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William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… skin and hair, as well as the lysosomal storage disorder Niemann-Pick disease, Type C. By integration of basic science … transmembrane protein, NPC1, whose mutation results in Niemann-Pick disease, type C1. … The Genomics, Development …
Staff
Dr. Randy Chandler is an associate investigator in the Organic Acid Research Section of the Metabolic Medicine Branch in NHGRI.
… methylmalonic acidemia (MMA), propionic acidemia (PA), and Niemann-Pick Disease, Type C1. His preclinical proof-of-principal … labs, he led efforts to develop AAV gene therapy to treat Niemann-Pick Disease, Type C1 disease, a rare and lethal …