Hope Through Research
Stanley H. Appel, M.D.
Director, Methodist Neurological Institute
Edwards Distinguished Endowed Chair for ALS and Chair of the Department of Neurology at Methodist Hospital Neurological Institute
Professor of Neurology, Weill Cornell Medical College
Stanley H. Appel, M.D., is the Edwards Distinguished Endowed Chair for ALS and chair of the neurology department at Neurological Institute, Methodist Hospital. He previously was chair of the department of neurology at Baylor College of Medicine, as well as chief of the neurology division and the James B. Duke Professor of Medicine at Duke University Medical Center.
Dr. Appel received his bachelor’s degree at Harvard University and his medical degree from Columbia College of Physicians and Surgeons. He is director of the MDA ALS Care Center at Houston Methodist Neurological Institute, and past director of a National Institute of Aging Alzheimer's Disease Research Center.
His clinical and translational research efforts are focused on degenerative neurologic diseases with primary emphasis on amyotrophic lateral sclerosis (ALS). His laboratory has pioneered the theory that neuroinflammation plays a critical role in ALS. His current studies are focused on determining how protective immunity with T cells and microglia could prevent motor neuron injury and cell death.
Dr. Appel is a member of numerous professional societies and committees, and is the author of 15 published books and more than 350 articles. He has received a number of awards for his accomplishments, including the Sheila Essey Award from the American Academy of Neurology and being elected fellow of the American Association for the Advancement of Science.
Barry J. Byrne, M.D., Ph.D.
Early and Christy Powell University Chair in Genetics
Professor and Associate Chair of Pediatrics
University of Florida, College of Medicine
Dr. Barry Byrne is a clinician scientist who is studying a variety of rare diseases with the specific goal of developing therapies for inherited muscle disease. As a pediatric cardiologist, his focus is on conditions that lead to skeletal muscle weakness and abnormalities in heart and respiratory function. His group has made significant contributions to the understanding and treatment of Pompe disease, a type of neuromuscular disease due to glycogen storage in muscle and motor units. The research team has been developing new therapies using AAV-mediated gene therapy to restore muscle function in Pompe and other inherited neuromuscular diseases. His group at the Powell Center has also established a series of new methods for large-scale AAV clinical manufacturing. These strategies are also being applied in Duchenne Muscular Dystrophy (DMD) and Friedreich’s Ataxia (FA), which are in the late stages of clinical development. The work is supported by several NIH and foundation awards.
Dr. Byrne is the Associate Chair of Pediatrics and Director of the University of Florida Powell Center. He obtained his bachelor's degree from Denison University, his medical and doctorate degrees from the University of Illinois, and completed his pediatrics residency and cardiology fellowship as well as post-doctoral training in biological chemistry at the Johns Hopkins Hospital. He joined the University of Florida in 1997 and is now the Early and Christy Powell University Chair in Genetics.
Cristina Csimma, PharmD, MHP
Principal, Csimma LLC
Cristina Csimma’s experience in the biopharmaceutical, venture capital and academic settings encompasses leadership roles in new company formation and fund raising, global drug development in multiple therapeutic areas, translational through registration clinical studies, and integration of biomarkers and novel technologies into development. She was the founding CEO of Cydan Development, Inc., a privately held company focused on advancing the translation of therapeutics for orphan diseases and was previously vice president of drug development at Virdante Pharmaceuticals, Inc., principal at Clarus Ventures, LLC, held leadership roles in clinical development and translational research at Wyeth (now Pfizer) and Genetics Institute, and was a clinical pharmacist at Dana Farber Cancer Institute. She serves on the Boards of Directors of Vtesse, Inc.; Juniper Pharmaceuticals, Inc.; the External Oversight Board to the National Institutes of Health (NIH) NeuroNext Network; the External Oversight Committee of NIH Blueprint Neurotherapeutics Network; the Business Advisory Board of Akashi Therapeutics; the Scientific Advisory Board of CureDuchenne; the TREAT-NMD Advisory Committee for Therapeutics (TACT) and Northeastern University’s Health Sciences Entrepreneurs steering committee. Dr. Csimma received her Bachelor of Science and Doctor of Pharmacy degrees from Massachusetts College of Pharmacy, and a Master of Health Professions from Northeastern University.
Kenneth H. Fischbeck, M.D.
NIH Distinguished Investigator
Porter Neuroscience Research Center
National Institutes of Neurological Disorders and Stroke
Dr. Fischbeck, an NIH Distinguished Investigator, received A.B. and A.M. degrees from Harvard University and a doctor of medicine from Johns Hopkins. After a medical internship at Case Western Reserve University and a neurology residency at the University of California, San Francisco, he did postdoctoral research on muscular dystrophy at the University of Pennsylvania. In 1982, he joined the faculty in the neurology department at the University of Pennsylvania Medical School. In 1998, he came to the National Institutes of Neurological Disorders and Stroke (NINDS) as chief of the neurogenetics branch.
