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William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… he studied the developmental genetics of mouse coat color pigmentation. Subsequently, Dr. Pavan joined NHGRI in 1994, … His primary areas of interest include the development and diseases of melanocytes, the cells responsible for pigmentation of skin and hair, as well as the lysosomal …
Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… of multiple genes and environmental factors. Complex diseases are also called multifactorial. Examples of complex diseases include cancer and heart disease. … A complex …
… Undiagnosed Diseases Program (UDP) Discovers a New Disease … Archive …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… that is part of a global effort to raise awareness of rare diseases. Several NHGRI staff members - Anastasia L. Wise, … studies have the potential to shed light on more common diseases in a perspective published February 22, 2017, in the … clinical director and director of the NIH Undiagnosed Diseases Program (UDP), offered other examples of rare …
Clinical Research
A study with the goal of finding the genetic cause of familial Mediterranean fever (FMF) and several novel and undiagnosed causes of autoinflammatory disease.
… Identifier: NCT00001373 . … Autoinflammatory diseases are a group of disorders characterized by seemingly … T-cells that are characteristic of autoimmune diseases. Some autoinflammatory diseases have been shown to be single-gene disorders of …