Hereditary Disease Foundation Leadership 2023

LEADERSHIP

ANNE B. YOuNg, MD, PhD

ChAIR, SCIENTIFIC ADVISORY BOARD

Chair Emerita, Department of Neurology

Massachusetts General Hospital

Distinguished Julieanne Dorn Professor of Neurology

Harvard Medical School

Royal College of Physicians, London

American Academy of Arts and Sciences

National Academy of Medicine

With funding from the Hereditary Disease Foundation and the National Institutes of Health, Anne Young has been involved in Huntington’s disease research for four decades. Anne participated in the Hereditary Disease Foundation’s Venezuela HD Project from 1981 until 2002 when the team could no longer return because of then Venezuelan President Hugo Chavez’s restrictions. In Venezuela, Anne focused on making accurate diagnoses, drawing blood for DNA, taking skin biopsies and helping collect tissue samples generously donated by the Venezuelan HD family members. Of the 20,000 neurological exams performed, Anne did many of them. Anne trained and mentored medical students and residents who joined the team.

Anne and her late husband John B. (“Jack”) Penney, Jr. tested new models of how the basal ganglia controls movements. They based their theories on data from animal and postmortem human brain samples. They discovered, through clever experiments, how the basal ganglia are affected in Huntington’s and Parkinson’s diseases. The basal ganglia controls movement, reward, emotions and memory. Anne and Jack’s model suggested the design of therapies that would help both diseases.

Anne was recruited in 1991 to Harvard Medical School and Massachusetts General Hospital as the hospital’s first female head of a department. She founded and designed the MassGeneral Institute for Neurodegenerative Diseases (MIND) in 2001 to accelerate the discovery of new and effective therapies for these disorders. Anne is a driving force in the Hereditary Disease Foundation’s Scientific Advisory Board which she chairs. She also plays a key role on the Foundation’s Board of Directors as its Vice Chair. She received the HDF’s Leslie Gehry Brenner Prize for Innovation in Science in 2016.

What ties the researchers who have committed their careers to Huntington’s disease research are the families. I am in awe of how the HD families cope and am driven by trying to provide hope to these families and doing something that can impact the disease. I have a great urgency for helping to find a cure for Huntington’s disease.

Leslie M. Thompson, PhD University of California, Irvine

BoARD oF DIRECToRS

Leadership

The work of the Hereditary Disease Foundation is guided by our Board of Directors and the Scientific Advisory Board. The Board of Directors focuses on the Foundation’s mission by setting goals, overseeing programs and activities, and providing fiscal guidance. The Scientific Advisory Board, composed of distinguished scientists from around the world, sets the scientific priorities for the Foundation, reviews grant and fellowship applications and selects the most innovative and promising research projects for funding.

Board of Directors

Karen Newman, Chair

Anne B. Young, MD, PhD, Vice Chair

Bruce Donaldson, Treasurer

Alice Wexler, PhD, Secretary

C. Frank Bennett, PhD

Robi Blumenstein

Meghan Donaldson

Barry Evenchick

Sandy Fox

Tacie Fox

Lifetime Directors*

Julie Andrews

James Blanchard

Deborah Blethen

Betty Borman

Carol Burnett

Jodie Evans

Dewanna Golding

Jonathan Guest

Robert Higashi, CPA

Jonathan Matz

Elaine May

John Moorhouse

Virginia Moorhouse

Joyce Ostin

Berta A. Gehry

Frank O. Gehry

Kelly Posner Gerstenhaber, PhD

David Housman, PhD

Joan Leiman, PhD

Herbert Pardes, MD

Lauren Baker Pinkus

Leslie M. Thompson, PhD

Nancy S. Wexler, PhD

David Zwally

Michael Ostin

Steven Perez

Vincente Perez

Patricia Phelps, PhD

Marisa Pouw

Alison Rubinson

Joel Rubinson

Mary Carol Rudin

Susan Rudin

David Shea

Jennifer Shea

Susan I. Spivak

Billie Milam Weisman

Leslie M. Thompson, PhD, Chair

University of California, Irvine

Diane E. Merry, PhD, Vice Chair

Thomas Jefferson University

Gillian P. Bates, FMedSci, PhD, FRS

University College London (UCL) Institute of Neurology

C. Frank Bennett, PhD

Ionis Pharmaceuticals

Yvette Bordelon, MD, PhD

David Geffen School of Medicine at UCLA

Beverly L. Davidson, PhD

Children’s Hospital of Philadelphia

University of Pennsylvania

Steven Finkbeiner, MD, PhD

Gladstone Institutes

University of California, San Francisco

Judith Frydman, PhD

Stanford University

Michelle Gray, PhD

University of Alabama at Birmingham

Myriam Heiman, PhD

Massachusetts Institute of Technology

H. Robert Horvitz, PhD

Howard Hughes Medical Institute

Massachusetts Institute of Technology

2002 Nobel laureate

David E. Housman, PhD

Massachusetts Institute of Technology

Jeffery W. Kelly, PhD

The Skaggs Institute for Chemical Biology

The Scripps Research Institute

Blair R. Leavitt, MDCM FRCPC

University of British Columbia

Michael S. Levine, PhD

David Geffen School of Medicine at UCLA

Jeffrey D. Long, PhD

University of Iowa

John Mazziotta, MD, PhD

UCLA Health Sciences

SCIEnTIFIC ADvISoRy BoARD

X. William Yang, MD, PhD, Vice Chair

David Geffen School of Medicine at UCLA

Anne B. Young, MD, PhD, Chair Emerita

Massachusetts General Hospital

Harvard Medical School

Richard I. Morimoto, PhD

Northwestern University

A. Jennifer Morton, PhD, ScD, FRSB

University of Cambridge

Richard C. Mulligan, PhD

Harvard Medical School

Harry T. Orr, PhD

University of Minnesota

Henry L. Paulson, MD, PhD

University of Michigan

Christopher E. Pearson, PhD

The Hospital for Sick Children (SickKids)

