Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Sections
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 …
The Genomics Landscape
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 …