Finding the cure to Niemann-Pick disease

By Alexander Pan 

Researchers have discovered a way to cure Niemann-Pick disease, type C1, by targeting the root of the problem. This rare disease is caused by a mutated housekeeping gene, which cannot remove cellular debris. The waste accumulates to the extent that the nervous system is affected. As a result, progressive deterioration of the brain and motor functions ensue. In order to prevent such deterioration of the nervous system, researchers from the National Human Genome Research Institute used gene therapy to remove the mutated housekeeping gene called NPC1. Dr. Pavan, senior investigator of the NHGRI Disease Research Brand, nicely puts it, “the gene therapy is treating the root of the problem, the defective gene.” Researchers use the vector aden-associated virus stereotype 9 (AAV9) to move functional, wild type NPC1 genes to the cells. AAV9 can easily transport across various membrane barriers, including the blood-brain barrier, to disperse the functional gene to various regions of the organism. Mice were used as a model organisms to test gene this therapy treatment. With an injection of the AAV9, the mice improved their motor skills, maintained sufficient weight, and had longevity similar to that of normal mice. This preliminary work is promising, with hopes of testing the treatment on humans. Furthermore, this new approach to curing Niemann-Pick disease presents gene therapy as a viable method of treating other genetic diseases in the future.


NIH/National Human Genome Research Institute. (2016, October 26). Gene therapy shows promise for treating Niemann-Pick disease type C1. ScienceDaily. Retrieved November 6, 2016 from