Niemann-Pick Diseases study with WGS data on dbGaP (120 participants)

phs003214 — NPC Genome Project

<p>Niemann-Pick disease, type C1 (NPC1) is neurodegenerative disorder due to pathological variants of <a href="https://www.ncbi.nlm.nih.gov/gene/4864">NPC1</a>. NPC1 is predominately a pediatric/adolescent disorder, although adult onset cases have been described. The NPC1 protein functions to move unesterified cholesterol from the endolysosomal lumen to make it bioavailable for cellular function. Impaired NPC1 function results in endolysosomal accumulation of unesterified cholesterol and other lipids. The NPC1 phenotype is extremely heterogeneous, both with respect to age of onset and sign/symptom complex. Comparison of individuals homozygous for the common p.I1061T variant and affected siblings suggests that other genes can significantly modify the clinical phenotype. The goal of this project is to obtain genome sequencing on ~200 individuals with NPC1 in order to facilitate identifying potential genetic modifiers. </p>