University of Toronto

Bernard M. Ravina, MD

Atlas Venture

Lynn A. Raymond, MD, PhD, FRCPC

University of British Columbia

H. Diana Rosas, MD

Massachusetts General Hospital

Harvard Medical School

Joan S. Steffan, PhD

University of California, Irvine

Sarah J. Tabrizi, FRCP, PhD, FMedSci

University College London (UCL) Institute of Neurology

Leslie P. Weiner, MD

University of Southern California

Nancy S. Wexler, PhD

Hereditary Disease Foundation

Columbia University

Ai Yamamoto, PhD

Columbia University

Andrew S. Yoo, PhD

Washington University School of Medicine

Scott Zeitlin, PhD

University of Virginia School of Medicine

ADvISoRy

LESLIE M. THoMPSon, PHD CHAIR, SCIEnTIFIC

Donald Bren and Chancellor’s Professor

Department of Psychiatry and Human Behavior

Department of Neurobiology and Behavior

University of California, Irvine

BoARD

Dr. Leslie Thompson has studied Huntington’s disease for most of her scientific career. She was a member of the the HDF’s Venezuela Project that identified the causative gene for HD in 1993. She is trying to understand how the HD mutation damages brain cells and identify targets for new drugs to prevent or ameliorate the damage. She is also looking at how the mutation influences modifications of the huntingtin protein and other cellular molecules. In addition, Dr. Thompson worked with a group of investigators to establish the HD patient-derived iPS cell consortium (induced pluripotent stem cells) and is using stem cells to study HD through multi-institutional collaborations and Big Data approaches. She is currently evaluating the use of human neural stem cells as a possible therapy for HD.

Dr. Thompson is an American Association for the Advancement of Science fellow. She received the HDF’s Leslie Gehry Brenner Prize for Innovation in Science in 2013.

DIAnE MERRy, PHD

vICE CHAIR, SCIEnTIFIC ADvISoRy BoARD

Professor and Vice Chair

Department of Biochemistry and Molecular Biology

Thomas Jefferson University

Dr. Diane Merry researches the molecular mechanisms underlying inherited neurodegenerative disease, with a primary focus on Kennedy’s disease, which is caused by the identical and unusual genetic mutation that causes Huntington’s disease. Dr. Merry’s group has developed and utilized unique cell and mouse models to both understand mechanisms of disease and identify molecular targets for therapeutic development. Over the past decades her group has made important and fundamental discoveries into the structural and functional requirements of the mutant androgen receptor (AR) protein in disease and has identified several AR targets that are in preclinical development.

Dr. Merry serves as Vice Chair of the Department of Biochemistry and Molecular Biology at the Sidney Kimmel Medical College of Thomas Jefferson University and chairs the Scientific Advisory Board for the Vickie & Jack Farber Institute for Neuroscience at Jefferson.

X. WILLIAM yAng, MD, PHD

vICE CHAIR, SCIEnTIFIC ADvISoRy BoARD

Professor

Terry Semel Chair in Alzheimer’s Disease Research and Treatment

Center for Neurobehavioral Genetics

The Jane and Terry Semel Institute for Neuroscience & Human Behavior

Department of Psychiatry & Biobehavioral Sciences, Brain Research Institute

David Geffen School of Medicine at UCLA

Dr. X. William Yang co-invented a powerful mouse genetic technology to engineer bacterial artificial chromosomes (BACs) and to generate BAC transgenic mice. His laboratory at UCLA has made significant contributions to the development of transgenic mouse models for human neurodegenerative disorders including Huntington’s, Parkinson’s and Alzheimer’s diseases, and the use of such models to dissect disease mechanisms and identify therapeutic targets.

The Yang lab has also applied novel genetic and systems biology approaches to study brain gene expression, and to decipher RNA and protein networks for HD in particular. They study the role of basal ganglia circuitry in the generation of normal and pathological behaviors. The Yang lab invented a new mouse genetic tool (called MORF mice) for brainwide labeling of thousands of neurons and glial cells to illuminate their exquisite morphology. Dr. Yang received the NIH’s BRAIN Initiative award, the McKnight Foundation’s Brain Disorder Award, and the HDF’s 2014 Leslie Gehry Brenner Prize for Innovation in Science. He is a member of the American Society for Clinical Investigation.

AnnE B. young, MD, PHD CHAIR EMERITA, SCIEnTIFIC ADvISoRy BoARD

Chair Emerita, Department of Neurology

Massachusetts General Hospital

Distinguished Julieanne Dorn Professor of Neurology, Harvard Medical School

Royal College of Physicians, London

American Academy of Arts and Sciences

National Academy of Medicine

Dr. Anne B. Young is an acclaimed researcher and clinician whose work at the bench and bedside has concentrated on neurotransmitter systems in the basal ganglia and their role in Huntington’s, Alzheimer’s and Parkinson’s diseases. She and her late husband John B. (“Jack”) Penney, Jr. first conceptualized a model of the functional anatomy of the basal ganglia that has been termed the “classical” model. They both played key roles in the HDF’s Venezuela Project which led to the identification of the HD gene.

