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NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… method for correcting the single faulty gene that causes Niemann-Pick disease, type C1 (NPC1). The gene therapy involved … Oct. 26, 2016, in the journal Human Molecular Genetics . Niemann-Pick disease is a rare and fatal disorder of the …
Staff
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 …
Profile
Dr. Pavan looks back on his career at NHGRI, highlights pivotal moments and shares his future plans in artistic woodworking and community mediation.
… to hair and skin, and a rare genetic condition called Niemann-Pick disease type C. Dr. Pavan’s notable achievements include … NPC1, and found that variants of the gene results in Niemann-Pick disease type C. In a conversation with science …
Clinical Research
The CLINSEQ® Study seeks to learn about the role that your genes play in your health.
… incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively …