MVP Advisory Committee

Stanley H. Appel, M.D.
Director, Methodist Neurological Institute
Edwards Distinguished Endowed Chair for ALS Chair, Department of Neurology, 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. Dr. Appel serves as the director of the Methodist Neurological Institute, and he’s a professor of neurology at Weill Cornell Medical College.  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 in Durham, N.C. 

Dr. Appel is a native of Massachusetts and 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 Research and Clinical Center at the 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). More specifically, he is studying the importance of immune/inflammatory alterations, as well as increased intracellular calcium and free radical stress in ALS, Parkinson’s disease (PD) and Alzheimer’s disease. In ALS, his laboratory was first to develop an immune-mediated animal model of motor neuron disease, and then to document the presence of neuroinflammatory markers, including elevated immunoglobulins, activated microglia, and T cell lymphocytes in both the animal model and human sporadic ALS. His laboratory has continued to develop 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. Therapeutic efforts in animal models and in human ALS are also focused on modifying the neuroinflammatory responses by increasing regulatory T cell populations.

Dr. Appel is a member of numerous professional societies and committees, and is the author of 15 published books and more than 350 articles on topics such as ALS, neuromuscular disease, Alzheimer’s disease and Parkinson’s disease. He has received a number of awards for his accomplishments in neurology and biochemistry, including:

• Gold Medal Award (1997) from Columbia College of Physicians and Surgeons for “Distinguished Achievements in Medicine”;
• Sheila Essey Award (2003) from the American Academy of Neurology for “outstanding research in amyotrophic lateral sclerosis”;
• elected Fellow of the American Association for the Advancement of Science in recognition of the “dedication and commitment to advancing science and serving society” (2003);
• Baylor College of Medicine Alumni Association Distinguished Faculty Award 2004);
• MDA’s Wings Over Wall Street Diamond Award (2004);
• Texas Neurological Society Lifetime Achievement Award (2005);
• Forbes Norris Award for “compassion and love for humanity in research and treatment in patients with ALS” from the International Alliance of ALS/MND Associations (2005);
• Museum District Business Alliance Award in recognition of his commitment to research, patient care and education (2007);
• Houston Academy of Medicine 2008 John P. McGovern Compleat Physician Award;
• 2008 Best of the Best Physicians by the Medical Journal Houston; and
• 2009 Naturalization Ceremony keynote speaker in Houston.

Cristina Csimma, PharmD, M.H.P.
Independent Consultant

Cristina Csimma has extensive experience in the pharmaceutical and health care industry, with particular focus in drug development. She served as vice president for drug development for Virdante Pharmaceuticals Inc., until May 2011. Previously, she was a principal at Clarus Ventures LLC, a life sciences venture capital firm. Prior to Clarus Ventures, Dr. Csimma had senior roles in CR&D and Translational Research at Wyeth Research and the Genetics Institute. Her extensive drug development experience encompasses global development in multiple therapeutic areas, including neuromuscular disease, exploratory through registration clinical studies, and integration of biomarkers and novel technologies into clinical development.

Before joining the biopharmaceutical industry, she was a clinical pharmacist at the Dana Farber Cancer Institute. She is the chair of the TREAT-NMD Advisory Committee for Therapeutics (TACT); a member of the MDA Venture Philanthropy Scientific Advisory Board; and serves on the board of directors of Columbia Labs Inc. 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
Neurogenetics Branch
Porter Neuroscience Research Center
National Institutes of Neurological Disorders and Stroke

Kenneth H. Fischbeck, M.D., 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 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.

John E. Howell
Chairman
Prometheus 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. 

John T. Kissel, M.D.
Director, Division of Neuromuscular Medicine
Professor of Neurology
Associate Professor of Pediatrics
Co-Director, Neurology Infusion Suite
Prometheus Partners Holdings LLC

Dr. John T. Kissel is professor of neurology and pediatrics and director of the Division of Neuromuscular Medicine at Ohio State University in Columbus, Ohio, where he serves as director of the MDA clinic, the MDA/ALS clinic, and the spinal muscular atrophy clinic. He graduated from Northwestern University Medical School in 1978, followed by a year of internal medicine residency at Ohio State University. He did his neurology training at Washington University in St. Louis, Mo., followed by one year of a clinical neuromuscular fellowship and two years of a neuroimmunology research fellowship at Ohio State. He has been on the staff at Ohio State University since 1985.