Dr. Young was recruited in 1991 to Harvard Medical School and Massachusetts General Hospital as the hospital’s first female head of a department. She founded and designed the MassGeneral Institute for Neurodegenerative Diseases (MIND) in 2001 to accelerate the discovery of effective therapies for these diseases. In addition to training generations of outstanding clinicians and researchers, she has served on many editorial and advisory boards, served as president of the Society for Neuroscience, and received many awards and honors, including the HDF’s 2016 Leslie Gehry Brenner Prize for Innovation in Science.

gILLIAn P. BATES, FMEDSCI, PHD, FRS

Professor of Molecular Neuroscience

Co-Director Huntington’s Disease Centre University College London (UCL) Institute of Neurology

Fellow, Royal Society

Dr. Gillian Bates was a member of the HDF’s Venezuela Project that identified the causative gene for HD in 1993. She went on to develop the first mouse model of HD in 1996. She currently uses mouse models to understand the earliest events that cause HD, validate approaches to treating this disease and steer drug development programs.

In 2013 Dr. Bates demonstrated that, when carrying the HD mutation, the HD gene produces a small, truncated huntingtin protein (exon 1 HTT) along with the complete HTT protein. This exon 1 HTT is known to readily form the aggregates that are found in HD patient brain tissue and to cause brain cell dysfunction. Finding approaches that will decrease exon 1 HTT levels has become an important goal in developing treatments that will delay the onset or slow the progression of HD. Dr. Bates received the HDF’s Leslie Gehry Brenner Prize for Innovation in Science in 2012.

Neurons vulnerable in HD

Chang Sin Park and X. William Yang (UCLA)

C. FRAnk BEnnETT,

PHD

Chief Scientific Officer

Ionis Pharmaceuticals

2019 Breakthrough Prize in Life Sciences

Dr. C. Frank Bennett is one of the founding members of Ionis Pharmaceuticals, leading much of their preclinical antisense drug discovery and antisense technology research. He has been involved in the development of antisense oligonucleotides as therapeutic agents, including research on the application of oligonucleotides for inflammatory, neurodegenerative diseases and cancer, oligonucleotide delivery, pharmacokinetics and medicinal chemistry. He has published more than 230 papers in the field of antisense research and development and has more than 175 issued US patents.

Dr. Bennett collaborated with Adrian Krainer, of Cold Spring Harbor Laboratory, to develop Spinraza, the first effective therapy for spinal muscular atrophy (SMA). SMA is a progressive neurodegenerative disease and the number one genetic cause of death for infants. It affects the motor nerve cells in the spinal cord and impacts the muscles used for activities such as breathing, eating, crawling, and walking. Since Spinraza’s approval in 2016, more than 11,000 people have been treated with it worldwide.

Prior to joining Ionis, Dr. Bennett was Associate Senior Investigator in the Department of Molecular Pharmacology at SmithKline and French Laboratories, currently GSK. He received HDF’s 2018 Leslie Gehry Brenner Prize for Innovation in Science.

We are now in the clinical trials era of Huntington’s disease. This is new. This was a dream five years ago.

Ray Truant, PhD McMaster University, Hamilton, Ontario, Canada

SCIEnTIFIC ADvISoRy BoARD

yvETTE

BoRDELon, MD, PHD

Clinical Professor

Department of Neurology

David Geffen School of Medicine at UCLA

Dr. Yvette Bordelon’s clinical work involves the diagnosis and treatment of Parkinson’s disease, Huntington’s disease and other movement disorders. Her clinical research interests include the development of biomarkers for neurodegenerative diseases and conducting clinical trials in movement disorders. She performed her thesis work with former Scientific Advisory Board member Dr. Marie-Françoise Chesselet, investigating mechanisms of cell death in an animal model of HD. As a member of the HDF’s Venezuela Project, she gained clinical experience performing numerous neurological exams.

BEvERLy L. DAvIDSon, PHD

Katherine A. High Chair in Cell and Gene Therapy

Director, Raymond G. Perelman Center for Cellular and Molecular Therapeutics

Chief Scientific Strategy Officer, Children’s Hospital of Philadelphia

Professor, Pathology and Laboratory Medicine

University of Pennsylvania

American Academy of Arts Sciences

National Academy of Medicine

Dr. Beverly Davidson’s laboratory focuses on genetic diseases that affect the brain, investigating how mutant gene products contribute to disease, and why certain brain regions are more susceptible than others. Her team employs advanced molecular methods, sequencing and imaging in animal models, and a variety of molecular tools to test various hypotheses. Her lab is also developing next generation therapeutics for inherited disorders, including the engineering of novel gene therapy vector capsids and cargo to approach tissue and cell type specific treatments.

Recent honors include the 2023 National Ataxia Foundation’s Dr. John W. Schut Research Achievement Award. She is immediate past president of the American Society of Gene and Cell Therapy, the largest international association of gene and cell therapy research. Dr. Davidson received the HDF’s Leslie Gehry Brenner Prize for Innovation in Science in 2015.

STEvEn FInkBEInER, MD, PHD

Director, Center for Systems and Therapeutics

Director, Taube/Koret Center for Neurodegenerative Disease

Gladstone Institutes

Professor, Departments of Neurology and Physiology

University of California, San Francisco

Dr. Steven Finkbeiner is interested in understanding mechanisms of neurodegenerative disease and developing therapeutic strategies and therapies. He has studied HD since 1998, inventing and applying innovative methods and tools, including robotic microscopy, stem cells and artificial intelligence. His landmark study in 2004 in Nature changed the way the field thought about the hallmark pathology in Huntington’s disease, the most cited paper in neuroscience for the decade. With philanthropists in the San Francisco Bay Area, he established the Taube-Koret Center, which works to translate the most promising discoveries from the labs into therapeutics, often in partnership with drug companies. His most promising HD therapeutic strategy stimulates a pathway in cells that helps clear the abnormal Huntingtin protein. Dr. Finkbeiner received the HDF’s Leslie Gehry Prize for Innovation in Science in 2022.

