Dr. Wiliam J. Pavan and his team at National Human Genome Research Institute (NHGRI) have established a novel diagnostic tool to predict time of onset for the rare neurodegenerative Niemann-Pick disease type C (NPC). The npc1 gene mutation leads to the lysosomal lipid storage disorder in neuronal tissue. Flowcytometric analysis of stained lysosomal structures in patient derived fibroblasts predicts the time of onset of the disease symptoms. This patent-pending technology is available for licensing and can be successfully applied as a prognostic assay for several lysosomal or autophagic defects and as a screening test for potential treatment methods.

For more NHGRI technologies available for licensing, please click: https://www.genome.gov/about-nhgri/Partner-with-NHGRI/technologies-available-for-licensing.

To learn about different neurodegenerative disease-related technologies invented at NIH, please click here.