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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 …