Medical Experts in Advisors Board
William Harr DNP, CRNA
William Harr DNP, CRNA graduated from the University of Cincinnati in December 2001 with a Master of Nursing degree in Anesthesia and became a Board-Certified Registered Nurse Anesthetist in February of 2002.
Dr. Harr has spent most of his career serving the rural communities of western Ohio. In 2021, Dr. Harr completed the Doctor of Nursing Practice at Lourdes University where he has dedicated his time and research to anesthesia safety for patients who have Periodic Paralysis.
In recognition for his research, Dr. Harr received the Lourdes University College of Nursing Practice Leadership award and was one of the featured speakers for the Periodic Paralysis Conference in 2021.
Steve Cannon M.D.
Research Emphasis: Ion channel biophysics, Neuromuscular disorders, and Mathematical Modeling
Dr. Cannon received his M.D. in 1986 from Johns Hopkins and his Ph.D. in Biomedical Engineering in 1986 from Johns Hopkins. Among other professional commitments, Dr. Cannon is an Associate Neurologist, Massachusetts General Hospital, Attending Physician, Neurology Associates, Massachusetts General Hospital, and Associate Professor of Neurobiology, Harvard Medical School.
Dr. Cannon is a recognized authority on channelopathies and neuromuscular disorders. His contributions to this and related fields include numerous articles, and book chapters, and a commitment to education, clinical practice, and research. Dr. Cannon serves on the Editorial Board of a number of professional journals including Neuron, Cell, Biophysical Journal, Journal of Physiology, Journal of General Physiology, and Journal of Neuroscience.
William Harr DNP, CRNA
William Harr DNP, CRNA graduated from the University of Cincinnati in December 2001 with a Master of Nursing degree in Anesthesia and became a Board-Certified Registered Nurse Anesthetist in February of 2002.
Dr. Harr has spent most of his career serving the rural communities of western Ohio. In 2021, Dr. Harr completed the Doctor of Nursing Practice at Lourdes University where he has dedicated his time and research to anesthesia safety for patients who have Periodic Paralysis.
In recognition for his research, Dr. Harr received the Lourdes University College of Nursing Practice Leadership award and was one of the featured speakers for the Periodic Paralysis Conference in 2021.
Steve Cannon M.D.
Research Emphasis: Ion channel biophysics, Neuromuscular disorders, and Mathematical Modeling
Dr. Cannon received his M.D. in 1986 from Johns Hopkins and his Ph.D. in Biomedical Engineering in 1986 from Johns Hopkins. Among other professional commitments, Dr. Cannon is an Associate Neurologist, Massachusetts General Hospital, Attending Physician, Neurology Associates, Massachusetts General Hospital, and Associate Professor of Neurobiology, Harvard Medical School.
Dr. Cannon is a recognized authority on channelopathies and neuromuscular disorders. His contributions to this and related fields include numerous articles, and book chapters, and a commitment to education, clinical practice, and research. Dr. Cannon serves on the Editorial Board of a number of professional journals including Neuron, Cell, Biophysical Journal, Journal of Physiology, Journal of General Physiology, and Journal of Neuroscience.
James Cleland M.D.
Research Emphasis: Consultant Neurologist and Neurophysiologist
Auckland City Hospital, Auckland NZ and Waikato Neurology Group, Cambridge, NZ
James received his specialist neuromuscular training in Rochester, NY where he developed an interest in muscle channelopathies. He was a co-investigator on CINCH projects and received AANEM and MDA funding for investigation of possible periodic paralysis, and for a trial of acetazolamide and potassium in Andersen-Tawil syndrome. Since moving his family back to NZ in 2006, he has continued this interest in collaboration with the CINCH group.
His particular interest is in the development of new diagnostic techniques in muscle channelopathies, such as muscle fiber conduction velocity, exercise testing, and assessment of muscle excitability parameters. He is also developing an interest in the electrophysiology peripheral nerve hyperexcitability and axonal excitability studies.
Stephen Fraser Lewis M.D.
