Raphael Schiffmann

Baylor Scott & White Health, USA

Raphael Schiffmann, M.D., M.H.Sc. was the Director of the Institute of Metabolic Disease and is Clinical Professor at the Texas A&M University Medical School. He completed his medical degree at the University of Liege in Belgium and holds a Master’s degree of Health Sciences in Clinical Research from Duke University. Dr. Schiffmann was a clinical fellow and then the lead investigator at the Developmental and Metabolic Neurology Branch, National Institute of Neurological Disease and Stroke, National Institutes of Health of Health, in Bethesda, Maryland between 1991 and 2007.


The main objective of Dr. Schiffmann’s research is to study the mechanisms of a number of rare diseases and help develop novel therapies for them. His research primarily focuses on neurometabolic diseases and in particular lysosomal storage diseases and leukodystrophies.  He investigated the natural history, pathogenesis and treatment of Fabry disease, including pivotal studies that lead to the approval of enzyme replacement therapy for this disorder in 45 countries and the pharmacological chaperone migalastat that is now approved in Europe, Japan, Canada and in the USA. He also investigated the pathogenesis of the neurological and neuropathological aspects in neuronopathic Gaucher disease and its response to enzyme replacement therapy and substance reduction therapy. His studies on the neurogenetics of mucolipidosis type IV confirmed the clinical and biochemical homogeneity of this disease that provided an important step toward identifying the mucolipidosis IV gene.  He described three novel leukodystrophy syndromes including Childhood Ataxia with Central Nervous System Hypomyelination (CACH; vanishing white matter disease; eIF2B related disease), 4H Syndrome, and identified the etiology of Cree Leukoencephalopathy. He also performed a randomized controlled trial in adult polyglucosan body disease (APBD). Dr. Schiffmann has authored 266 peer-reviewed publications, 24 reviews and book chapters.