Tetsuo Ashizawa, M.D.
Dr. Ashizawa is director of neuroscience research at the Houston Methodist Neurological Institute. He is studying neurogenetic disorders caused by expansions of DNA sequences that are connected end-to-end and abnormally repeated, such as myotonic dystrophies, spinocerebellar ataxias, Friedreich’s ataxia, and Huntington’s disease.
Guillaume Bassez, M.D., Ph.D.
Dr. Bassez is a neurologist and head of the Translational Myotonic Dystrophy Research Group at the Institut de Myologie in Paris. He established and coordinates the French national myotonic dystrophies registry, currently the largest DM-focused database with more than 2,300 patients from a network of 51 adult and pediatric neuromuscular centers.
C. Frank Bennett, Ph.D.
Dr. Bennett is the senior vice president of research at Ionis Pharmaceuticals, and has been in the role since 2006. Dr. Bennett is one of the founding members of Ionis, and he is responsible for preclinical antisense drug discovery and antisense technology research. Dr. Bennett is also the franchise leader for the Neurological Programs at Ionis.
Andy Berglund, Ph.D.
Dr. Berglund is a member of the faculty in the Department of Biochemistry & Molecular Biology at the University of Florida. His research focuses on the mechanisms through which RNA binding proteins recognize RNA motifs in pre-mRNA splicing, and he hopes to use his study results to reduce or correct the improper pre-mRNA splicing that occurs in DM.
David Brook, Ph.D.
Dr. Brook is a professor of human molecular genetics at the University of Nottingham. He was instrumental in isolating the gene that causes myotonic dystrophy.
John Cleary, Ph.D.
Dr. Cleary is currently working at the University of Florida, pursuing his interests in the pathogenesis of complex human disorders, such as myotonic dystrophy, as a postdoctoral associate in the Ranum Lab.
Thomas Cooper, M.D.
Dr. Cooper is a professor of neurology at Baylor College of Medicine. Myotonic dystrophy, particularly the type 1 form, has been an abiding interest for Dr. Cooper since the mid-1990s, when he began probing the role of altered splicing of proteins in this disease, with particular attention to how the binding of CUGBP1 (now called CELF1) to the CUG repeat expansion in the DMPK gene contributes to this phenomenon.
Beverly L. Davidson, Ph.D.
Dr. Davidson is the professor of pathology and laboratory medicine at the University of Pennsylvania Perelman School of Medicine. Dr. Davidson’s lab addresses fundamental questions in the pathogenesis and therapy of hereditary neurogenetic diseases and the role of noncoding RNAs in neural development.
John Day, M.D., Ph.D.
Dr. Day is the director of the Neurology & Neurological Sciences Department at Stanford University. Dr. Day is involved in ongoing research defining causes, diagnosis and novel treatments of genetic neuromuscular disorders.
Richard Finkel, M.D.
Dr. Finkel is a pediatric neurologist and chief of the division of neurology at the Nemours Children's Hospital in Orlando, Florida, U.S. His research interests are concerned with the development of outcome measures, and with the design and execution of clinical trials in spinal muscular atrophy, Duchenne muscular dystrophy, Fabry and Pompe diseases.
Cynthia Gagnon, Ph.D.
Dr. Gagnon is a professor and member of the interdisciplinary research group on neuromuscular disorders at the University of Sherbrooke in Quebec, Canada. Her current research focuses on the characterization of neuromuscular diseases in the interdisciplinary research group on neuromuscular diseases in order to develop rehabilitation interventions.
Mario Gomes-Pereira, Ph.D.
Dr. Gomes-Pereira is a research scientist at Imagine Institute for Genetic Diseases in Paris. His current research focuses on the molecular and cellular mechanisms of brain disease in myotonic dystrophy.
Chad Heatwole, M.D.
Dr. Heatwole is a professor of neurology at the University of Rochester. He is committed to providing optimal care to patients with neurological and neuromuscular disease; teaching students, residents, and fellows; and training faculty in therapeutics and outcome measure development research.
Ralf Krahe, Ph.D.
Dr. Krahe is a professor in the Department of Genetics at the University of Texas MD Anderson Cancer Center in Houston, Texas. Dr. Krahe’s research focuses on the identification and characterization of human rare disease genes, their mutations and underlying pathomechanisms that underlie several Mendelian diseases.
Adrian Krainer, Ph.D.
Dr. Krainer is a professor at Harvard University’s Cold Spring Harbor Lab and studies the mechanisms of RNA splicing, ways in which they go awry in disease, and the means by which faulty splicing can be corrected. In particular, he studies splicing in spinal muscular atrophy (SMA), a neuromuscular disease that is the leading genetic cause of death in infants.
Ami Mankodi, M.D.
Dr. Mankodi is a clinical investigator at the National Institutes of Health. Her research goals are to study disease mechanisms and develop treatments in hereditary skeletal muscle diseases.
Giovanni Meola, M.D.
Dr. Meola is currently the chairman of the Department of Neurology and Stroke-Unit at IRCCS Policlinico San Donato. Additionally, he serves as the director of the neurology residency program at the University of Milan. He is an expert in the diagnosis and management of myotonic dystrophies and non-dystrophic myotonias. As a researcher, he developed the diagnosis of myotonic dystrophy type 2 on muscle biopsy and muscle channelopathies by specific clinical and genetic protocols.
Laurence Mignon, Ph.D.