Steven Finkbeiner, MD, PhD Gladstone Institutes

University of California, San Francisco

It’s about really making a difference and trying to impact this disease and bring a cure to the patients. If the path to get there doesn’t exist, let’s invent it!

SCIEnTIFIC ADvISoRy BoARD

JuDITH FRyDMAn, PHD

Donald Kennedy Chair in Humanities and Sciences

Professor, Departments of Biology and Genetics

Stanford University

American Academy of Arts and Sciences

National Academy of Science

Dr. Judith Frydman grew up in Buenos Aires, Argentina. She received her PhD in Biochemistry from the University of Buenos Aires. She carried out her postdoctoral training at the Sloan Kettering Institute in New York.

Dr. Frydman’s research focuses on understanding how proteins fold in cells. The Frydman lab uses a multidisciplinary approach to address fundamental questions about molecular chaperones (proteins that aid in folding), protein folding and degradation. In addition to basic mechanistic principles, she and her team aim to define how impairment of protein folding and quality control are linked to disease, including cancer and neurodegenerative diseases such as Huntington’s disease. She examines whether reengineering chaperone networks can provide therapeutic strategies.

MICHELLE gRAy, PHD

Associate Professor

Jarman F. Lowder Endowed Professor in Neuroscience

Center for Neurodegeneration and Experimental Therapeutics

Department of Neurology

University of Alabama at Birmingham

Dr. Michelle Gray completed her doctoral training in developmental neurobiology at Ohio State University. During her postdoctoral training with Scientific Advisory Board member Dr. X. William Yang at the University of California, Los Angeles, she helped develop a BACHD mouse model (Bacterial Artificial Chromosome human mutant Huntingtin).

Dr. Gray is now the Dixon Scholar in Neuroscience and a member of the Center for Neurodegeneration and Experimental Therapeutics at University of Alabama at Birmingham where her lab has a specific interest in the role of mutant Huntingtinexpressing astrocytes in the pathogenesis of Huntington’s disease. Her lab has demonstrated that astrocytes are key contributors to the progression of Huntington’s disease-like phenotypes using the conditional BACHD model as well as a differential role of gliotransmission on behavior using this model. A current focus of the lab is understanding the astrocyte and interneuron interactions in the striatum that contribute to the pathogenesis of Huntington’s disease.

MyRIAM HEIMAn, PHD

Latham Career Development Chair Associate Professor

Department of Brain and Cognitive Sciences

Massachusetts Institute of Technology

Investigator, Picower Institute for Learning and Memory

Dr. Myriam Heiman uses HD patient tissue as well as mouse and cell models of HD to understand why some cells are more or less vulnerable to the mutant HD gene. She uses knowledge of these intrinsic differences to identify new therapeutic targets for HD. Dr. Heiman has pioneered the use of in vivo genetic screening in the mammalian brain, as well as the use of novel single-cell and cell type-specific transcriptional profiling tools to study HD. Her work has recently pointed to the importance of neuronal innate immune activation and cell type-specific mitochondrial dysfunction in HD pathogenesis. She is the recipient of several awards, including an Early Career Investigators Innovation Award from the Bumpus Foundation, a EUREKA grant from the National Institutes of Health and awards for excellence in graduate mentoring and undergraduate teaching from MIT.

H. RoBERT HoRvITz, PHD

Investigator, Howard Hughes Medical Institute

Professor of Biology, Massachusetts Institute of Technology

Nobel Laureate

National Academy of Sciences

American Academy of Arts and Sciences

National Academy of Medicine

Dr. Robert Horvitz, 2002 Nobel laureate in Physiology or Medicine, is interested in how genes control animal development and behavior and affect human health. Dr. Horvitz has made seminal discoveries concerning the genetic regulation of signal transduction and programmed cell death. By using the experimentally tractable roundworm Caenorhabditis elegans as an experimental organism, he and his team have identified key genes involved in cell lineage, cell fate, cell signaling and programmed cell death as well as in nervous system development and function. They have identified and analyzed molecular and cellular pathways responsible for these and other important biological processes. Their goals are to understand fundamental aspects of biology and to provide mechanistic insights into human diseases, including cancer and neurodegenerative disorders.

SCIEnTIFIC ADvISoRy BoARD

DAvID E. HouSMAn, PHD

Ludwig Professor of Biology

Massachusetts Institute of Technology

National Academy of Sciences

National Academy of Medicine

Dr. David Housman uses genetic approaches to identify the molecular basis of human disease pathology. He develops strategies to combat three major diseases: trinucleotide repeat disorders like Huntington’s disease, cancer and types of cardiovascular disease.

Dr. Housman’s research guided the search leading to the 1983 discovery of the HD marker, the first DNA marker ever for a genetic disease. This discovery led a group of scientists to find the HD gene itself in 1993. His current research focuses on identifying modifier genes which are responsible for variation in age of onset for HD in humans as well as in mouse models. His lab also focuses on the identification and development of small molecules which show promise for therapeutic intervention in HD.

Dr. Housman has received many prizes and awards. He has also founded and co-founded several pharmaceutical companies. He was the first recipient of the HDF’s Leslie Gehry Brenner Prize for Innovation in 2010.

Cortical neurons made from stem cells Chris Paiz and Julia Kaye, Finkbeiner Lab (Gladstone Institutes)

SCIEnTIFIC ADvISoRy BoARD

JEFFERy W. kELLy, PHD

Lita Annenberg Hazen Professor of Chemistry

Department of Chemistry

The Skaggs Institute for Chemical Biology

The Scripps Research Institute

American Academy of Arts and Sciences

2022 Breakthrough Prize in Life Sciences

Dr. Jeffery Kelly discovered the first regulatory-agency-approved drug (tafamidis vyndaqel; Pfizer) that slows the progression of the neurodegenerative disease familial amyloid polyneuropathy and the cardiac disease senile systemic amyloidosis, both caused by the aggregation of the protein transthyretin.

