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Hermansky-Pudlak Syndrome Network, Inc.



Address

One South Road
Oyster Bay, NY 11771-1905

Phone

5169224022

Fax

5166240640

800 Number

8007899477


Description

The Hermansky-Pudlak Syndrome (HPS) Network is an advocacy organization for individuals and families affected by Hermansky-Pudlak syndrome. HPS is an autosomal recessive inborn error of metabolism characterized by albinism, visual impairment, and a bleeding disorder caused by dysfunctional platelets. Presently, the genes associated with HPS1 through HPS7 have been identified, and identification of more genes is expected. HPS1 and HPS4 involve pulmonary fibrosis, which can become life threatening by middle age. Granulomatous inflammatory bowel disease similar to Crohn's disease occurs in approximately 15% of individuals across all mutations. The HPS Network, established in 1992, is dedicated to networking individuals, physicians and researchers for the purpose of education and research. The network maintains a registry and creates educational materials and newsletters. Annual conferences, international meetings and presentations are among some of the outreach priorities. A cure is the ultimate goal.

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