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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 …
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 …