Currently his lab is focused on the discovery of first-in-class drugs that would slow the progression of multiple neurodegenerative diseases by modulating organismal protein homeostasis (e.g. autophagy) and/or neuroinflammation. Dr. Kelly has published over 350 scientific papers and has placed 45 trainees in tenured or tenure-track academic positions and 60 former coworkers in biotechnology and pharmaceutical positions.

BLAIR R. LEAvITT, MDCM, FRCPC

Senior Scientist

Centre for Molecular Medicine and Therapeutics Professor

Department of Medical Genetics

University of British Columbia

Dr. Blair Leavitt, a neurologist, is a long-standing member and former Co-Chair of the Huntington Study Group, an established Huntington’s disease clinical trial investigator, and the Director of Research at the UBC Centre for HD in Vancouver. He has an ongoing clinical research program in neurogenetics with a focus on HD. A laboratory scientist as well as a practicing neurologist, his laboratory is dedicated to developing and testing new treatments for genetic diseases of the brain and spinal cord. Using genetically-modified mouse models of human disease as his primary tool, Dr. Leavitt’s research focuses on developing new therapies for devastating neurodegenerative diseases such as HD, frontotemporal dementia and ALS. His work includes research programs searching for clinical biomarkers in HD and identifying new genetic causes of ataxia, epilepsy, neurodevelopmental disorders, and autism.

Dr. Leavitt is the co-founder and CEO of Incisive Genetics Inc., a biotech company developing lipid nanoparticle delivery systems for gene editing applications. He is a founding Co-Editor-in-Chief of the Journal of Huntington’s Disease

SCIEnTIFIC ADvISoRy BoARD

MICHAEL S. LEvInE, PHD

Vice Chancellor for Academic Personnel

Distinguished Professor of Psychiatry and Biobehavioral Sciences

David Geffen School of Medicine at UCLA

Dr. Michael Levine’s laboratory focuses on the neurophysiological mechanisms underlying neurodegenerative disorders. His multi-disciplinary work carries implications for disorders such as Huntington’s and Parkinson’s diseases and pediatric epilepsy. He has published over 250 peer-reviewed research reports as well as more than 30 book chapters.

Dr. Levine is a fellow of the American Association for the Advancement of Science and received the National Association for Research on Schizophrenia and Depression’s Distinguished Investigator Award in 1999. He has served as the Department of Psychiatry and Biobehavioral Sciences’ Associate Chair for Academic Affairs, the Special Assistant to two Vice Chancellors for Academic Personnel, Chair of the Undergraduate Interdepartmental Program in Neuroscience, Chair of the Interdepartmental PhD Program in Neuroscience, and Associate Director of the Intellectual and Developmental Disabilities Research Center. He presently also serves as the Vice Chancellor for Academic Personnel at UCLA.

JEFFREy D. Long, PHD Professor

Departments of Psychiatry and Biostatistics

University of Iowa

Dr. Jeffrey Long is a data scientist who has been working in Huntington’s disease for over 12 years with emphasis on characterizing progression. Dr. Long helped develop the Huntington’s Disease Integrated Staging System (HD-ISS), which is a new biologically based and data-supported staging system for HD. He also developed the normed prognostic index for HD (PIN), and helped develop the CAG-age product, both of which can be used for characterizing progression and enrichment of treatment populations for clinical trials. Dr. Long has analyzed imaging, biofluid, and clinical data for several large observational studies in HD, including PREDICT-HD, TRACK-HD, and Enroll-HD. He actively works with sponsors and non-profits to assist in the planning of clinical trials for disease-modifying therapies.

JoHn MAzzIoTTA, MD, PHD

Vice Chancellor, UCLA Health Sciences

CEO, UCLA Health

Royal College of Physicians, London

National Academy of Medicine

Dr. John Mazziotta is recognized as one of the world’s foremost experts on brain imaging. He also was the principal investigator of the International Consortium for Brain Mapping, leading a world-wide effort to create the first atlas of the human brain, including behavioral, demographic, imaging and genetic data.

Dr. Mazziotta has published more than 260 research papers and eight texts. He has received numerous awards and honors, including the Oldendorf Award from the American Society of Neuroimaging, the S. Weir Mitchell Award and the Wartenberg Prize of the American Academy of Neurology, and the Von Hevesy Prize from the International Society of Nuclear Medicine. He has been Vice Chancellor of UCLA Health Sciences and CEO of UCLA Health since 2015.

RICHARD I. MoRIMoTo, PHD

Bill and Gayle Cook Professor of Biology

Department of Molecular Biosciences

Director, Rice Institute for Biomedical Research

Northwestern University

American Academy of Arts and Sciences

Dr. Richard Morimoto studies cell stress responses that detect damaged proteins that occur in aging and neurodegenerative diseases including Huntington’s, Alzheimer’s, Parkinson’s and ALS. His laboratory focuses on how proteins misfold and the role of genetic pathways that detect and prevent misfolding, and the use of small molecules to delay or prevent protein aggregation and disease.

Dr. Morimoto has received numerous awards including the National Institutes of Health MERIT Award twice and the Huntington’s Award for Excellence in Medicine from the Huntington’s Disease Society of America. He is a co-founder— together with Andrew Dillin and fellow HDF SAB member Jeffery Kelly—of Proteostasis Therapeutics, Inc., a company which aims to discover small molecule therapeutics for diseases of protein conformation.