He has published extensively in a wide range of peripheral nerve, muscle and anterior horn cell disorders. His current research interests have focused on clinical trials in spinal muscular atrophy and other neuromuscular disorders. He is the co-author of a popular textbook of peripheral nerve disease called Diagnosis and Management of Peripheral Nerve Disorders, and has written chapters for many of the standard neuromuscular textbooks.

Dr. Kissel is the immediate past president of the American Academy of Neurology’s Neuromuscular Section, and he’s a current member of the AAN’s Science Committee. He is a fellow in the American Academy of Neurology, and a member of the American Neurological Association. He serves on the Medical Advisory Board for the Families of SMA and the International Coordinating Committee for SMA.

Louis M. Kunkel, Ph.D.
Chairman, MDA Scientific Advisory Committee
Associate Director, Professor of Pediatrics, Harvard Medical School/Children's Hospital

Dr. Kunkel is an internationally recognized geneticist and has years of experience and scientific success in the understanding of the basis for muscular dystrophies, autism spectrum disorders and interstitial cystitis. 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, 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. This was accomplished using an approach, which was novel at the time, based on the chromosomal map position of the gene. 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 director of the Program in Genomics at Children's Hospital Boston; professor of pediatrics and genetics, Harvard Medical School, Boston; and investigator at the Howard Hughes Medical Institute. Dr. Kunkel has authored more than 200 journal articles and 20 book chapters. He has received 22 awards and honors for scientific leadership and achievement, including:

• memberships in the National Academy of Sciences and American Academy of Arts and Sciences;
• The Gairdner Foundation International Award (1989);
• Silvio O. Conte Decade of Brain Award (1991);
• Muscular Dystrophy Association's S. Mouchly Small Scientific Achievement Award (1999); and
• William Allan Award for distinguished service in human genetics (2004).

Dr. Kunkel has been a member of the MDA Scientific Advisory Committee for 15 years, and currently serves as committee chairman.

Elizabeth McNally, M.D., Ph.D.
Professor of Medicine and Human Genetics
Director, Institute for Cardiovascular Research
Director, Cardiovascular Genetics Clinic
University of Chicago Medical Center

Elizabeth McNally is a professor of medicine and human genetics at the University of Chicago, where she directs the University of Chicago Institute for Cardiovascular Research. Dr. McNally investigates the genes that cause inherited cardiovascular and neuromuscular diseases, specifically the cardiomyopathies and muscular dystrophies. By establishing animal models of these human disorders, the McNally laboratory has uncovered the molecular requirements for plasma membrane stability, and the interaction with the extracellular matrix as well as nuclear defects. Her interest in degenerative disorders that affect cardiac and skeletal muscle also has led to studies in regenerative medicine to improve heart and muscle function. 

John D. Porter, Ph.D.
Program Director
Neurogenetics Cluster and Office of Translational Research
National Institute of Neurological Disorders and Stroke, National Institutes of Health

John Porter is program director for neuromuscular disease at the National Institute for Neurological Disorders and Stroke (NINDS). He manages a portfolio of research grants that focuses on diseases affecting the motoneuron (spinal muscular atrophy), neuromuscular junction (inherited and acquired myasthenia gravis and slow-channel syndrome), and skeletal muscle (congenital, Duchenne, Becker, Emery-Dreifuss, facioscapulohumeral, limb girdle, myotonic and oculopharyngeal muscular dystrophies). 

He currently is the executive secretary for the interagency Muscular Dystrophy Coordinating Committee. Dr. Porter also serves on advisory boards for the following: Duchenne Muscular Dystrophy Research Program at the Department of Defense; Translational Research in Europe — Assessment and Treatment of Neuromuscular Diseases (TREAT-NMD); MRC Centre for Neuromuscular Diseases; Muscular Dystrophy Association (MDA) Venture Philanthropy Scientific Development Advisory Board; Cure CMD; and the Families of SMA Translational Advisory Committee. 