Research Emphasis: Adult Neurology and Electrodiagnostics
After attending Davidson College and graduating with a BS in Biology, Dr. Lewis spent 6 years doing basic Neuroscience Research (at Weill Medical School of Cornell University and Wake Forest University Medical School). He then attended medical school at Wake Forest University, interned at Abington Memorial Hospital (Abington, PA), and was a Resident in Neurology at Thomas Jefferson University Hospital (Philadelphia, PA). After completing his residency he entered private practice in general adult Neurology (he is board-certified by the American Board of Psychiatry and Neurology). Dr. Lewis is currently self-employed in solo practice with offices in Willow Grove, PA; and is on staff at Abington Memorial Hospital.
Dr. Lewis has always been interested in “the unusual neurological diseases and became specifically interested in the Periodic Paralyses when he made the diagnosis in a friend-patient who had been “passed around the Philadelphia medical community. She and Dr. Lewis worked together to discern a treatment regimen that works for her. He believes that disease management is best when directed in a controlled setting with a frank open discussion in a partnership between patient and physician. Clinical management of few (if any) Neurological conditions can be cook-booked each person is different and needs to be treated uniquely.
Address: 2300 Computer Avenue, Executive Mews Suite H-43, Willow Grove, PA 19090
Berstrand Fontaine M.D.
Professor of Neurology – University Pierre et Marie Curie, France
Coordinator of the French national reference center for neuromuscular channelopathies.
The leader of a research team on muscle excitability disorders.
Robert C. Griggs M.D.
Professor of Neurology, Medicine, Pediatrics, and Pathology and Laboratory Medicine
University of Rochester School of Medicine and Dentistry
Former Editor-in-Chief, Neurology, the official journal of the American Academy of Neurology
Past President, American Academy of Neurology (2009-2010)
Address: 1351 Mt. Hope Avenue, Suite 203 Rochester, New York 14620
Michael Hanna M.D.
Professor Michael Hanna is a Consultant Neurologist at the National Hospital for Neurology and Neurosurgery Queen Square and is also Director of the UCL Institute of Neurology. The Institute of Neurology is the largest dedicated neurological research institute in Europe employing over 600 scientists and publishing over 1200 peer-reviewed scientific articles in 2013-14, with an annual research grant income in excess of 70m pounds. As part of UCL Neuroscience, the Institute is second only to Havard, in the world for bibliometric neuroscience citations and also leads major education and training programs with over 400 Ph.D. and MSc students.
Professor Hanna is leading a major program to provide a world-class 25,000m environment in a new dedicated neuroscience building. The Institute has a major focus on discovering neuroscience and translating this into patient experimental trials for major neurological diseases including Dementia, neurodegenerative diseases, epilepsy, stroke, multiple sclerosis, and neuromuscular diseases. There is a current major focus on developing better diagnostics and therapies for dementia with a recent award from the Wolfson Foundation of 20m pounds to develop a neurodegenerative disease experimental trials center at Queen Square.
Professor Hanna is also Director of the MRC Centre for translational research in neuromuscular disease which was established in 2008 and renewed in 2013 with total funding now exceeding 10m pound for translational research into neuromuscular diseases. He has published over 200 peer-reviewed original research papers including New England Journal of Medicine, JAMA and Lancet. Professor Hanna has held other major leadership roles; eg from 2007-2012 he was Director of the Queen Square Division of UCLH NHS Trust leading a team overseeing 1000 clinical staff, treating over 140,000 patients per annum with an annual clinical budget of 150m pound. Professor Hanna has a major research interest in muscle channelopathies and leads the UK NHS national diagnostic and advisory service for patients.
Nivedita Jerath M.D., M.S.
Nivedita Jerath, MD, MS, is a board-certified neurologist with outstanding credentials and a special interest in helping patients with hereditary motor and sensory neuropathies.
Growing up in Augusta, Georgia, she was a nationally ranked tennis player who decided to follow in her mother’s footsteps and become a neurologist. A proud graduate of Harvard University where she was an award-winning student and athlete, she earned her medical degree at the Mayo Clinic College of Medicine and returned to Harvard for her neurology residency. She next followed her husband to Iowa City, where she completed consecutive fellowships in neurophysiology and neuromuscular diseases and earned a master’s degree in translational biomedicine at the University of Iowa.
Before moving to Central Florida to serve as a neuromuscular division director, Dr. Jerath served as Director of the Charcot Marie Tooth Association Center of Excellence and as a clinical assistant professor at the University of Florida.
Louis Ptacek M.D.
“A major focus of my research is heritable disorders of the nervous system, particularly disorders of membrane excitability.”
