Scientific Advisory Board
Our 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.
Leslie M. Thompson, PhD
Department of Psychiatry and Human Behavior
Department of Neurobiology and Behavior
University of California, Irvine
Dr. Leslie Thompson has studied Huntington’s disease for most of her scientific career. She was a member of 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.
Leslie M. Thompson, PhD
Chair
University of California, Irvine
Diane Merry, PhD
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.
Diane E. Merry, PhD
Vice Chair
Thomas Jefferson University
X. William Yang, MD, PhD
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.
X. William Yang, MD, PhD
Vice Chair
David Geffen School of Medicine at UCLA
Anne B. Young, MD, PhD
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.
Anne B. Young, MD, PhD
Chair Emerita
Massachusetts General Hospital
Harvard Medical School
Gillian Bates, FMedSci, PhD, FRS
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.
Gillian Bates, FMedSci, PhD, FRS
University College London (UCL) Institute of Neurology
C. Frank Bennett, PhD
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.
C. Frank Bennett, PhD
Ionis Pharmaceuticals
Yvette Bordelon, MD, PhD
Cedars-Sinai Medical Center and
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.
Yvette Bordelon, MD, PhD
Cedars-Sinai Medical Center and David Geffen School of Medicine at UCLA
Beverly L. Davidson, PhD
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.
Beverly L. Davidson, PhD
University of Pennsylvania
Steven Finkbeiner, MD, PhD
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
University of California, San Francisco
Judith Frydman, PhD
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.
Judith Frydman, PhD
Stanford University
Michelle Gray, PhD
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 Huntingtin- expressing 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.
Michelle Gray, PhD
University of Alabama at Birmingham
Myriam Heiman, PhD
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.
Myriam Heiman, PhD
Massachusetts Institute of Technology
H. Robert Horvitz, PhD
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.
H. Robert Horvitz, PhD
Massachusetts Institute of Technology
David E. Housman, PhD
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.
David E. Housman, PhD
Massachusetts Institute of Technology
Jeffery W. Kelly, PhD
Department of Chemistry
The Skaggs Institute for Chemical Biology
The Scripps Research Institute
American Academy of Arts and Sciences
National Academy of Sciences
2022 Breakthrough Prize in Life Sciences
Dr. Jeffery Kelly’s groundbreaking research on protein misfolding and aggregation has led to therapeutic strategies for a range of devastating neurogenerative and cardiovascular diseases. He discovered the first regulatory-agency-approved drug that slows the progression of the neurodegenerative disease familial amyloid polyneuropathy and the cardiac disease senile systemic amyloidosis (tafamidis; Pfizer), 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 390 scientific papers, he has placed 45 trainees in tenured or tenure-track academic positions, and 60 former colleagues in biotechnology and pharmaceutical positions.
Jeffery W. Kelly, PhD
The Scripps Research Institute
Blair R. Leavitt, MDCM, FRCPC
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.
Blair R. Leavitt, MDCM, FRCPC
University of British Columbia
Michael S. Levine, PhD
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.
Michael S. Levine, PhD
David Geffen School of Medicine at UCLA
Jeffrey D. Long, PhD
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.
Jeffrey D. Long, PhD
University of Iowa
John Mazziotta, MD, PhD
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.
John Mazziotta , MD, PhD
UCLA Health Sciences
Richard I. Morimoto, PhD
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.
Richard I. Morimoto, PhD
Northwestern University
A. Jennifer Morton, PhD, ScD, FRSB
University of Cambridge
Professorial Fellow
Director of Studies in Medicine and Veterinary Medicine
Newnham College, Cambridge
Dr. 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.
A. Jennifer Morton, PhD, ScD, FRSB
Newnham College, Cambridge
Richard C. Mulligan, PhD
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.
Richard C. Mulligan, PhD
Harvard Medical School
Harry T. Orr, PhD
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.
Harry T. Orr, PhD
University of Minnesota
Henry L. Paulson, MD, PhD
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 co-directing the Michigan Neuroscience Institute.
Henry L. Paulson, MD, PhD
University of Michigan Health System
Christopher E. Pearson, PhD
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.
Christopher E. Pearson, PhD
University of Toronto
Lynn A. Raymond, MD, PhD, FRCPC
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.
Lynn A. Raymond, MD, PhD, FRCPC
University of British Columbia
H. Diana Rosas, MD
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.
H. Diana Rosas, MD
Harvard Medical School
Sarah J. Tabrizi, FRCP, PhD, FMedSci
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
Fellow, Royal Society
National Academy of Medicine
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.
Sarah J. Tabrizi, FRCP, PhD, FMedSci
National Hospital for Neurology and Neurosurgery, Queen Square
Leslie P. Weiner, MD
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.
Leslie P. Weiner, MD
University of Southern California
Nancy S. Wexler, PhD
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.
Nancy S. Wexler, PhD
Columbia University
Ai Yamamoto, PhD
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.
Ai Yamamoto, PhD
Columbia University
Andrew S. Yoo, Phd
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.
Andrew S. Yoo, PhD
Washington University School of Medicine
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.
Scott Zeitlin, PhD
University of Virginia School of Medicine