Dr. Mignon is the director of clinical development at Ionis Pharmaceuticals. Prior to joining Ionis Pharmaceuticals, Dr. Mignon was a clinical scientist at Orexigen Therapeutics and an associate scientist in the department of neurology at the University of California, Los Angeles.
Emmanuel Mignot, M.D., Ph.D.
Dr. Emmanuel Mignot is a professor of psychiatry and behavioral sciences at Stanford University and director of the Stanford Center for Sleep Sciences and Medicine. Most of his current research focuses on the neurobiology, genetics and immunology of narcolepsy, a disorder caused by hypocretin cell loss, with an indirect interest in the neuroimmunology of other brain disorders.
Darren Monckton, Ph.D.
Dr. Monckton is a professor of human genetics at the University of Glasgow. He focuses his research work on understanding the molecular turnover and role of tandemly repeated DNA sequences in the human genome and their relationship to inherited disease, with a specific focus on the CTG repeat within the gene associated with myotonic dystrophy type 1.
Francesco Muntoni, M.D.
Dr. Muntoni is the professor of pediatric neurology and Honorary Consultant in pediatric neurology at University College London, with an interest in molecular aspects of neuromuscular disorders. From a translational research perspective, Dr. Muntoni is interested in manipulation of splicing of genes involved in neuromuscular disorders, including spinal muscular atrophy and Duchenne muscular dystrophy.
Christopher E. Pearson, Ph.D.
Dr. Pearson is a senior scientist at the Hospital for Sick Children’s department of genetics; an associate professor at the University of Toronto’s department of medical genetics and microbiology, and a member of the Canadian Genetic Diseases Network. Dr. Pearson's research concerns the molecular mechanisms of genetic mutations involving trinucleotide repeat sequences.
Stuart W. Peltz, Ph.D.
Dr. Peltz founded PTC Therapeutics, Inc. in 1998, and has served as chief executive officer and a member of the board of directors since the company's inception. PTC Therapeutics, originally a research organization based in the expertise of RNA processes and control, is now a publicly traded company on NASDAQ focused on the discovery, development and commercialization of orally-administered, small-molecule treatments for rare disorders and oncology.
Laura Ranum, Ph.D.
Dr. Ranum is the founding director of the Center for NeuroGenetics and professor of molecular genetics and microbiology at the University of Florida. Dr. Ranum focused her research on disorders that result from repeat expansion mutations, such as those that cause myotonic dystrophy type 1 and type 2.
Jacinda Sampson, M.D., Ph.D.
Dr. Sampson is a clinical associate professor of Neurology and Neurosciences at Stanford University Medical Center. Her areas of interest include myotonic dystrophies, Duchenne muscular dystrophy, and neurogenetic disorders such as neurofibromatosis, hereditary spastic paraparesis, and spinocerebellar ataxia, among others.
Benedikt Schoser, M.D.
Dr. Schoser is senior consultant neurologist at the Friedrich-Baur-Institute, Department of Neurology and serves as head of the interdisciplinary neuromuscular unit at the Klinikum München, Ludwig-Maximilians-University. His current research focuses on metabolic myopathies, triadopathies, and repeat expansion disorders exploiting methods in human patient cells to understand the pathophysiology and to develop targeted therapies.
Nicolas Sergeant, Ph.D.
Dr. Sergeant is a postdoctoral fellow at the University of Liverpool, and is currently research director of the Alzheimer & Tauopathies team at the Jean-Pierre Aubert Research Center, where he leads a group on a research project focused on understanding the mechanisms of neurofibrillary degeneration. Dr. Sergeant has interests on the transcriptional and translation aspects of tau in normal and pathological conditions.
S. H. Subramony, M.D.
Dr. Subramony is a professor at the University of Florida’s Department of Neurology. His investigative interests have been in the field of ataxias, and he co-directs the Ataxia Clinic in the Center for Movement Disorders and Neurorestoration and the University of Florida.
Maurice Swanson, Ph.D.
Dr. Swanson is a professor of molecular genetics and microbiology at the University of Florida College of Medicine. A major objective of his research has been to address the question of how RNA processing is regulated during embryonic, fetal and postnatal development and how this regulation is disrupted in neurological disease, particularly in microsatellite expansion disorders.
Charles Thornton, M.D.
Dr. Thornton is a professor of neurology, and dean of the department, at the University of Rochester. Dr. Thornton studies neurogenetic disorders, including myotonic dystrophy and therapeutics, such as antisense approaches. His work has contributed to the knowledge of genetics, molecular mechanisms, clinical features, natural history, and biomarkers of myotonic dystrophy. Additionally, he has collaborated broadly to develop new treatments and bring them to clinical trials.
Baziel Van Engelen M.D., Ph.D.
Dr. van Engelen is associate professor for neuromuscular diseases at the Radboud University Nijmegen Medical Centre, and ENMC research director in 2010. His focus is on clinical and translational research of neuromuscular disorders, especially myopathies.
Derick Wansink, Ph.D.
Dr. Wansink is an assistant professor in the department of cell biology at the Radboud University Medical Centre in The Netherlands. Dr. Wansink studies the use of antisense oligonucleotides as a promising tool to neutralize toxic (CUG)n-expanded RNA to improve disease manifestation in patients with DM1.
Berend Wieringa, Ph.D.
Dr. Wieringa is the head of the department of cell biology at the Radboud Institute of Molecular Life Sciences. His group is studying how the production and cellular distribution of ATP is linked to ATP use by carrying out fundamental research into glycolysis, mitochondrial energy supply, and the role of 'distribution enzymes' (such as creatine kinases en denylate kinases).