Dr. Ptacek is a Howard Hughes Medical Institute Investigator and Distinguished Professor of Neurology at the University of California, San Francisco (UCSF), and a member of the faculty of the UCSF Neuroscience, Biomedical Science, and Tetrad Graduate Programs.
Dr. Ptacek received his B.S. degree in mathematics and his M.D. degree from the University of Wisconsin-Madison. He completed residency training in neurology at the University of Utah, where his postdoctoral studies were carried out in Ray White’s laboratory. He was a former Culpeper medical scholar. He is a fellow of the Institute of Medicine at the National Academies of Science, a fellow of the American Academy of Arts and Sciences, and a member of the NINDS Council at NIH.
Howard Hughes Medical Institute
University of California San Francisco
Department of Neurology Box 2922
19B Mission Bay, Room 548F
1550 4th Street
San Francisco, CA 94143-2922
Tele: (415)-502-5614
Fax: (415)-502-5641
Email: ptacek@itsa.ucsf.edu or ljp@ucsf.edu
Michael Segal M.D.
Dr. Segal is a pediatric neurologist who did research on sodium channels in epilepsy while he was in the faculty of Harvard Medical School. Since 2002 he has been at SimulConsult, a company he founded that produces software to assist in making medical diagnoses. In 2007, together with his colleagues from Harvard, he described a form of attention deficit disorder that resembles hypokalemic periodic paralysis.
Dr. Segal got his Ph.D. and MD degrees in 1982 and 1983 from Columbia University. After a pediatric internship at St. Louis Children’s Hospital, he returned to New York to do a pediatric neurology residency at Columbia Presbyterian Hospital from 1984-87. Before joining the faculty at Harvard Medical School he did a fellowship in Harvard’s Neurobiology Department, winning the S. Weir Mitchell young investigator award of the American Academy of Neurology in 1990 for the epilepsy research he did there.
Rabi Tawil Ph.D., FACMG
Professor of Neurology
Co-Director, Neuromuscular Disease Clinic
Director, Neuromuscular Pathology Laboratory
Director, Fields Center for FSHD and Neuromuscular Research
University of Rochester
School of Medicine and Dentistry
As a clinical researcher, Dr. Tawil’s focus on the clinical manifestations and treatment of the periodic paralyses. His research led to the recognition of the Andersen-Tawil Syndrome (ATS) as a distinct form of periodic paralysis. He was also been a co-principal investigator in the study of dichlorphenamide (Daranide) in periodic paralysis. Currently, he is collaborating with Dr. Griggs on and ATS study within the CINCH channelopathy project as well as on the second controlled trial in periodic paralysis comparing the effects of dichlorphenamide and acetazolamide (Diamox).
Dr. Tawil’s other research interest is understanding the disease mechanisms underlying Facioscapulohumeral muscular dystrophy (FSHD), a dominant form of muscular dystrophy.
Contact: University of Rochester, School of Medicine and Dentistry, 601 Elmwood Ave, Box 673, Rochester, NY 14642
Sub Subramony M.D.
Dr. S. H. Subramony was trained in Neurology and Electromyography/ Neuromuscular diseases at the Cleveland Clinic, Cleveland, OH. Subsequent to that, he was on the faculty at the University of Mississippi Medical Center (1980 to 2007), where he was named the Billy Guyton Distinguished Professor of Neurology. Later, at the University of Texas Medical Branch in Galveston where he was appointed the Charlotte Warmoth Professor of Neurology (2007 to 2009 ), before coming to the University of Florida in 2009. He has directed the adult Muscular Dystrophy clinics and the Ataxia Clinic at UF since then.
Over the last 25 years, he has had an investigative interest in genetically determined neuromuscular disorders and hereditary ataxias. He was an active participant in many gene identification studies in these disorders and more recently has been focused on translational research to bring innovative therapies to these disorders. He has active collaborations with the Powell Gene Therapy Center and the Center for Neurogenetics at UF allowing for the bench to bedside translation. He is an active member of national study groups in Friedreich Ataxia, myotonic muscular dystrophy, and spinocerebellar ataxias and site investigator for federally funded clinical research studies in all these disorders. In addition, he is the site investigator for many industry-funded clinical trials in these diseases. Dr. Subramony is considered one of the world-leading experts in these fields.