A. JEnnIFER MoRTon, PHD, SCD, FRSB

Professor of Neurobiology

University of Cambridge

Professorial Fellow

Director of Studies in Medicine and Veterinary Medicine

Newnham College, Cambridge

A. Jennifer Morton has been working on Huntington’s disease ever since she set up her laboratory at the University of Cambridge in 1991. She is interested in understanding the relationship between neurodegeneration and the neurological symptoms in HD. She is particularly interested in sleep, circadian rhythms and cognitive decline in HD. With funding from the Hereditary Disease Foundation, The Wellcome Trust, and CHDI Foundation, she has characterized the behavioral profile of a number of mouse models of HD.

For the past 10 years, Dr. Morton has also been working with HD sheep. She believes that, although it is an unconventional model, there is much to be gained from understanding the behavioral pathology in this large-brained diurnal model of HD. Her lab’s goal is to identify quantifiable measures of behavior that can be used to test the efficacy of novel therapies for HD.

RICHARD C. MuLLIgAn, PHD

Director, Harvard Gene Therapy Initiative

Laboratory of Molecular Medicine

Mallinckrodt Professor of Genetics

Children’s Hospital

Harvard Medical School

Dr. Richard Mulligan is an internationally recognized pioneer in the development of new technologies for transferring genes into mammalian cells. Scientists use the specialized tools created in his laboratory to unravel basic questions about human development and to devise new therapies for the treatment of both inherited and acquired diseases.

Dr. Mulligan is the Mallinckrodt Professor of Genetics at Harvard Medical School and Director of the Harvard Gene Therapy Initiative, an integrated effort of basic scientists and clinical investigators at Harvard University and its affiliated hospitals directed towards the pre-clinical and clinical evaluation of novel gene-based therapies for inherited and acquired diseases. His honors include the MacArthur Foundation Prize, the Rhodes Memorial Award of the American Association for Cancer Research, the ASMB-Amgen Award, and the Nagai Foundation International Prize.

HARRy T. oRR,

PHD

James Schindler and Bob Allison Ataxia Chair in Translational Research Professor, Department of Laboratory Medicine and Pathology Director, Institute for Translational Neuroscience

University of Minnesota

National Academy of Medicine

Dr. Harry Orr’s laboratory at the University of Minnesota has a long-standing and productive National Institute of Neurological Disorders and Stroke-supported research program on the use of genetics, biochemical, and behavioral approaches in the study of neurodegeneration with a focus on the human disease spinocerebellar ataxia type 1 (SCA1). In collaboration with Dr. Huda Zoghbi at Baylor University, they cloned the gene affected in SCA1- the first genetically defined ataxia. They then established the first transgenic mouse model of a polyglutamine disease. This model is the center of continued studies on the normal function of the gene product, ataxin-1, as well as the SCA1 pathogenic process. The work is among the first studies to indicate that regions outside of the polyQ tract are critical for disease. Identification of molecular pathways involved in neurodegenerative disease can be significant in development of efficacious targets for intervention. A current focus is on two signaling pathways, each having distinct but seminal roles in SCA1. Dr. Orr received the 2022 Kavli Prize in Neuroscience for his pioneering genetic research on SCA1.

Neurons of mouse brain

Megan S. Keiser, Davidson Lab (CHOP)

HEnRy L. PAuLSon, MD, PHD

Lucile Groff Professor in Neurology Director, Michigan Alzheimer’s Disease Research Center

University of Michigan Health System

National Academy of Medicine

Dr. Henry Paulson explores the reasons why the aging brain degenerates in various neurodegenerative diseases. His research focuses on Huntington’s disease, spinocerebellar ataxia type 3 and several other inherited ataxias, as well as Alzheimer’s disease and related protein conformational disorders.

Dr. Paulson pursues both basic studies of disease mechanisms and translational studies in hopes that his research will lead to therapies for these fatal diseases. His leadership roles include directing the Michigan Alzheimer’s Disease Center and codirecting the Michigan Neuroscience Institute.

CHRISToPHER E. PEARSon, PHD

Senior Scientist

Program of Genetics & Genome Biology

The Hospital for Sick Children (SickKids)

Full-Professor

Department of Molecular Genetics, University of Toronto

Canada Research Chair in Disease-Associated Genome Instability

Dr. Christopher Pearson studies the mechanisms of disease-causing repeat expansions. His lifetime goal is to treat repeat diseases by arresting or reversing somatic expansions so as to arrest or reverse disease progression. His lab uses molecular, cellular and mouse models, and patient tissues of Huntington’s disease, myotonic dystrophy, spinocerebellar ataxias, and C9orf72-associated amyotrophic lateral sclerosis (ALS) to focus on DNA repair, DNA damage, epigenetics, and unusual DNA structures formed by the repeats. Recent advances include identifying repeat expansions associated with autism as well as identifying the first small-molecule to induce contractions of the expanded CAG repeat in brains of HD mice.

Dr. Pearson was a Scholar of the Medical Research Council of Canada, Member of the Canadian Genetic Disease Network, and is a Canada Research Chair in Disease-Associated Genome Instability. He serves on scientific advisory boards for numerous venture capital companies and foundations. He is Associate Editor for several scientific journals.

BERnARD RAvInA, MD, MSCE

Entrepreneur in Residence Atlas Venture

Dr. Bernard Ravina’s career has focused on therapeutics development in neurodegenerative and neuropsychiatric disorders. He has over 20 years of clinical research and therapeutics development experience in government, academia, and industry. Prior to working in the biotechnology industry, Dr. Ravina was an Investigator in the Neurogenetics Branch at the National Institute of Neurological Disorders and Stroke (NINDS, NIH), and Associate Professor of Neurology and Vice Chair of Neurology at the University of Rochester School of Medicine. In biotechnology, he was Director of Clinical Development at Biogen and Chief Medical Officer at Voyager Therapeutics.

