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News Release
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 …
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 …
News Release
Principal investigator-mentors guide new scientists to their next chapter.
… He investigated ways to track the severity and onset of Niemann Pick Type C disease (NPC), a rare lysosomal storage disorder …
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 …
News Release
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 …