Cure CMD SMAB Members
Carsten Bonnemann, MD (Cure CMD SMAB Chairman)
Dr. Carsten Bönnemann is a pediatric neurologist specializing in neuromuscular disorders and neurogenetics. He graduated from medical school in Freiburg, Germany. He completed pediatric training in Hamburg and in Goettingen, and training in child neurology at MGH/Harvard Medical School in Boston. His neuromuscular training continued at Children’s Hospital Boston, where he also conducted research in Dr Kunkel’s lab working on gene identification in the muscular dystrophies. In 2002 he joined the Children’s Hospital of Philadelphia/University of Pennsylvania where he was Co-Director of the Neuromuscular Program and Director of the Neurogenetics Clinic. Since 2010 Dr. Bönnemann is a Senior Investigator in the Neurogenetics Branch and Chief of the Neuromuscular and Neurogenetic Disorders of Childhood Section at the National Institute of Neurological Disorders and Stroke/National Institutes of Health. The clinical focus of the section at NIH ranges from the clinical characterization and management of known and new disorders to translational aspects leading to clinical trials. Research in the lab is concerned with the molecular genetics and cell biology of muscular dystrophies and early onset myopathies in order to develop molecular-based treatments. More basic research focuses on the role of the extracellular matrix in muscle maintenance and regeneration. Before his position at the NIH he was at He was a Pew Fellow in the Biomedical Sciences and received the Derek Denny-Brown Neurological Scholar Award from the American Neurological Association.
Yiumo Michael Chan, PhD
Dr. Yiumo Chan’s main research focus is to elucidate the biochemical pathways underlying various forms of muscular dystrophies and to develop treatments for the diseases. He obtained his B.Sc and Ph.D. degrees from the University of Chicago and completed his post-doctoral training in Dr. Louis Kunkel’s laboratory at Children’s Hospital Boston focusing on limb-girdle muscular dystrophies (sarcoglycanopathies). Dr. Chan has been conducting basic and translational research in both sarcoglycanopathies and dystroglyanopathies for the past 10 years. He was a Staff Scientist in Geisinger Medical Center, PA and Senior Scientist in Carolinas Medical Center, NC. Since 2011, Dr. Chan became the Senior Research Manager in Ultragenyx Pharmaceutical, Novato, CA working on other rare forms of myopathies.
Celia Dominguez, PhD
Dr. Celia Dominguez is currently Vice President of Chemistry at CHDI Inc. a privately held, not-for-profit organization that is pursuing a biotech approach to the discovery and development of drugs that prevent or slow the progression of Huntington Disease. Dr. Dominguez received a B.S. in Chemistry from the Rutgers University, her Ph.D. in Synthetic Organic Chemistry from Brown University, and Post-doctoral training at NIH/NIDDK. Dr. Dominguez has over 18 years of drug discovery and development experience in the Pharmaceutical Biotechnology sector with Amgen and DuPont Merck, where she held positions of increasing responsibility. Dr. Dominguez went on to lead and manage various projects from drug discovery to clinical trials in the areas of cardiovascular, oncology, inflammation and neurobiology resulting in seven (7) clinical candidates and participated in a team effort for two registered drugs.
Petra Kaufmann, MD
Petra Kaufmann, M.D., M.Sc., is Director of the Office of Clinical Research. Prior to joining NINDS, Dr. Kaufmann was a tenured associate professor of neurology at Columbia University in New York City. She earned her medical degree from the University of Bonn, Germany, and a master of science degree in biostatistics from Columbia’s Mailman School of Public Health. She completed an internship in medicine at St. Luke’s/Roosevelt Hospital in New York City, and trained in neurology and clinical neurophysiology at Columbia University. She did a postdoctoral fellowship in molecular biology of mitochondrial diseases at Columbia’s H. Houston Merritt Center for Muscular Dystrophies and Related Diseases. While on the faculty of Columbia University, she worked clinically in the neuromuscular division, the electromyography laboratories, and the pediatric neuromuscular clinic. Her research focused on the clinical investigation of spinal muscular atrophy (SMA), amyotrophic lateral sclerosis (ALS) and mitochondrial diseases.
