FSH Society Scientific Advisory Board (SAB)

 

David E. Housman, Ph.D.
Chairman

David E. Housman, Ph.D., is Chairman of the FSH Society’s Scientific Advisory Board (SAB).  He is Ludwig Professor of Biology at Massachusetts Institute of Technology.  Professor Housman received his Ph.D. from Brandeis University in 1971. Professor Housman's research focuses on the identification and characterization of genes involved in human diseases using high-throughput mapping of single nucleotide polymorphisms (SNPs). He and his colleagues have developed a rapid genotyping technology to determine the genetic roots of neurodegenerative disease, cancer and cardiovascular disease. The same approach can now be applied to determining the genetic basis of pharmacological response. Inter-patient variability in drug efficacy, metabolism and toxicity introduces considerable unknowns that can obscure results in human clinical trials.  Professor Housman is interested in developing a system that includes cell-based screening of compounds using cells derived from different genetic backgrounds ("virtual patients"), combined with rapid genotyping to identify genetic markers linked to drug response and toxicity. This system can be used, along with conventional preclinical profiling methods, to qualify drug candidates before they are advanced to expensive clinical trials.

 

Michael R. Altherr, Ph.D.

 

Robert H. Brown, Jr., M.D., D.Phil.
Board Member Emeritus

Robert H. Brown Jr., M.D., D.Phil., is a Professor of Neurology at Harvard Medical School and Director of the Day Neuromuscular Laboratory and Muscular Dystrophy Association clinic at the Massachusetts General Hospital. The Day Laboratory for Neuromuscular Research was founded in 1984 by Dr. Brown to investigate neuromuscular diseases. Throughout his career, Dr. Brown has been honored for his exceptional commitment to the fight to cure neuromuscular diseases. These honors include induction into the Institute of Medicine and the American Neurological Association. The Day Laboratory has become an internationally recognized center for research and clinical care in neuromuscular diseases. Dr. Brown and his collaborators have made many important contributions to the understanding of the biology of neuromuscular diseases, including identification of several genes involved in familial ALS. The MGH Day Laboratory contributions include investigations of amyotrophic lateral sclerosis (ALS), Miyoshi myopathy, periodic paralysis, and adrenoleukodystrophy (lorenzo’s oil disease). Current research includes stem cell transplantation studies, drug screening to find promising compounds for treatment, human and mouse trials of promising drugs, and genetic investigations to find new genes that cause ALS in families. There are several investigators in this lab, including: Merit Cudkowicz, MD; Peira Pasinelli, PhD; Davide Trotti; PhD; Gilmore O’Neill, MD, Jonathan Francis, PhD  With Dr. Brown’s consultation and assistance, the Society successfully organized the 1997 Scientific Conference on FSHD.

 

Rune R. Frants, Ph.D.

Rune R. Frants, Ph.D., is Professor of Medical Genetics at Leiden University Medical Center in Leiden, The Netherlands. Born in Finland, Dr. Frants received his Ph.D. from Abo Akademi, the only Swedish-speaking university in Finland at the time.  He was Assistant Professor at the Institute of Human Genetics, Free University Amsterdam from 1973 to 1980 and Associate Professor from 1980 to 1987. In 1987 he became Associate Professor at the Institute of Human Genetics at Leiden University (now Leiden University Medical Center), and became Professor of Medical Genetics in 1994.  The field of medical genetics offers a challenging combination of biochemistry, biology and genetics to solve medically relevant problems.  During his active research life, Dr. Frants has worked on a plethora of genetically determined disorders, including lung emphysema, gastric cancer, skin cancer (melanoma), cardiovascular disease and neurogenetics, in particular migraine and other forms of headache. Dr. Frants’s fascination for the enigmatic FSHD goes back to his second day in Leiden, when his neurology colleague, Dr. George Padberg, visited him to discuss Dr. Padberg’s “favorite disease” - FSHD. Since then, FSHD has continued to occupy a major part of his scientific heart. FSHD offers a multidisciplinary mystery at the heart of biology and medicine. Dr. Frants writes that it would be easy to establish a research program of a complete medical faculty around FSHD. Just to mention some key words: genetics, epigenetics, muscle biology, chromosome structure and function, meiotic and mitotic recombination, nuclear domains, cis- and trans- gene expression, and regulation. Dr. Frants has mentored some 30 Ph.D.’s and authored more than 300 peer-reviewed articles and numerous large national and international grants. He enjoys working in various scientific advisory boards and committees.

 

Louis M. Kunkel, Ph.D.

