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Press Releases
NIH Scientists Identify Gene for Fatal Childhood Disorder, Niemann-Pick Type CThursday, July 10, 1997Bethesda, MD -- After decades of work, scientists at the National Institutes of Health have identified a gene alteration associated with the fatal childhood cholesterol disorder Niemann-Pick type C (NPC). Learning how the gene functions may lead to the first effective treatment for the disease and to a fundamental new understanding of how cholesterol is processed in the body.
Scientists Link Fatal, Cholesterol-Storage Disorder to Chromosome 18Monday, March 01, 1993Scientists at the National Institute of Neurological Disorders and Stroke (NINDS) have linked a deadly brain disorder, called Niemann-Pick Type C disease, to a small region of human chromosome 18. These findings, reported in the current issue of Proceedings of the National Academy of Sciences,* may eventually lead to improved diagnosis and treatment for this inherited disorder and yield new insight into the metabolism of cholesterol inside the body's cells.
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