Save The Date! Friday April 11th is FightSMA’s 2014 annual webcast.
A panel of spinal muscular atrophy experts will be discussing this year’s progress in SMA and answering your questions coming in from around the world live!
The broadcast airs live at 6:30PM ET on www.fightsma.org. A link will be made available through our website allowing you join in shortly prior to the broadcast. This year’s panel of experts includes: Dr. Charlotte Sumner, Dr. Elliot Androphy, Dr. John Porter, Dr. Alex MacKenzie and Dr. Chris Lorson. We hope that you will join us for what is sure to be an educational webcast!
Biographies follow for our SMA experts on this year’s web panel:
Dr. Charlotte Sumner, M.D.
Associate Professor of Neurology, Johns Hopkins University
Dr. Sumner is an Associate Professor of Neurology and Neuroscience at Johns Hopkins School of Medicine. She received her B.A. from Princeton University and her M.D. from the University Of Pennsylvania School Of Medicine. She completed internal medicine internship and neurology residency at the University of California San Francisco and neuromuscular fellowship at Johns Hopkins School of Medicine. Her scientific training included Neurogenetics fellowship at the National Institute of Neurological Disorders and Stroke. Dr. Sumner cares for patients with inherited diseases of motor neurons and peripheral nerves such as spinal muscular atrophy (SMA) and Charcot-Marie-Tooth (CMT) disease and co-directs the Johns Hopkins CMT clinic.
Dr. Sumner’s research focuses on the genetic and cellular pathogenesis of SMAs with particular attention to therapeutics development for these disorders. This work has included identification of novel genetic causes of these disorders as well as preclinical development of therapeutics now advancing to clinical trials in SMA patients.
Dr. Androphy began his research on SMA at Tufts Medical Center, where his lab identified the critical difference between SMN1 and SMN2 exon 7. After moving to the Department of Medicine at the University of Massachusetts Medical School, his research team focused on the mechanisms of exon 7 recognition and high throughput screens to identify drug like compounds that increase levels of SMN protein. His lab continues to develop novel therapeutics and investigates the functions of the SMN protein in neurons.
Dr. 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, (myotonic dystrophy and congenital, Duchenne/Becker, Emery-Dreifuss, facioscapulohumeral, limb girdle, and oculopharyngeal muscular dystrophies). He is acting Program Director for the lysosomal storage disorders. He currently serves as Executive Secretary for the interagency Muscular Dystrophy Coordinating Committee and is on advisory boards for the Duchenne Muscular Dystrophy Research Program at the Department of Defense, 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. Prior to joining the NIH, Dr. Porter was Professor of Neurology and Neuroscience at Case Western Reserve University where he focused on extraocular muscle biology in health and disease, including the mechanisms responsible for its novel responses to a variety of neuromuscular disorders.
Dr. Alex MacKenzie, M.D., Ph.D.
Co-Chair, FightSMA Scientific Advisory Committee
Principal Investigator, Apoptosis Research Centre,
CHEO Research Institute
Physician, Division of Endocrinology, CHEO
Professor, Department of Pediatrics, Faculty of Medicine,
University of Ottawa
Dr. Mackenzie is a principal investigator at the CHEO Research Institute as well as a professor in the Department of Medicine at the University of Ottawa. He specializes in the study of spinal muscular atrophy with a focus in molecular genetics. Dr. MacKenzie and his team are working on preclinical research pathways for spinal muscular atrophy and other inherited pediatric disorders and orphan diseases.
Dr. Chris Lorson, Ph. D.
Science Director, FightSMA
Co-Chair, FightSMA Scientific Advisory Committee
Professor of Veterinary Pathobiology, College of Veterinary Medicine; Molecular Microbiology & Immunology, College of Medicine, University of Missouri
Dr. Lorson received his Ph.D. from the University of Missouri with post-doctoral studies at Tufts University in Boston. He has dual appointments with both the College of Veterinary Medicine and the School of Medicine at the University of Missouri. Dr. Lorson’s studies are centered on spinal muscular atrophy. His lab focuses on the molecular basis of spinal muscular atrophy, RNA processing and gene therapy.