Dr. Louis Kunkel is an internationally recognized geneticist and has years of experience and scientific success in the understanding of the basis for muscular dystrophies.  Over the past three decades, Dr. Kunkel has devoted his career to understanding the molecular basis, and developing therapy, for neuromuscular disorders and muscular dystrophy.  Dr. Kunkel's work is unique in that it covers the entire spectrum of genetics-based research from basic research on genes, to translating how these genes cause disease, to finding new avenues for clinical trials and new therapies.  Dr. Kunkel is a pioneer in the field of human genetics and the genetics of muscular dystrophy, a family of hereditary muscle-destroying disorders marked by progressive muscle weakness and degeneration. In 1986, Dr. Kunkel discovered the gene that causes Duchenne muscular dystrophy, the most common form of childhood muscular dystrophy. In 1987, he was the first to pinpoint the gene's importance in producing the critically needed muscle protein, dystrophin. In the 1990s, Dr. Kunkel demonstrated that injection of either blood stem cells or muscle stem cells can partially restore dystrophin in affected skeletal muscles, a finding that may lead to treatments for many types of muscle diseases.  Dr. Kunkel has authored around 200 journal articles and 20 book chapters. He has received more than 20 awards and honors for scientific leadership and achievement, including memberships in the National Academy of Sciences and the American Academy of Arts and Sciences, the Gairdner Foundation International Award in 1989, the Silvio O. Conte decade of the Brain Award in 1991, the MDAUSA's  S. Mouchly Small Scientific Achievement Award in 1999, and the William Allan Award for distinguished service in human genetics in 2004. He is also Chairman of the MDAUSA Scientific Advisory Committee.  For many years, Dr. Kunkel led the Genetics Division at Children’s Hospital Boston. Dr. Kunkel is personally involved in each project in his own laboratory, which helps to assure the fulfillment of his scientific objectives. He leads insightful group discussions weekly, and spends significant time and energy working one-on-one with members of his laboratory. Dr. Kunkel currently holds appointments as Director of the Program in Genomics at Children’s Hospital Boston; Professor of Pediatrics and Genetics, Harvard Medical School, Boston; and Investigator, Howard Hughes Medical Institute. He is also Director of the Sequencing / Genotyping, Expression Array and FACS Sorting Core Facilities at Children’s Hospital Boston. Besides serving on the FSH Society SAB, Dr. Kunkel is also on the Board of Directors.

 

William R. Lewis, Sr., M.D.

Dr. William R. Lewis, Sr., has practiced neurological surgery for more than four decades; he still practices, however on a more limited basis. Dr. Lewis attended Phillips Academy and received undergraduate degrees from the Universities of North and South Carolina. He earned his Doctorate of Medicine from Duke University Medical Center and completed his residency at Stanford University. Dr. Lewis resides in California with Duncan, his wife of more than 50 years; they have four children and eight grandchildren. Dr. Lewis enjoys gardening, spending time with his grandchildren, handiwork, reading medical journals and other educational materials.  Besides serving on the FSH Society SAB, Dr. Lewis has been a member of the Board of Directors since 1991 and Chairman since 2006.

 

William R. Lewis, III, M.D.

Dr. William R. Lewis, III, is Clinical Professor of Internal Medicine in the Division of Cardiovascular Medicine at the University of California, Davis Medical Center and is Director of the Echocardiography Laboratory and Heart Failure Program. Dr. Lewis has authored over 100 publications. Dr. Lewis was born at Duke Hospital in Durham, North Carolina and received his Doctorate of Medicine in 1985 from Duke University. He resides in Sacramento, California. Besides serving on the FSH Society SAB, Dr. Lewis is a member of the Board of Directors.

 

Katherine D. Mathews, M.D.

Dr. Mathews is a Pediatric Neurologist and Director of the Child Neurology Clinic at the University of Iowa Hospitals and Clinic in Iowa City, Iowa; and Associate Professor of Pediatrics at the Roy J. and Lucille A. Carver College of Medicine, University of Iowa. Dr. Mathews became involved in the FSHD community in approximately 1990, when she was doing fellowship training in human genetics. Her research career began with using genetic linkage to identify the gene causing FSHD. Dr. Mathews closed her laboratory in 1998 due to increasing clinical and administrative demands, and currently her academic efforts have been focused on improving the quality of care for patients with neuromuscular disease. She has maintained an active interest in the impact of molecular genetics on neuromuscular diseases (diagnosis, pathophysiology and treatment). Dr. Mathews has served on NIH and CDC working groups to define the direction of research on neuromuscular disease. She has also become increasingly involved in collaborative clinical research efforts, many of which are laying a groundwork for clinical trials.

 

Theodore, L. Munsat, M.D.
Board Member Emeritus
Scientific Advisory Board Member Emeritus

Dr. Munsat is Professor Emeritus of Neurology at Tufts University. Trained at the Neurological Institute of New York, Dr. Munsat was director of ALS and Neuromuscular clinics at UCLA, University of Southern California and New England Medical Center, where he established the first ALS clinic in New England. He has authored over 200 publications in neuromuscular diseases, with emphasis on ALS and clinical trials in ALS.  Dr. Munsat is a former President of the American Academy of Neurology. He has received the Sheila Essey Award among others. Currently, Dr. Munsat directs educational programs for developing countries as Chairman of the Education Committee of the World Federation of Neurology.

 

George W.A.M. Padberg, M.D.

 

Paul Schultz, M.D.
Board Member Emeritus
Scientific Advisory Board Member Emeritus

 

Kathryn Wagner, M.D., Ph.D.

Dr. Kathryn Wagner is an Associate Professor of Neurology and Neuroscience at the Johns Hopkins Hospital. Dr. Wagner focuses on neuromuscular and neurogenetic diseases with a special emphasis on hereditary muscle diseases. Dr. Wagner is co-director of an NIH-funded Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center focusing on modulation of muscle growth for muscular dystrophies and also a participant in a new FSH Wellstone center directed by Charles Emerson at Boston Biomedical Research Institute. Her research focuses on mechanisms to promote muscle regeneration. One successful approach has been to block a natural muscle protein, myostatin. Dr. Wagner and colleagues have shown that the absence of myostatin increases muscle mass and strength and decreases fibrosis in animal models of muscular dystrophy and is associated with increased muscle mass in humans. Dr. Wagner conducts clinical trials in muscular dystrophy and cares for patients with FSH dystrophy in the Muscular Dystrophy Association Clinic at Johns Hopkins.