Physician Investigator (Cl)
Mass General Research Institute
Professor of Neurology
Harvard Medical School
Massachusetts General Hospital
adrenoleukodystrophy; atp-binding cassette transporters; hereditary central nervous system demyelinating diseases; hereditary sensory and autonomic neuropathies; leukodystrophy metachromatic; nerve fibers myelinated; rare disease; rare diseases; rare neurological disorders; serine c-palmitoyltransferase; sphingolipids; sphingosine
My expertise lies in neurogenetics and translational neuroscience. The topic of my research is unraveling the disease mechanisms of monogenetic disorders affecting the nervous system. This allows my lab to explore the relationship of mutant genes to specific biochemical defects and their contribution to neurodegeneration. As director of the leukodystrophy service at MGH I see patients with a variety of neurogenetic disorders and am actively studying abnormal accumulation of lipids such as very long chain fatty acids and desoxysphingoid bases in both my clinic and my laboratory. My clinical research studies have defined disease progression in adrenoleukodystrophy, metachromatic leukodystrophy and Tay Sachs Disease. Recently we were able to show that levels of desoxysphingoid bases in mice and humans with an inherited form of neuropathy contribute to disease and can be lowered by supplementation with L-serine.