and Chairman of the Board, Florida Blue

Do you have any predictions about how the Institute will deliver on its quest, “From Research, The Power To Cure,” over the next 10 years?

That phrase captures Sanford-Burnham’s culture very well. It isn’t just about academics. It’s about taking research outcomes, translating them into answers, and delivering them to the community.

And it’s about integration of knowledge from different areas, which is an Institute focus. We’re looking for solutions in health care delivery, like personalized medicine,

and Sanford-Burnham helps advance our thinking about that—it’s how we are making sure that we are getting the best possible information, and the best possible minds, to work on much-needed solutions.

Are there any words of encouragement you might offer to Sanford-Burnham researchers who are pursuing cures?

Everyone in every business needs to be connected to the people they serve. At Florida Blue, we always want to know how we can make our mission relevant to everyone we serve. The same is true of SanfordBurnham. Look at the work you’re doing as scientists in your laboratories, and think about how it will be translated to make a difference in the quality and the length of the lives of patients. I’m proud of my affiliation with the Institute, and I talk about that when I speak in the community, or speak to people in Tallahassee. As a trustee, I have a role to play in advancing the impact that SanfordBurnham has in our community. www.sanfordburnham.org | PORTAL

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Photo credit: Florida Blue

the Institute determine how it can become a partner of choice while having an impact at the translational level. Sanford-Burnham doesn’t sit back on its laurels or spend a lot of time looking back at where it has been. A very generous philanthropic gift has come its way, and the Institute is going to leverage that gift to make even more significant contributions to medical research, and translate those results into clinical practice.

NEXT GENERATION

Graduate Student Catherine Lee Shares her Plans for the Future

Photo credit: Catherine Lee

Catherine Lee, an exceptionally bright student in the Biomedical Sciences program at UC San Diego, has one objective firmly in her sights—putting an end to cancer.

Her inquisitive nature, collaborative approach to research, and desire to make a difference have already propelled her into the pages of one of the most prestigious science journals in the world and brought her a step closer to her ambitious goal—all before she has finished her Ph.D.

The above image shows a section of a medulloblastoma tumor that has been stained with an immunofluorescent antibody.

The blue color marks the nuclei and the green color marks the tumor cells.

Lee is completing a portion of her graduate studies in the lab of SanfordBurnham scientist Robert Wechsler-Reya, Ph.D., professor and director of the Tumor Initiation and Maintenance Program.

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This spring, she will publish for the first time in the journal Nature as a colead author—a remarkable achievement for anyone, let alone an individual so early in her academic career.

The paper, a result of a close collaboration between Sanford-Burnham and the German Cancer Research Center (DKFZ), reveals a new candidate driver gene in medulloblastoma, a rare and aggressive type of pediatric brain cancer.

Lee played a crucial role in the study by completing the functional work, which proved that the newly identified gene, labeled GFI1/GFI1B, was in fact contributing to brain tumors in mice.

“I want to take this study further and delve deeper into the mechanisms of GFI1/GFI1B,” Lee explains when asked about her plans for the future. “I want to know how it is contributing to these aggressive brain tumors, so that we can improve the outlook for people affected

PORTAL | www.sanfordburnham.org

by this disease.”

Lee, who is nearing the end of her studies, hopes to finish within the next two years. She’s been in the Wechsler-Reya lab since 2011 and has found the experience to be invaluable— not only in defining what area of cancer biology she wants to work in, but also in what type of environment she hopes to do it.

“I was very lucky to join Sanford-Burnham for my graduate studies because the environment gave me the freedom to figure out my focus. I’m not sure where I’ll head after I finish my Ph.D., but I do know I want to continue to study cancer, and specifically something with a real human-disease focus,” she says with youthful candor.

“Everyone—from the cores, to the support facilities, to fellow researchers—has been supportive and quick to assist. It really feels like a community working together for a common goal.

I’d love to come back after my postgraduate work.”

HIGHLIGHT

EDITION

Sanford-Burnham hosted the sixth annual Bring It! event at the San Diego Hall of Champions in San Diego, Calif., on Thursday, May 1, 2014.

Co-Chairs Linde Hotchkiss and Kristoffer Kelly

Bob Kelly, Kristoffer Kelly, Leslie Niswander, and Debi Kelly

Jacques Cesaire, Jeff Adler, Travis LaBoy, and Laura Powers

Jay Ross, Peter and Erin Preuss

Event co-chairs Linde Hotchkiss and Kristoffer Kelly led guests in a sports-themed game show featuring trivia and entertaining stage challenges.

More than 200 guests, comprised of San Diego’s business and community leaders, came out to join in the friendly competition benefiting vital medical research.

The Institute would like to give special thanks to title sponsor Alexandria Real Estate Equities, Inc. for their generous support of this year’s event.