He holds an MD from the Johns Hopkins University School of Medicine and a Masters in Clinical Epidemiology and Biostatistics from the University of Pennsylvania where he completed residency training in neurology and a fellowship in movement disorders. Dr. Ravina is the author of more than 120 scientific publications and serves on multiple foundation and biotechnology scientific advisory boards.

The Hereditary Disease Foundation has long driven major pioneering discoveries in the field of Huntington’s disease. Its workshops and other programs promoting the research that led to these discoveries have had an immense and far broader impact.

H. Robert Horvitz, PhD Nobel Laureate Howard Hughes Medical Institute Massachusetts Institute of Technology

SCIEnTIFIC ADvISoRy BoARD

Lynn A. RAyMonD, MD, PHD, FRCPC

Director, Djavad Mowafaghian Centre for Brain Health

Professor, Department of Psychiatry, Faculty of Medicine

Louise A. Brown Chair in Neuroscience

Associate Member, Department of Medicine, Division of Neurology

Associate Member, Department of Cellular and Physiological Sciences

University of British Columbia

Dr. Lynn Raymond is a clinician-scientist who trained at Albert Einstein College of Medicine and Johns Hopkins Medical Institutions. She was recruited to the University of British Columbia (UBC) in 1994 where she combines neuroscience research with clinical practice in neurology. She leads a research lab funded by the Canadian Institutes of Health Research (CIHR) and is Clinic Director of the Centre for Huntington Disease.

For many years she has investigated the roles of altered neuronal circuits, synapses and NMDA-type glutamate receptors in Huntington’s disease with the goal of finding therapeutics that slow progression. More recently, Dr. Raymond’s work focuses on changes in cortical and striatal synaptic plasticity and circuit function that may underlie early cognitive and sensorimotor deficits and could contribute to neuronal vulnerability to degeneration.

Dr. Raymond has served as UBC site investigator for several multi-center clinical research studies in Huntington’s disease. Currently, Dr. Raymond serves as Director of the Djavad Mowafaghian Centre for Brain Health at UBC.

H. DIAnA RoSAS, MD

Associate Professor, Departments of Neurology and Radiology

Director, Center for Neuro-imaging of Aging and Neurodegenerative Disease

Massachusetts General Hospital, Harvard Medical School

Dr. H. Diana Rosas focuses primarily on the development of biomarkers for use in the study of neurodegenerative diseases to better characterize progression, to better understand genotype/phenotype correlations, and to apply novel neuro-imaging approaches in clinical trials with the overall aim of making the trials more efficient.

Dr. Rosas and her team have begun to develop models that may explain clinically heterogeneous phenotypes and variability in disease progression. They plan to expand their efforts to include several different types of imaging approaches that promise more precise measurements and may provide novel and important information on the neural underpinnings of HD and their clinical consequences.

SCIEnTIFIC ADvISoRy BoARD

JoAn S. STEFFAn, PHD

Associate Professor

Department of Psychiatry and Human Behavior

University of California, Irvine

Dr. Joan Steffan is studying how a reduction in cellular housekeeping in the brain may contribute to the onset and progression of Huntington’s disease. She identified a role for the Huntingtin protein in a process called autophagy which is a mechanism of protein and organelle clearance by the lysosome, an organelle which contains enzymes that degrade cellular trash to keep the cell clean and generate energy during stressful conditions. She is studying how cellular stress pathways turn on autophagy and induce modification of the Huntingtin protein to activate its autophagic function.

Dr. Steffan has found that normal modification of the Huntingtin protein becomes impaired with the mutation, and that Huntingtin protein levels decline with aging in the part of the brain that is affected by Huntington’s disease. She continues to evaluate whether a loss of Huntingtin function in autophagy with aging and mutation may contribute to Huntington’s disease pathogenesis, and is working to develop therapies that may activate this function with the hopes of slowing disease progression.

SARAH J. TABRIzI, FRCP, PHD, FMEDSCI

Professor of Clinical Neurology Director, Huntington’s Disease Centre

Joint Head of Department of Neurodegenerative Disease

University College London (UCL) Queen Square Institute of Neurology

Principal Investigator, UK Dementia Research Institute at UCL Honorary Consultant Neurologist

National Hospital for Neurology and Neurosurgery, Queen Square

Dr. Sarah Tabrizi leads an internationally recognized bench-to-beside research program at the University College London (UCL) Huntington’s Disease Centre that ranges from studying cellular mechanisms of neurodegeneration to first-in-human clinical trials testing novel disease-modifying therapies. She was first to describe the role of the innate immune system in the pathogenesis of HD, published the first assay of mutant HD protein in human blood cells and cerebrospinal fluid, and led two major international multidisciplinary research initiatives, TRACK-HD and TRACK-ON, yielding fundamental insights into the preclinical stage of HD. Recently she identified and described the mechanisms of important new genetic modifiers of disease progression in HD. Dr. Tabrizi was global clinical PI on the world’s first gene targeting study for HD using anti-sense oligonucleotide therapy, and serves on numerous academic and industry led scientific advisory boards driving preclinical development and translation of nucleic acid and DNA repair therapies for HD.

In 2014, she was elected a Fellow of the UK Academy of Medical Sciences. Among other notable awards, she received the HDF’s Leslie Gehry Brenner Prize for Innovation in Science in 2017, and the UK Medical Research Council’s Millennium Medal 2022 for outstanding achievements in medical research.