Edward Kaye, MD
Edward M. Kaye, MD is currently Group V.P. and Therapeutic Area Head in Clinical Research at Genzyme Corporation where he supervises the clinical research in the lysosomal storage disease programs and in the genetic neurological disorders. He received his medical school education and pediatric training at Loyola University Stritch School of Medicine and University Hospital, Child Neurology training at the Boston City Hospital, Boston University, and completed his training as a Neurochemical Research Fellow (Geriatric Fellow) at the Bedford VA Hospital, Boston University in 1983. He was head of the section of Neurometabolism, Pediatric Neurology at The Floating Hospital for Children (Tufts University) and research fellow in gene therapy at the Massachusetts General Hospital until 1996 when he moved to Philadelphia to become Chief of Pediatric Neurology and Director of the Barnett Mitochondrial Laboratory at St. Christopher’s Hospital for Children. In 1998, he accepted the appointment as Chief of Biochemical Genetics at the Children’s Hospital of Philadelphia and Associate Professor of Neurology and Pediatrics until moving to Genzyme Corporation at the end of 2001. He continues as a member of the Neurology Department at the Children’s Hospital of Boston and has been on the editorial boards of a number of journals including Annals of Neurology, Journal of Child Neurology, and Pediatric Neurology. He is also on the Scientific and Medical Advisory Boards of the United Leukodystrophy Foundation, Spina Muscular Atrophy Foundation and Prize4Life.
Dione T. Kobayashi, PhD
Dione T. Kobayashi, PhD is an independent consultant focused on rare disease drug development. Dr. Kobayashi received a B.Sci. in Brain & Cognitive Science from MIT, an M.Sci. in Cell, Molecular & Neuroscience from the University of Hawaii at Manoa, and her Ph.D. in Neuroscience from the University of Edinburgh. Dr. Kobayashi has over 15 years of industrial and venture philanthropy drug development experience with Genentech, Elan, Rinat/Pfizer, and the Spinal Muscular Atrophy Foundation. Dr. Kobayashi has played leadership and consulting roles in several programs in the neuroscience, ocular, and rare disease space from early discovery to early therapeutic trials, resulting in 5 clinical candidates. In addition to working on several neuromuscular diseases, Dr. Kobayashi has worked on projects leveraging an array of approaches, including small molecules, antibodies, enzyme replacement, antisense oligonucleotides, and gene therapy.
Prof. Francesco Muntoni
Professor Francesco Muntoni is a pediatric neurologist with an interest in clinical and molecular aspects of neuromuscular disorders. As director of the Dubowitz Neuromuscular Centre at Great Ormond Street Hospital, Prof. Muntoni follows one of the largest cohorts of congenital muscle disease patients. His group has contributed to the identification of a number of disease loci and genes involved in 13 neuromuscular disorders in collaboration with European and USA collaborators, including the identification of mutations in the FKRP and LARGE genes. Prof. Muntoni is co-investigator of Duchenne muscular dystrophy exon skipping trial.
John Porter, PhD
Dr. John Porter is Program Director at the National Institute for Neurological Disorders and STroke (NINDS). He manages a portfolio of research grants that focuses on diseases affecting the motorneuron (spinal muscular atrophy), axon (inherited and acquired peripheral neuropathies), neuromuscular junction (inherited and acquired myasthenia gravis and slow channel syndrome) and skeletal muscle (myotonic dystrophy and congenital, Duchenne, Emery-Dreifuss, facioscapulohumeral, limb girdle, and oculopharyngeal muscular dystrophies). He also currently serves as the Excecutive Secretary for the interagency Musuclar Dystrophy coordinating Committee. Dr. Porter received his undergraduate degree in biology from the College of William and Mary and his PhD in Anatomy from Medical College of Virginia and completed his postdoctoral training in systems neurophysiology at the University of Alabama at Birmingham. Prior to joining the NIH, Dr. Porter was Professor of Neurology at Case Western Reserve University. His 20+ year academic research career focused on extraocular muscle biology in health and disease, including the mechanisms responsible for its novel responsese to a variety of neuromuscular disorders.
