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.

Dr. Altherr received the Bachelor of Science degree in Biological Sciences from the Florida Institute of Technology in 1979 and the Master of Science degree in 1981. Dr. Altherr then moved to the University of California, Davis to pursue a doctoral dissertation in the Department of Genetics. Following the completion of his dissertation in 1986, circumstances led Dr. Altherr to employment in the biotechnology arena, where he had the good fortune to make the acquaintance of a number of leading figures in the field of Human Genetics. It was at this time that Dr. Altherr met Dr. John Wasmuth from the University of California at Irvine. This was a seminal event in Dr. Altherr’s scientific career. He immediately recognized the value of somatic cell genetics to support both the human genome project as well as a tool to pursue the genetic basis of inherited illness. Dr. Altherr joined the Wasmuth laboratory in the summer of 1987. Dr. Altherr was a Hereditary Disease Foundation (HDF) Fellow until December 1990 when he obtained the rank of Assistant Research Professor at UC Irvine. Dr. Altherr’s association with the members of the HDF Collaborative Research Group would forever be imprinted on his approach to scientific endeavor. This group included scientific luminaries all working together to find the genetic defect that was responsible for Huntington disease. This incredible and unprecedented collaborative effort led to the identification of the causal gene in the early months of 1993. The open and sharing environment that existed among the member laboratories is something that Dr. Altherr has attempted to emulate in all of his subsequent endeavors. Dr. Altherr’s tenure in the Wasmuth laboratory coincided with the initiation of the Deparment of Energy’s “National Laboratory Gene Library Project” which, in many ways, marked the beginning of the Human Genome Project. At that time, Dr. Altherr initiated a relationship with Los Alamos National Laboratory to obtain flow sorted chromosome specific genomic DNA libraries to aid the Wasmuth group in the search for genetic defects on chromosomes 4 and 5. It was through his preparation of these libraries for the production of chromosome specific fluorescence in-situ hybridization probes that a “happy accident” resulted in Dr. Altherr’s entry into the pursuit of the FSHD gene. Using these chromosomal paint probes to identify the reciprocal translocation partner in the parent of a cri-du-chat patient led to the characterization of a chromosome containing the small terminal segment of the long arm of human chromosome 4, the DNA segment associated with FSHD. This translocated t(4;5) chromosome was quickly segregated into a somatic cell hybrid, as the International FSHD Consortium began to find linkage to this genomic segment. With these materials, a mono-chromosome hybrid that contained only a small segment of 4q35 and an arrayed chromosome 4 specific cosmid library, Dr. Altherr offered his assistance to the group and began to construct a clone contig and provide a high resolution map of the region. In 1991, Dr. Altherr received funding from the Muscular Dystrophy Association to pursue the genetic cause of FSHD. At this time, he was joined by an extremely capable graduate student, Sara Winokur and together they quickly produced a number of important findings including one of the first physical maps of the 4q35 region, and the mildly repetitive nature of the sequence in the region that led to the “heterochromatin hypothesis” that drove the field for a number of years. Dr. Altherr continued to work on FSHD with support from MDA until 1996 when the commitments of his current position forced him to turn over control of the project to Dr. Winokur. In 1992, Dr. Altherr began his residence at Los Alamos National Laboratory in the Genomics Group. His efforts were important to developing clone contigs and transcriptional profiling of human chromosome 16. Furthermore, he recognized the value of the information and resources generated in these efforts to pursue “genomic disorders”. With the assistance of a post doctoral associate, Dr. Tracy Wright, Dr. Altherr initiated a series of studies to understand the genetic foundation for the segmental aneusomy condition called Wolf-Hirschhorn syndrome. This disorder is caused by a genetic imbalance resulting from a deletion in chromosome 4 material near the terminus of the short arm. The phenotype is generally severe physical and mental developmental delay. Using a genomics approach, Drs. Altherr and Wright identified the smallest region of overlap associated with this disorder and then to begin to characterize the function of genes found in this segment of the genome. In 1998, Dr. Altherr led the creation of a functional genomics/proteomics resource at Los Alamos National Laboratory. This involved the acquisition of equipment and creation of program objectives to exploit the opportunities presented by the completion of the human draft sequences. In 2000, Dr. Altherr along with Thomas Brettin, initiated a multi-disciplinary program to exploit the functional genomics/proteomics resource to pursue a coordinated project in host/pathogen interactions. This project involved a variety of individuals from microbiologists, cell biologists to information scientists and modelers. Dr. Altherr’s interests in the genetic basis of disease and, historically, in microbial genetics put the team in an interesting position when the events in the fall 2001 unfolded. In 2002, Dr. Altherr found himself representing Los Alamos to the Department of Energy’s interagency group on the Biological Warfare Conventions, and to the University of California Office of the President’s task force on Bioterrorism. During this time, he was significantly involved in the Los Alamos’s efforts to support the development of the National Biodefense Network. Finally, late in 2003 as the initial frenetic pace of the preceding two years began to subside, Dr. Altherr began to consider his future directions. In 2004, Dr. Altherr pursued an “in-house” sabbatical in bioinformatics. Since 2005, Dr. Altherr has contributed to a number of national security related programs and projects for Los Alamos National Laboratory and the Department of Energy.

 

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

Dr. Robert H. Brown, Jr. is Professor and Chair of Neurology at the University of Massachusetts Medical Center and Medical School.   He is also the Director of the Day Neuromuscular Research Laboratory at the University Of Massachusetts Medical School.  Dr. Brown graduated from Harvard Medical School and completed his doctoral training in neurophysiology at Oxford University. Dr. Brown trained in Neurology at the Massachusetts General Hospital. In 1984, The Day Neuromuscular Research Laboratory was founded by Dr. Brown to investigate neuromuscular diseases, including Miyoshi myopathy and ALS.  Dr. Brown’s laboratory has focused on the identification of gene defects that elucidate the molecular pathogenesis of selected neuromuscular diseases including amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig’s disease), muscular dystrophy, adrenoleukodystrophy, hereditary neuropathy and hyperkalemic periodic paralysis.  Knowledge of theses disease genes has facilitated the creation of mouse and cell-based models of these disorders.  In turn, these resources have allowed study of therapeutic strategies using conventional small molecule approaches and new modalities such as inhibitory RNAi.  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.

 

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.

Professor Padberg is head of the Department of Neurology and Chairman of the Neuro Sensory Cluster of UMC St. Radboud and a renowned expert in the field of neuromuscular diseases. He combines a great academic production with specialized patient care and a mode of governance that many young people has enabled to develop into leading scientists. Many of his staff have won awards in recent years. Dr. Padberg regularly gives lectures and advice to members of the patient organization for people with muscular dystrophy, the Netherlands Association of Neuromuscular Diseases. He is a reviewer for the leading international journals in the field of Neurology.

 

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.