Team Creative Fusion

Bring It! Playoffs champions Team Mintz Levin with MVP Morgan Fischer

Darren Shou, Scott Murfey, Steve Wampler, Melissa Murfey, Beth Zelonis-Shou, and Elizabeth Wampler

Jason Hartley, Mike Combs, Drew Garrison, and Jared Aaker

Team Alexandria Real Estate

www.sanfordburnham.org | PORTAL

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Past Events Cystic Fibrosis Foundation Tour

Sanford-Burnham hosted a tour for the Cystic Fibrosis Foundation’s San Diego chapter April 29. During the visit, key members of the foundation’s leadership team met with Sanford-Burnham researchers to learn about cystic fibrosis research San Diego Cystic Fibrosis chapter members Katrina Young, Broc Glover, and Dr. Mark Pian (far taking place at the Institute. right) pictured with Sanford-Burnham at La Jolla scientific director Dr. Ze’ev Ronai and Carol Cox, Guests were excited to hear a senior vice president of External Relations. special presentation by Ze’ev Ronai, Ph.D., scientific director of the La Jolla campus, on his lab’s most recent work in cystic fibrosis—including exclusive insight into research that has yet to be published.

The visit also featured a stop at the Conrad Prebys Center for Chemical Genomics, where visitors learned how Sanford-Burnham scientists are translating their discoveries into innovative therapeutics. It was a brilliant morning, filled with excitement. We were thrilled to share our discoveries with like-minded medical research advocates.

The Baton Pass

On May 12, Sanford-Burnham researchers, staff, and supporters came together for The Baton Pass™, a joint campaign between Siemens and Stand Up To Cancer® (SU2C) to raise funds for SU2C’s innovative cancer research.

For every pass of the baton, either physically or virtually, from March 19 to September 5, Siemens will donate $1 to Stand Up To Cancer.

National High-5-A-Thon

April 17 was the National High5-A-Thon for Cancer Research.

This year we have been chosen as one of the beneficiaries for the funds raised to support cancer research.

We’d like to give a very special thank you to everyone who joined the celebration and showed their support for the incredible work being done to fight cancer here at Sanford-Burnham.

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Upcoming Events November 1

Annual Gala

SANFORD-BURNHAM’S

2014

San Diego’s premiere event for supporters of medical research.

Sanford-Burnham’s annual gala will be held Saturday, November 1, at the Estancia La Jolla Hotel & Spa. Guests will enjoy a memorable evening of delectable food, exquisite drinks, and top-notch entertainment in support of pioneering medical research.

ANNUAL GALA

This year’s theme, taken from the classic 1935 Irving Berlin musical “Top Hat,” will transport guests to the glittering era of Hollywood glitz and glamour.

Mark your calendars now and plan to join event co-chairs Lisa and Steven Cassidy and Karen and Stuart Tanz for an unforgettable evening benefiting vital medical research.

Alma’s Story Continued from Page 3 from the Middle East, where consanguinity in marriage is still common. Gleeson had seen children with symptoms similar to Alma’s. To determine how this gene fit into glycosylation, he too asked Freeze for help.

Freeze’s lab manager, Bobby Ng, has a reputation as a biomedical sleuth. Relying on sharp instincts and knowledge of Alma’s condition, Ng discovered that each of her parents has an SRD5A3 mutation and Alma inherited both. “It’s always exciting to identify the cause of a genetic disorder that has never been reported,” said Ng. “But this was special because we knew the Kashkoolis. The most rewarding part of solving these cases is being able to tell the families, ‘We got it!’ ” Alma and Farima are headed to the National Institutes of Health (NIH) to launch an assessment study of CDG patients. “Dr. Freeze learned that the NIH approved a new CDG protocol,” said Farima. “Alma will be the first patient in the protocol.” The

10-year-old likely will not benefit from the results of the study, because its goal is to establish baseline data about CDG patients, which will prove valuable in the long-term pursuit of therapeutic options. But her mother is still excited about participating.

“It is my responsibility to do this even though I know it won’t work for my baby,” she said. “This could produce new knowledge about Alma’s disease that will be useful for other children who have it.”

“The NIH is taking this on in a big way,” said Freeze. “It will be a huge effort to gather information and learn more about these patients, and Alma is taking the lead.”

When Freeze first met Alma and Farima, he was reminded of another little girl and her mother. “My younger sister was developmentally disabled, and I always marveled at how my mother cared for her with such devotion,” he recalled. “I call it ‘mom power.’ It’s a humbling thing to see.” www.sanfordburnham.org | PORTAL

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Nonprofit Organization U.S. Postage 10901 N. Torrey Pines Road, La Jolla, CA 92037

Pedal the Cause— San Diego

Sign Up Today to Join 2014’s Ride Pedal the Cause is gearing up for the second annual bike ride on September 20-21, 2014. The only multi-day cycling fundraiser to support cancer research in San Diego, Pedal the Cause provides critical funding to the community’s three NCI-designated cancer centers.

This year’s ride features 10, 25, and 50-mile courses, as well as a two-day cycling route from La Jolla to Temecula, California. Virtual-rider and volunteer positions are also available and offer those who choose not to ride a way to participate and support local cancer research.

Registration is now open and teams are forming fast. Find out more or sign up today at sandiego.pedalthecause.org.

Join now and ride to end cancer!

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PAID

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