His clinical experience includes the management of patients with all types of neuromuscular diseases including ALS, myasthenia gravis, polymyositis, neuropathies and muscular dystrophies. Currently, he focuses on genetic neuromuscular diseases and ataxias and offers treatment that includes electromyography, muscle biopsy when appropriate, appropriate genetic testing and referral to ancillary services such as physical, occupational and speech therapy and evaluation for mobility aids.
Call Dr. Sub Subramony on phone number (352) 273-55
Bas Stunnenberg M.D.
Research Emphasis: Clinical, genetic and electrophysiological studies in neurological ion channelopathies such as non-dystrophic myotonia and periodic paralysis, a familial hemiplegic migraine, and genetic epilepsy syndromes. Use of combined single patient (N-of-1) trials in muscle channelopathies to personalize treatment at the patient level and simultaneously create an evidence base for the effectiveness of drugs at the group level.
Dr. Stunnenberg received his master's in Medical Biology (Neurobiology) from the Radboud University, Nijmegen, the Netherlands in 2009 and his master of Medicine (M.D.) from the University of Utrecht in 2011. In 2012, Dr. Stunnenberg started his Residency in Neurology at the Department of Neurology from the Radboud University Medical Center, Nijmegen, the Netherland. In this same year, he also started his work on his PhD-thesis entitled “Personalized treatment in skeletal muscle channelopathies using N-of-1 trials”.
Dr. Stunnenberg serves as a medical advisor for the Dutch Muscle Society and serves as an ad-hoc reviewer for a number of professional scientific journals including Muscle and Nerve and Neuromuscular Disorders.
Sub Subramony M.D.
Dr. S. H. Subramony was trained in Neurology and Electromyography/ Neuromuscular diseases at the Cleveland Clinic, Cleveland, OH. Subsequent to that, he was on the faculty at the University of Mississippi Medical Center (1980 to 2007), where he was named the Billy Guyton Distinguished Professor of Neurology. Later, at the University of Texas Medical Branch in Galveston where he was appointed the Charlotte Warmoth Professor of Neurology (2007 to 2009 ), before coming to the University of Florida in 2009. He has directed the adult Muscular Dystrophy clinics and the Ataxia Clinic at UF since then.
Over the last 25 years, he has had an investigative interest in genetically determined neuromuscular disorders and hereditary ataxias. He was an active participant in many gene identification studies in these disorders and more recently has been focused on translational research to bring innovative therapies to these disorders. He has active collaborations with the Powell Gene Therapy Center and the Center for Neurogenetics at UF allowing for the bench to bedside translation. He is an active member of national study groups in Friedreich Ataxia, myotonic muscular dystrophy, and spinocerebellar ataxias and site investigator for federally funded clinical research studies in all these disorders. In addition, he is the site investigator for many industry-funded clinical trials in these diseases. Dr. Subramony is considered one of the world-leading experts in these fields.
His clinical experience includes the management of patients with all types of neuromuscular diseases including ALS, myasthenia gravis, polymyositis, neuropathies and muscular dystrophies. Currently, he focuses on genetic neuromuscular diseases and ataxias and offers treatment that includes electromyography, muscle biopsy when appropriate, appropriate genetic testing and referral to ancillary services such as physical, occupational and speech therapy and evaluation for mobility aids.
Call Dr. Sub Subramony on phone number (352) 273-55
Jack Tarletong Ph.D., FACMG
Director, Fullerton Genetics Laboratory
Dr. Tarleton directs the overall operations of the Fullerton Genetics Center Laboratory and serves as director of the molecular genetics lab section. He has served as a lab director for over 20 years and witnessed the explosive growth of genetic information during that time. As specific genes related to genetic disorders were identified, Dr. Tarleton was drawn to work to understand the molecular details of how genes function. He lives in Asheville with his wife and two sons and enjoys coaching high school track athletes in his spare time.
