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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 …

The Genomics Landscape

CSER consortium ends after twelve years of groundbreaking research

In the October 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, reflects on the twelve years of groundbreaking research by the Clinical Sequencing Evidence-generating Research (CSER) consortium.

… lysosomal transmembrane protein whose mutation results in Niemann-Pick disease, type C1. A scientific symposium was held at …

News Release

NHGRI researchers to present talks, posters at ASHG annual meeting

NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.

… 2334F. Katherine Chao: Novel NPC variants causing severe Niemann Pick C deficiency. (Metabolic Disorders) Other Sessions …