He received the Cotzias Award from the American Academy of Neurology and the Jacoby Award from the American Neurological Association, and was elected to the Institute of Medicine. His research group is identifying the causes and studying the mechanisms of hereditary neurological and neuromuscular diseases, with the goal of developing effective treatments for these disorders.
Amelie Gubitz, Ph.D.
NINDS Program Officer
Ex officio Federal Liaison
Amelie Gubitz is a program director in the Division of Extramural Research at the National Institute of Neurological Disorders and Stroke (NINDS). In this role, she oversees the NINDS investment in basic, translational and clinical research on amyotrophic lateral sclerosis, X-linked spinal and bulbar muscular atrophy and hereditary spastic paraplegias. Amelie received a Ph.D. in pharmacology from the University of Cambridge, UK, and then completed a Wellcome Trust Fellowship at Harvard Medical School in circadian biology. Subsequently, she worked as a senior scientist in the target discovery group for neuropathic pain at Parke Davis, UK. Prior to joining the NINDS, she was a research assistant professor at the University of Pennsylvania, where she studied the molecular pathogenesis of spinal muscular atrophy. She has served as a NINDS program director since 2010.
John E. Howell
ChairmanPrometheus Partners Holdings, LLC
John E. Howell chairs a boutique, national consulting firm based in northern Virginia. Howell and his firm consult privately on behalf of a number of corporations and individuals regarding investments in the health care, downstream energy, and public security and safety arenas. These efforts include substantive collaborations with a variety of U.S. agencies and partners on a global basis. Prior to his private-sector career, Howell served the U.S. public sector worldwide in both uniformed and civilian capacities, and is both Airborne and Ranger Qualified. A Fulbright Scholar and alumnus of Davidson College, Howell is an active member of a number of U.S.-based corporate and civic boards.
Louis M. Kunkel, Ph.D.
Chairman, MDA Scientific Advisory Committee
Professor of Pediatrics, Harvard Medical School/Boston Children’s Hospital
Dr. Kunkel is an internationally recognized geneticist and has years of experience and scientific success in the understanding of the molecular basis for the muscular dystrophies. He received a Bachelor of Arts from Gettysburg College and his Ph.D. from Johns Hopkins University. Over the past three decades Dr. Kunkel has devoted his career to understanding the molecular basis of, and developing therapy for, neuromuscular disorders. Dr. Kunkel is universally recognized for the identification of the gene and encoded protein, dystrophin, which is mutated in boys with Duchenne/Becker muscular dystrophy, in 1986-1987. Since then, members of his laboratory have been responsible for the identification and characterization of more than 15 dystrophin-related or dystrophin-associated genes and their protein products, and have discovered that mutations in three of these genes cause limb-girdle muscular dystrophy. The identification of dystrophin has led to improved diagnosis of the muscular dystrophies and rational approaches to therapy. Dr. Kunkel currently holds appointments as professor of pediatrics and genetics, Harvard Medical School, and director of the Boston Children's Hospital Molecular Genetics Core Laboratory. Dr. Kunkel has authored more than 230 journal articles and 20 book chapters. He has received numerous awards and honors for scientific leadership and achievement, including memberships in the National Academy of Sciences and American Academy of Arts and Sciences. Dr. Kunkel has been a member of the MDA Scientific Advisory Committee for 15 years, and currently serves as committee chair.
Elizabeth McNally, M.D., Ph.D.
Elizabeth R. Ward Chair and Director, Center for Genetic Medicine, Northwestern University
Dr. McNally is a professor of medicine and biochemistry, molecular biology and genetics at Northwestern University Feinberg School of Medicine where she directs the Center for Genetic Medicine. Dr. McNally is a cardiologist who specializes in caring for the cardiovascular complications of neuromuscular disease. Dr. McNally’s research has been to identify genes and the mechanisms by which genetic defects lead to heart and muscle disease. In her laboratory, her group has been working to uncover genetic pathways that modify the outcome of neuromuscular disease and its cardiac complications.
Dr. McNally received her undergraduate degree from Barnard College at Columbia University in New York, majoring in biology and philosophy. She was awarded M.D. and Ph.D. degrees from the Albert Einstein College of Medicine, where she participated in the NIH-sponsored Medical Scientist Training Program. Dr. McNally completed training in internal medicine and cardiovascular medicine at the Brigham and Women’s Hospital and Harvard Medical School. Her postdoctoral fellowship was at Children’s Hospital in Boston in the Division of Genetics and the Howard Hughes Medical Institute. In addition to her research, Dr. McNally is an active physician who established one of the very first cardiovascular genetics clinics in the nation. This clinic, now at Northwestern, provides counseling and cardiovascular care for those with inherited cardiovascular disorders. Dr. McNally is an advocate for research and patients through her work with the Muscular Dystrophy Association and Parent Project Muscular Dystrophy Foundation. She was president of the American Society for Clinical Investigation 2011-2012, and an active member of the Coalition for Life Science and the Federation of the American Societies for Experimental Biology (FASEB). She has been recognized as an Established Investigator of the American Heart Association and as a Distinguished Clinical Scientist by the Doris Duke Charitable Foundation.