Markus Rüegg, PhD
Dr. Markus Rüegg is Professor for Neurobiology at the Biozentrum, University of Basel, Switzerland. He studied Biochemistry and Neurobiology in Zurich and Stanford and was co-founder and member of the management of MyoContract, now called Santhera Pharmaceuticals, a biotech company that dedicated to develop therapies for neuromuscular diseases. Dr. Rüegg is an internationally recognized expert in neuromuscular research and has published numerous scientific papers in the field of neuromuscular research. In recent years, his work has also been devoted to the study of therapeutic interventions in mouse models for congenital muscular dystrophy. Dr. Rüegg is also partner of the network TREAT-NMD.
Anne Rutkowski, MD
Anne Rutkowski, MD is a co-founder and Vice-Chairman of Cure CMD. Dr. Rutkowski is a practicing board certified emergency medicine physician in Los Angeles. Dr. Rutkowski’s daughter has congenital muscular dystrophy, subtype, dystroglycanopathy. Dr. Rutkowski graduated from the University of California Irvine Medical School, elected to Alpha Omega Alpha Honor Medical Society. She attended Bryn Mawr College as an undergraduate, graduating Magna cum laude with Honors in Biology. Prior to attending medical school, Dr. Rutkowski taught for 3 years in an inner city elementary school in Los Angeles, as part of Teach for America. She would like to shrink the diagnostic odyssey, see improvements and standardization of guidelines in medical care for all patients with CMD and a focused approach to identifying therapeutic targets. As a former educator, education and improved disease awareness are two further areas of focus for Cure CMD.
Volker Straub, MD
Dr. Volker Straub, Professor of Neuromuscular Genetics, was trained as a Paediatric Neurologist at the University of Düsseldorf and the University of Essen in Germany. After his PhD thesis on Duchenne muscular dystrophy he worked as a postdoctoral research fellow in the laboratory of Kevin Campbell at the University of Iowa. In 2003 Volker joined the Institute of Human Genetics of Newcastle University, UK. Volker is joint co-ordinator of TREAT-NMD (www.treat-nmd.eu), executive board member of the World Muscle Society and executive board member of the Institute of Human Genetics at Newcastle University. Together with Hanns Lochmüller, Volker was responsible for setting up the German muscular dystrophy network, MD-NET, of which he was joint coordinator until 2008. Within the neuromuscular research group at Newcastle, Volker has a long-standing interest in the pathogenesis of muscular dystrophies, with research using zebrafish and mouse models. His current research also involves the application of contrast enhanced MRI.
Past SMAB Members
Alexandre Mejat, PhD
Professor Alexandre Mejat was first diagnosed with a muscular dystrophy when he was five and has been diagnosed with a Bethlem myopathy (Collagenopathy) at 24. He studied molecular and cellular biology in the Ecole Normale Superieure of Lyon (France) and obtained his PhD in biology after studying muscular atrophy mechanisms. Since 2005, he is a post-doctoral fellow at the National Institutes of Health (NIH, Bethesda, USA) in Dr Tom Misteli laboratory studying muscular laminopathies (Emery-Dreifuss Muscular Dystrophy). Since 2004, Alexandre is administrator of the Association for stem cells study (I-Stem institute, Evry, France, www.istem.eu) and an international expert for the scientific committee of the French Association against Myopathies (www.afm-france.org). He joined the Scientific and Medical Advisory Board of CureCMD in 2009.