Raphael Schiffmann, M.D., joined the Kimberly H. Courtwright and Joseph W. Summers Institute of Metabolic Disease as director Jan. 15, 2008. The Institute of Metabolic Disease is part of Baylor Research Institute, an affiliate of the Baylor Health Care System.
Dr. Schiffmann is a nationally and internationally recognized expert on neurogenetic disorders with a focus on lysosomal storage diseases. Prior to his appointment with Baylor Research Institute, Dr. Schiffmann worked at the National Institutes of Health (NIH) where he served as the Lead Investigator, directing the clinical research efforts of the Developmental and Metabolic Neurology Branch in the National Institute of Neurological Disorders and Stroke.
"We are looking forward to bringing Dr. Schiffmann on board with us at the Baylor Research Institute. He has a wide range of expertise that will make him a great asset to our team," said Michael Ramsay, M.D., president, Baylor Research Institute.
Dr. Raphael Schiffmann's is a leader in his field. His research on neurogenetic disorders has lead to many pivotal changes in therapy. He investigated the natural history, pathogenesis and treatment of Fabry disease, an inherited disorder of lipid catabolism. Dr. Schiffmann's research concluded with the approval of enzyme replacement therapy for this disorder by association with the European Union and many additional countries. He received the Merit Award from the National Institute of Neurological Disorders and Stroke (NINDS) for his contributions.
Currently, Dr. Schiffmann is testing innovative therapies for Gaucher disease, a rare chronic disorder of cerebroside metabolism, and its response to enzyme replacement therapy. He also discovered three new leukodystrophy syndromes including Childhood Ataxia with Central Nervous System Hypomyelination (CACH) which is recognized as one of the most common leukodystrophies.
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