Scientific Advisory Board

ALAN H. BEGGS, PH.D.

Alan Beggs is director of The Manton Center for Orphan Disease Research at Boston Children's Hospital and the Sir Edwin and Lady Manton Professor of Pediatrics at Harvard Medical School.  He received his A.B. degree in biology at Cornell University and his Ph.D. in human genetics at Johns Hopkins University.  Dr. Beggs has been a standing and ad hoc member of numerous National Institutes of Health study sections and grant reviewer for the Muscular Dystrophy Association, March of Dimes and various international funding agencies.  He is a member of the scientific advisory boards of A Foundation Building Strength, the Congenital Muscle Disease International Registry, and several biotechnology companies developing treatments for rare diseases, as well as on the Board of Directors of American MedChem, a nonprofit devoted to drug development for rare and neglected diseases of children.  His laboratory has led studies to identify the genetic basis for a wide variety of rare conditions with a particular focus on skeletal muscle and its defects in congenital myopathies and related neuromuscular diseases.  Current research is focused on utilizing genetic approaches in human patients and animal models to understand the pathophysiology of, and to develop targeted therapies for, these devastating childhood disorders.

RANDALL L. CARPENTER, M.D.

Dr. Carpenter has over 30 years' experience in academic medicine, basic science and clinical research, and pharmaceutical drug development. He is currently Chief Scientific Officer or the Rett Syndrome Research Trust. His prior experience in the pharmaceutical and biotechnology industries include Co-Founder, President and CEO of Seaside Therapeutics, President and CEO of Sention, VP of Clinical Research & Development and Regulatory Affairs at Adolor Corporation and member of Astra Pain Control's Global Therapeutic Area Team. While in industry, Dr. Carpenter led translational medicine teams responsible for 8 successful IND submissions and dozens of GCP-compliant clinical trials. Prior to joining industry, he held academic faculty appointments at Virginia Mason Medical Center, the University of Washington and Wake Forest University where he specialized in anesthesiology, pain and translational medicine. Dr. Carpenter is the author of more than 70 peer-reviewed articles, holds several patents and has served as editor-in-chief or on the editorial boards of several medical journals. Dr. Carpenter is currently a member of the Scientific Advisory Board of EU-AIMS and the External Advisory Board for the Translational Neuroscience Center at Boston Children's Hospital.

TIMOTHY R. COTÉ, M.D., MPH

Dr. Timothy R. Coté is one of the nation's leading experts in orphan drug regulatory affairs. He served 22 years as a Commissioned Officer at the FDA, NIH, and CDC.   For the four years prior to his May 2011 retirement, Dr. Coté served as the Director of the FDA Office of Orphan Products Development (OODP). In this role he implemented the Orphan Drug Act, personally deciding on over 1400 orphan drug applications and closely tracking marketing approvals for over 150 newly licensed orphan drugs.   He is Board-certified in both Anatomic Pathology and Public Health/Preventive Medicine.  Dr. Cote has over 70 peer-reviewed publications in the medical literature reflecting core interests in cancer epidemiology, HIV/AIDS, tuberculosis and eclectic interests such as bicycle helmet epidemiology and infant mortality in post-war Iraq.  He received a bachelor's degree from Syracuse University, a medical doctorate from the Howard University College of Medicine and a master's degree in Public Health from Harvard School of Public Health.  He established his consultancy, Cote Orphan LLC, alone at his kitchen table in March 2012 but now employs 25 professionals (70% doctoral level) in Silver Spring MD offices.  There they serve the regulatory needs of 350+ biotech companies engaged in making new cures for people with rare diseases.

BRENDAN LEE, M.D., PH.D.

Dr. Lee is the Robert and Janice McNair Endowed Chair in Molecular and Human Genetics, Professor and Chairman of the Department of Molecular and Human Genetics at Baylor College of Medicine.  Dr. Lee co-directs the joint MD Anderson Cancer Center and Baylor College of Medicine Rolanette and Berdon Lawrence Bone Disease Program of Texas, and the Baylor College of Medicine Center for Skeletal Medicine and Biology.  He is Founder and Director of the Skeletal Dysplasia Clinic at Texas Children's Hospital, and of the Medical Student Research Track at Baylor.  As a pediatrician and geneticist, Dr. Lee studies structural birth defects and inborn errors of metabolism. Dr. Lee identified the first genetic causes of human skeletal dysplasias that affect the growth and strength of the skeleton.  Most recently, he discovered new causes of brittle bone disease in children.  In so doing, he is developing new approaches for diagnosing and treating these disorders.  In the area of metabolic disease, he is developing new treatments for maple syrup urine disease and urea cycle disorders that are now identified at birth by comprehensive newborn screening.  Early diagnosis and treatment will be essential for preventing future complications that may lead to brain injury and death.  Dr. Lee has received local and national recognition including election to the National Academy of Medicine (NAM), as Fellow of the American Association for the Advancement of Science (AAAS), the Texas Academy of Medicine, Engineering, Science, and Technology (TAMEST), the Association of American Physicians (AAP), the American Society for Clinical Investigation (ASCI), and the Society of Pediatric Research (SPR).  He has also been awarded the TAMEST Peter O'Donnell Award in Medicine, the Society for Pediatrics Research E. Meade Johnson Award for Pediatrics Research, the Michael E. DeBakey Excellence in Research Award, the American Philosophical Society's (APS) Judson Darland Prize for Patient-Oriented Clinical Investigation, and Best Doctors in America.

STUART J. SWIEDLER, M.D., PH.D.

Stuart J. Swiedler is a biotechnology consultant with more than 25 years of experience in the biotechnology field, primarily as a scientist and executive at Glycomed, Inc., and as a clinical scientist and senior executive at BioMarin Pharmaceutical Inc. Over a 10-year period at BioMarin, he contributed to both the non-clinical and clinical aspects of drug development for the regulatory approvals of the orphan drugs Aldurazyme, Naglazyme and Kuvan. He continues to focus on orphan drug products for genetic diseases, serving as Chairman of ArmaGen, and providing his clinical expertise to both biotech companies and investment firms. He received his Bachelor of Science degree from the University at Albany, and his M.D. and Ph.D. degrees from the Johns Hopkins University School of Medicine. He completed a residency program in Anatomic Pathology at Yale University School of Medicine and Duke University School of Medicine, and a post-doctoral fellowship at Duke.