Incontinentia Pigmenti International Foundation
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Press Release regarding IP mutation discovery, May 24, 2000 HOUSTON--The discovery of the gene that causes a rare disorder affecting the skin, hair, nails, teeth, eyes and nervous system in females should help prevent it from being mistaken for illnesses with similar features. Researchers at Baylor College of Medicine in Houston, in collaboration with an international team, identified the gene on the X chromosome that causes incontinentia pigmenti (IP). Their findings are published in the May 25, 2000 issue of the journal Nature. IP could serve as a model for other human diseases because NEMO activates a key cellular pathway that influences growth, development, immune responses and other functions in the body. Shutting down this pathway results in a variety of problems seen in patients with IP. The Baylor team collaborated with scientists in France, Germany, Italy and the United Kingdom. Their study was funded by the National Incontinentia Pigmenti Foundation, headed by Susanne Emm