SCIEnTIFIC ADvISoRy BoARD

LESLIE P. WEInER, MD

Professor

Molecular Microbiology & Immunology, Neurology

Richard Angus Grant, Sr., Chair in Neurology

Keck School of Medicine

University of Southern California

Dr. Leslie Weiner is a world-renowned neurologist, educator and researcher. He is internationally recognized for his research on the T-cell vaccine for multiple sclerosis. Dr. Weiner served as chair of the USC Department of Neurology for 25 years, guiding its growth from 3 to 40 full-time faculty members. He was instrumental in building neuroscience at USC. The Leslie P. Wiener Neurological Care and Research Center is the hub of outpatient care on the USC Health Sciences campus. The Weiner Chair of Neurology was donated and named in his honor in 2002.

nAnCy S. WEXLER, PHD

President, Hereditary Disease Foundation

Higgins Professor of Neuropsychology, Columbia University

2019 Double Helix Medal

1993 Albert Lasker Public Service Award

Royal College of Physicians, London

American Academy of Arts and Sciences

National Academy of Medicine

Dr.Nancy Wexler has devoted her career to finding treatments and cures for Huntington’s disease. She led the HDF’s history making Venezuela Project, a 22- year international collaborative team, studying the world’s largest Huntington’s disease family in Venezuela, collecting tissue samples, and developing a family tree of over 18,000 individuals spanning 10 generations. This work led to the discovery of the DNA marker for Huntington’s disease in 1983 and the HD gene itself in 1993. This same genetic material has assisted in the mapping of other disease genes, including those responsible for familial Alzheimer’s disease, kidney cancer, two kinds of neurofibromatosis, Lou Gehrig’s disease (ALS), dwarfism and others. One important result of this work was the development of a genetic test to determine if an individual carries the expanded version of the HD gene.

In 2020, the HDF established the Nancy S. Wexler Young Investigator Prize to be awarded annually to a researcher whose work reflects the highest caliber of excellence, diligence and creative thinking. Dr. Wexler has received numerous awards and honors for her work including honorary doctorates from the University of Michigan, Bard College and Yale. She headed a landmark Congressional Commission on the Control and Consequences of Huntington’s Disease from 1976-1978 and chaired the Ethical, Legal and Social Implications Working Group of the Human Genome Project.

AI yAMAMoTo, PHD

Associate Professor of Neurology

Associate Professor of Pathology & Cell Biology

Columbia University

Dr. Ai Yamamoto’s interest in HD research started during college in the laboratory of Dr. Ann Graybiel at Massachusetts Institute of Technology when she learned how the striatum of the brain is central to coordinating movement. With HDF support, she performed her dissertation work with Dr. Rene Hen at Columbia University, where she and her colleague Jose Lucas used inducible mouse genetics to demonstrate that turning off disease-causing genes leads to the reversal of the HD-like symptoms. As a Helen Hay Whitney Postdoctoral Fellow in Dr. James E. Rothman’s laboratory at Yale, Dr. Yamamoto identified the importance of the pathway autophagy in clearing protein aggregates (clumps), a hallmark of HD. These studies have led to a long-standing collaboration with Dr. Anne Simonsen at the University of Oslo pursuing how the protein Alfy regulates the degradation of aggregates by autophagy and its potential impact on HD pathogenesis.

Dr. Yamamoto’s early recognition includes a Dean’s Award of Excellence for her dissertation work, and the Harold and Golden Lamport Award for Excellence in Clinical Science Research. She received the HDF’s Leslie Gehry Brenner Prize for Innovation in Science in 2020.

How can we harness the 21st century toolbox to bring technologies to test all our best ideas, to change the course of Huntington’s disease and to bring about new treatment options? With the concerted effort of scientists from around the world working on HD, we are much closer to reaching that goal.

X. William Yang, MD, PhD David Geffen School of Medicine at UCLA

AnDREW S. yoo, PHD Professor

Department of Developmental Biology

Washington University School of Medicine

Dr. Andrew Yoo has a long-standing interest in understanding genetic networks that govern cell fate choices during development. He obtained his PhD degree at Columbia University, where he studied Notch signaling target genes that regulate progenitor differentiation. As a postdoctoral fellow at Stanford University, Dr. Yoo made seminal discoveries of microRNAs as a molecular switch of chromatin remodeling complexes during neural development. He then leveraged these findings to pioneer the utility of microRNAs as cell reprogramming agents to turn human skin cells directly into neurons.

Since then, the Yoo lab has been developing microRNA-mediated neuronal conversion methods to generate disease-relevant neuronal subtypes from patients to model and study adult-onset neurodegenerative disorders, including Huntington’s disease, primary tauopathy, and Alzheimer’s disease. Dr. Yoo has received numerous awards and honors for his work, including the NIH Director’s New Innovator Award and the Presidential Early Career Award for Scientists and Engineers from the White House.

SCoTT zEITLIn, PHD

Associate Professor of Neuroscience

University of Virginia School of Medicine

Dr. Scott Zeitlin is using mouse models to understand the structure and function of the Huntington’s disease protein and to help develop new therapeutic strategies for HD. Using knock-out, conditional knock-out, and protein domain deletion mutations within the normal and mutant Huntingtin proteins, he and his collaborators are studying how parts of the normal Huntingtin protein contribute to its function and modulate HD pathogenesis.

Dr. Zeitlin’s laboratory has also developed mouse models with regulatable normal and abnormal HD genes that are being used to understand the mechanism of HD pathogenesis. His mice are now the model most widely used by scientists worldwide to discover drugs that could be used to treat Huntington’s disease. Dr. Zeitlin was the 2019 recipient of the HDF’s Leslie Gehry Brenner Prize for Innovation in Science.