Graduate School: Ph.D., Molecular and Cellular Biology, University of South Carolina – 1989
Postdoctoral Fellowships:
Greenwood Genetic Center – Molecular Genetics
Board Certifications:
American Board of Medical Genetics in Clinical Molecular Genetics
Professional Societies, Research Advisory Boards
President, North Carolina Medical Genetics Association 2009
American College of Medical Genetics, founding fellow 1991
American Society of Human Genetics
American Association for Advancement of Science
Sigma Xi Scientific Research Society
Carolina Birth Defects Research Project, University of North Carolina-CH
Fragile X Syndrome Screening Advisory Panel, Greenwood Genetic Center
Genetics in Nursing Program, University of South Carolina-Upstate
Hemochromatosis Education and Screening Project, University of North Carolina-CH
Carolina Fragile X Project, University of North Carolina-CH
Research & Medical Interests
Fragile X syndrome and other developmental disorders affecting neural transmission
Genetic and physiological pathology in myotonia congenita and Duchenne muscular dystrophy
Rabi Tawil Ph.D., FACMG
Professor of Neurology
Co-Director, Neuromuscular Disease Clinic
Director, Neuromuscular Pathology Laboratory
Director, Fields Center for FSHD and Neuromuscular Research
University of Rochester
School of Medicine and Dentistry
As a clinical researcher, Dr. Tawil’s focus on the clinical manifestations and treatment of the periodic paralyses. His research led to the recognition of the Andersen-Tawil Syndrome (ATS) as a distinct form of periodic paralysis. He was also been a co-principal investigator in the study of dichlorphenamide (Daranide) in periodic paralysis. Currently, he is collaborating with Dr. Griggs on and ATS study within the CINCH channelopathy project as well as on the second controlled trial in periodic paralysis comparing the effects of dichlorphenamide and acetazolamide (Diamox).
Dr. Tawil’s other research interest is understanding the disease mechanisms underlying Facioscapulohumeral muscular dystrophy (FSHD), a dominant form of muscular dystrophy.
Contact: University of Rochester, School of Medicine and Dentistry, 601 Elmwood Ave, Box 673, Rochester, NY 14642
Frank Weber Ph.D., FACMG
Frank Weber is a clinical neurologist and is currently head of the Department of Neurology and Clinical Neurophysiology at the Military Hospital in Ulm (Germany). As a military physician, he is a certified flight surgeon.
He has been trained in clinical neurology at the University of Ulm and at the Technical University in Munich, where he met Frank Lehmann-Horn.
He has a special interest in neuromuscular disorders and in clinical neurophysiology.
His scientific interests lie in disorders of nerve and muscle and in channelopathies of the peripheral nervous system and of the muscular system, particularly on sodium channels.
Jaya Trivedi M.D.
Jaya Trivedi, M.D., is Professor & Medical Director of Ambulatory Neurology of the Department of Neurology at UT Southwestern Medical Center. She also serves as Program Director of the Neuromuscular Medicine fellowship. She specializes in neuromuscular disorders and is considered an expert in skeletal muscle channelopathies.
Dr. Trivedi earned her medical degree at Smt. N.H.L. Municipal Medical College in India. She completed internal medicine residencies at Sheth K.M. School of P.G. Medicine & Research in India and at Overlook Hospital in New Jersey before joining UT Southwestern, where she completed a residency in neurology and a fellowship in neuromuscular medicine.
She is certified in Neurology by the American Board of Psychiatry and Neurology and has subspecialty certification in Neuromuscular Medicine and Clinical Neurophysiology.
Her clinical interests include skeletal muscle channelopathies, amyotrophic lateral sclerosis, myasthenia gravis, neuropathies, myopathies, and myasthenia gravis. She has been involved in several clinical trials and was site PI for some of the landmark trials in non-dystrophic myotonia and periodic paralysis. She serves as co-PI of the NIH-funded Wellstone Training Core grant, the goal of which is to recruit, train, and maintain the next generation of transformative investigators focused on addressing the challenges of muscular dystrophy.
She has authored and co-authored publications, reviews, and book chapters. Some of her notable publications include the natural history study in non-dystrophic myotonia and the role of denture cream in neurological disease. The denture cream study garnered significant national attention leading to an interview by NBC which was aired on “Good Morning America”.
She has mentored numerous residents and fellows at UT Southwestern Medical Center, many of whom have pursued academic careers. She has twice been honored with the prestigious Trephined Cranium Neurology Resident Teaching award. Besides teaching residents and fellows, she organizes and directs annual CME conferences such as the Brain Summit and Carrell-Krusen Neuromuscular symposium for the local and national neurology community, respectively.
Dr. Trivedi also serves as a member of the Medical Economics and Practice Committee for the American Academy of Neurology and on the medical advisory board for the Periodic Paralysis Association. She is a Fellow of the American Academy of Neurology and the American Neurological Association.