Phillip Chance, M.D. Professor of Pediatrics and Neurology Research Affiliate, Center on Human Development and Disability Coordinator, Research Emphasis Area on Joubert Syndrome pchance@u.washington.edu 206-616-3787 University of Washington, Box 356320 Seattle, WA 98195-6320

Dr. Chance's research focuses on determining the molecular basis of inherited neurological disorders, including demyelinating neuropathies, motor neuron disease, and cerebellar malformation syndromes. He uses linkage analysis studies and molecular cloning methods to locate the genes of interest and lay the foundation for understanding the molecular and biochemical abnormalities that lead to the disorders. One project involved isolating the gene responsible for hereditary neuralgic amyotrophy, a disorder that appears at birth or in childhood and is associated with recurrent episodes of pain and paralysis in the shoulder and arm area that may lead to permanent residual neurological damage in the affected limb.

Chance’s laboratory identified the NPHP1 gene as causative in a subset of children with Joubert syndrome, particularly those with a specific form of kidney disease known as juvenile-onset nephronophthisis. A large-scale effort screened DNA samples from children with Joubert syndrome to test for mutations in NPHP1 and AHI1. These two genes may account for only 10–15% of children with Joubert syndrome, so efforts to find disorder-causing genes for Joubert syndrome continue.

CHDD Outlook article on hereditary neuralgic amyotrophy (HNA)

CHDD Outlook article on Joubert syndrome

University of Washington • Center on Human Development and Disability Box 357920 • Seattle WA 98195-7920 USA • 206-543-7701 •chdd@u.washington.edu

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