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Niemann-Pick Disease Type C1 (NPC1)

Niemann-Pick disease type C1 (NPC) is a rare and fatal genetic disease. NIH launched a clinical trial in Jan. 2013 to evaluate a drug candidate called cyclodextrin as a possible treatment for NPC. At left, human fibroblast cells, homozygous for mutations in NPC1, demonstrate and increased accumulation of red Lysotracker staining indicative of the storage disease. At right, addition of cyclodextran rescues this lysosomal storage defect.

Date:January 23, 2013
Credit:National Human Genome Research Institute
Location:Division of Intramural Research, National Human Genome Research, NIH, Bethesda, MD
Dimensions:1414 x 577
File Size:923 Kb
Rights:PublicExcept where otherwise noted, this image is in the public domain and may be used, linked or reproduced without permission. If you use an image, please credit the source listed above with a link back to www.genome.gov where possible. Thank you!



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