Thomas A. Rando, M.D., Ph.D.
Professor of Neurology and Neurological Sciences, Stanford University
Dr. Rando is professor of neurology and neurological sciences and director of the Glenn Laboratories for the Biology of Aging at Stanford University School of Medicine. He is also chief of neurology at the Palo Alto VA Medical Center, where he is director of the Rehabilitation Research Development Center of Excellence which focuses on the emerging field of regenerative medicine and bioengineering. Research in the Rando laboratory concerns the basic biology of stem cells, how stem cells function in adult tissue homeostasis, and how their function is altered in degenerative diseases and during aging. Dr. Rando is a founding director of the Muscular Dystrophy Association Clinic at Stanford, and his research has focused on the pathogenesis and treatment, including stem cell therapeutics, for the muscular dystrophies. He has served on numerous scientific advisory boards for national and international non-profit foundations and organizations, as well as for corporations including Asklepios Biopharmaceutical, Fate Therapeutics, and currently Alkahest. Dr. Rando has received numerous awards, including a Senior Scholar Award from the Ellison Medical Foundation and a “Breakthroughs in Gerontology” Award from the American Federation for Aging Research. In 2005 he received the prestigious NIH Director’s Pioneer Award for his work on the biology of muscle stem cells for both basic and translational studies. He also recently received a Transformative Research Award from the NIH for studies of the mechanisms of the role physical activity in mediating the beneficial effects of exercise on tissue health via muscle-secreted proteins acting on stem cells throughout the body.
Jeffrey D. Rothstein, M.D., Ph.D.
Professor of Neurology and Neuroscience
Director, Robert Packard Center for ALS Research
Co-Director, Brain Science Institute (BSi)
Director, BSi Neurotranslation Program
Johns Hopkins School of Medicine
Dr. Rothstein is director of the Johns Hopkins Brain Science Institute and professor of neurology and neuroscience at Johns Hopkins University. He is the founder and director of the Robert Packard Center for ALS Research at Johns Hopkins, the largest academic organization dedicated toward understanding ALS and developing novel therapeutics. The Brain Science Institute’s Neurotranslation Program is focused on developing new small molecule pharmaceuticals for brain and spinal cord diseases. He also is the director of the MDA/ALS Clinic at Johns Hopkins University, one of the largest ALS clinics in the US. He is an executive scientific director of the Northeast ALS Consortium (NEALS), the largest ALS clinical consortium organized to carry out nationwide clinical trials in ALS and clinical research.
He received a bachelor’s degree from Colgate University and started his graduate neuroscience training at the University of Chicago. He completed his doctoral studies and medical degree at the University of Illinois. After a medical internship (University of North Carolina, Chapel Hill), he trained in neurology at Johns Hopkins. Following his neurology training and fellowship in neuromuscular disease, he stayed on as a faculty member.
His basic science laboratory conducts research into the causes of ALS and potential pathways toward therapies. He has published more than 200 peer-reviewed articles on basic neuroscience, drug discovery, clinical pathophysiology, mechanisms of disease (including ALS), spinocerebellar ataxia and epilepsy. Dr. Rothstein’s lab research provided the fundamental work leading to the successful use and FDA approval of riluzole in ALS. In addition, his lab research has identified and led to clinical trials of six novel ALS therapeutics. Most recently, his lab developed the preclinical program identifying ceftriaxone as a potential therapeutic for ALS, depression and other neurological injuries.
Lee Wrubel, M.D.
Foundation Medical Partners
Dr. Wrubel brings more than two decades of venture capital experience to his role at Foundation Medical Partners and has a passion for healthcare technology companies. Prior to co-founding FMP in 2001, Lee served as an investment professional with Highland Capital Partners and Canaan Partners where he worked closely with the management of a large number of private companies. He began his business career as a consultant at The Wilkerson Group, a healthcare-focused management consulting company.He is an Executive in Residence at Columbia University, and a member of the Advisory Board of the Eugene Lang Center for Entrepreneurship at Columbia Business School. Lee is also and Advisor to General Assembly, a worldwide institution that provides students with hands-on education covering the latest practices in technology, business, and design. He is also a founder of the Coalition to Cure Calpain 3, a non-profit research organization founded to fund research into a rare form of muscular dystrophy. Lee earned an A.B. from Lafayette College, an M.D. and Masters in Public Health from Tufts University, and an M.B.A. from Columbia University. Lee also completed a pediatric internship at Mount Sinai Medical Center in New York.
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- What We've Achieved
- Creating a New Therapy
- Newborn Screening for Neuromuscular Diseases
- Cost of Illness of Neuromuscular Diseases in the US
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