Consortium Members

Henry J. Baker, DVM, is a Professor of Pathobiology at the Auburn University College of Veterinary Medicine and the Scott-Ritchey Research Center. Dr. Baker discovered and has maintained the feline models of gangliosidosis for 35 years. He has studied numerous therapeutic options for these diseases, including ERT, stem cell transplantation and gene therapy. He has published approximately 100 peer-reviewed articles on molecular characterization and therapy of a variety of animal disease models.

Begona Cachon-Gonzalez, PhD, is senior research associate in the Department of Medicine, Cambridge University, UK. After biologically training at the University of León, Spain, Dr. M. Begoña Cachón-González was awarded a PhD in Molecular Genetics at the Galton Laboratory, University College London. She mapped and characterised the hairless gene while working at NIMR, Mill Hill London. For the last ten years, while at Cambridge University Department of Medicine as a Senior Research Associate, her scientific research has concentrated on the treatment of inborn errors of metabolism where she has pioneered the successful treatment of experimental Tay-Sachs and Related Disorders. Her outstanding therapeutic results with AAV gene therapy appear in a recent issue of Proceedings of the National Academy of Sciences, USA (July 5, 2006).

Nancy R. Cox, MS, DVM, PhD, is an Associate Professor of Pathobiology at the Auburn University College of Veterinary Medicine and Interim Director of the Scott-Ritchey Research Center. Dr. Cox is a neuropathologist with 25 years experience evaluating disease progression in the feline gangliosidosis models. In conjunction with Dr. Baker, she performs intracranial injection of AAV vectors for the current project. She also directs the Necropsy and Histopathology laboratories of the Scott-Ritchey Research Center.

Timothy M. Cox, MD, is Full Professor of Medicine at the University of Cambridge, England, where he is head of department and director of the MB/PhD programme. He trained in cell biology and pathology is a practising internist and Metabolic Physician with a particular interest in the biochemical genetics of nutritional diseases – identifying mutant aldolase B in hereditary fructose intolerance and contributing to the mapping of juvenile hemochromatosis. Latterly he has investigated the genetics, pathogenesis and treatment of lysosomal disorders and initiated clinical development of the first licensed substrate-reducing agent for glycosphingolipid disorders as well as a novel biomarker for Gaucher disease - now in widespread use. He established the first government-funded National specialist center for the treatment of Lysosomal disorders in the UK at Cambridge University NHS Foundation Hospital Trust at Addenbrooke’s hospital, which will serve as the focus for the proposed gene therapy programme for neurodegenerative lysosomal diseases.

Florian Eichler, MD, is an Assistant Professor in Neurology at Harvard Medical School. As Director of the Leukodystrophy Clinic at the Massachusetts General Hospital (MGH) he sees patients with a variety of white matter disorders. His clinical focus has been on diagnosis and identification of potential treatments for patients with neurometabolic disorders. His research focus is on peroxisomal disorders, lipid metabolism, and spatial aspects of nuclear magnetic resonance spectroscopy. Dr. Eichler currently has a K08 career development award from the National Institute of Health to study imaging in leukodystrophy patients and is on the steering committee of several international consortiums.

Douglas R. Martin, PhD, is an Assistant Research Professor at the Auburn University College of Veterinary Medicine and the Scott-Ritchey Research Center. Dr. Martin's doctoral dissertation, entitled Gene Therapy of the Gangliosidoses, was completed in 1999 and focused on retroviral gene therapy for the gangliosidoses. Dr. Martin has 15 years' experience with the feline gangliosidosis models and will be primarily responsible for coordination, implementation and analysis of experiments in the current proposal.

Miguel Sena-Esteves, PhD, is an Assistant Professor in Neurology in the Departments of Neurology and

Neuroscience at the Massachusetts General Hospital and Harvard Medical School, respectively. He is an

expert in vector design, and vector-mediated gene delivery to the brain. His research focuses on developing

gene therapeutic interventions for lysosomal storage diseases using GM1-gangliosidosis as a model disease, brain tumors, and other neurodegenerative diseases.

Thomas N. Seyfried, PhD, is a Full Professor of Biology in the Biology Department at Boston College. His laboratory has worked on glycosphingolipids and lipid diseases for more than 30 years. His objective over the last 10 years has been to develop an effective life long therapy for ganglioside storage diseases.  Dr. Seyfried has more then 100 publications.

Edwin H. Kolodny, M.D.  Dr. Kolodny is a neurologist and geneticist with a longstanding interest in Tay-Sachs and related lysosomal storage diseases (LSDs).  A native of Boston, MA, he is a graduate of Harvard College and the New York University School of Medicine.  He trained in Internal Medicine at Bellevue Hospital (1962-64) and in Neurology at the Massachusetts General Hospital (1964-67). He spent the next three years (1967-70) in Dr. Roscoe Brady’s laboratory at the National Institutes of Health where he helped unravel the enzyme defect in Tay-Sachs disease.  He then returned to Boston where he spent the next 21 years doing research and teaching at the Eunice Kennedy Shriver Center For Mental Retardation.  Among his accomplishments during this period were the establishment of a  diagnostic service for LSDs and of the New England Tay-Sachs Disease Prevention Program. He also began the Neurogenetics Clinic at the Massachusetts General Hospital (MGH) and rose through the ranks to become Professor of Neurology at the MGH and the Harvard Medical School and Director of the Eunice Kennedy Shriver Center.  In 1991 he returned to New York University School of Medicine as Chairman of its Department of Neurology where he has continued his research on the  biochemical and molecular bases of the LSDs in humans and animals.  He participated with Dr. Bill Krivit  in the first bone marrow transplantation for globoid cell leukodystrophy, has reported the successful use of gene therapy to treat Parkinsonism and glioma in rats, and has participated in several industry-sponsored trials of enzyme replacement therapy and substrate reduction therapy for the LSDs.  Dr. Kolodny has been a guest scientist at the Children’s Hospital, Boston and the Weizmann Institute of Science in Rehovot, Israel and is a Fellow of the American Academy of Neurology and the Medical College of Medical Genetics. Among his more than 250 publications is a description of Tay-Sachs disease among American Flamingos and currently his laboratory is studying the biochemistry and molecular biology of Tay-Sachs disease in sheep.