Dr. Porter received his undergraduate degree in biology from the College of William and Mary, and his Ph.D. in anatomy from the Medical College of Virginia. He completed his postdoctoral training in systems neurophysiology at the University of Alabama, Birmingham. Prior to joining the NIH, Dr. Porter was professor of neurology at Case Western Reserve University. His 20-plus-year academic research career has focused upon extraocular muscle biology in health and disease, including the mechanisms responsible for its novel responses to a variety of neuromuscular disorders.

Jeffery 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 and a faculty member of the Graduate Training Program in Cellular and Molecular Medicine 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 the largest and most active program at Johns Hopkins that’s organized and staffed to develop new small molecule pharmaceuticals for brain and spinal cord diseases. He also is the director of the MDA/ALS Clinic at Johns Hopkins University. Dr. Rothstein oversees one of the largest ALS clinics in the United States.

He received a bachelor’s degree from Colgate University and started his graduate neuroscience training at the University of Chicago (M.A., 1979). He completed his doctoral studies in biophysics and physiology (1984) and medical degrees (1985) 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.

In 2000, Dr. Rothstein organized the Robert Packard Center for ALS Research at Johns Hopkins, where he serves as director. This is the first multi-institutional, multinational collaborative academic organization devoted toward understanding the cause of ALS, and translating the information into new drug and cell-based therapies.

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.

1. identification of novel drug or peptide therapeutics to delay or prevent motor neuron degeneration in ALS through the use of cell culture and transgenic models of ALS;
2. use of neuronal and non-neuronal stem cell therapies to treat motor neuron diseases, including ALS;
3. models of motor axon regeneration/regrowth;
4. identification drugs and non-chemical means to modulate astroglia and oligodendroglia as therapeutics;
5. the cloning and characterization of novel proteins that may be responsible for the cellular regulation of all glutamate transporter subtypes;
6. development of novel astroglial biomarkers and PET imaging ligands for ALS; and
7. clinical trials of novel therapeutics in ALS.  

More recently his lab has developed a program to identify gliogenic small molecules to create glial stem cells in vivo, thereby avoiding impractical surgical approaches to stem cell therapy.

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 indentifying ceftriaxone as a potential therapeutic for ALS, depression and other neurological injuries.

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. 

Charles Thornton, M.D.
Professor of Neurology
Neurogenetic Disorders, School of Medicine & Dentistry
University of Rochester (N.Y.)

Dr. Thornton is professor of neurology at the University of Rochester. He, along with Dr. Richard Moxley, is a co-director of the MDA Clinic at the University of Rochester Medical Center. He received his bachelor’s and medical degrees from the University of Iowa. His internship in internal medicine was carried out in the UCLA/SFV Program. He finished his residency in neurology in 1985 at Oregon Health Sciences University and a fellowship in neuromuscular disease at Strong Memorial Hospital in Rochester in experimental therapeutics. He has received a number of grants for DM (myotonic dystrophy) research and has published numerous results in professional journals. He is now beginning to focus on the treatment phase of research for myotonic dystrophy. For further information on Dr. Thornton, visit the URMC website.

Lee Wrubel, M.D.
General Partner
Foundation Medical Partners

Dr. Wrubel has 15 years of experience in venture capital and has been associated with a large number of private companies, including such now publicly traded companies as Pozen Pharmaceuticals, OraPharma and Atricure. Prior to starting Foundation Medical Partners, Dr. Wrubel was an investment professional with Canaan Partners and more recently Highland Capital Partners, where he specialized in biotechnology and medical device investments. Dr. Wrubel serves on the board of directors of EndoGastric Solutions Inc., CardioMEMS Inc., IlluminOss and Circulite Inc.

Dr. Wrubel began his business career as a consultant at The Wilkerson Group, a health-care-focused management consulting company. Dr. Wrubel completed a pediatric internship at Mount Sinai Medical Center in New York. He holds an A.B. from Lafayette College; an M.D. and master’s degree in public health from Tufts University; and an M.B.A. from Columbia University.