UW Medical Genetics and Psychiatry and Behavioral Sciences
Email: email@example.com | Phone: 206.543.3177
Our laboratory studies the genetics of neurobehavioral and neurodegenerative disorders. One focus is neurologic diseases caused by mutations in single genes. Examples of these disorders include cerebellar ataxias, spasticity, movement disorders, neuropathies and myopathies. A second main area of interest is the genetic basis of common and complex disorders, including dyslexia, and Alzheimer’s disease. We and other researchers have identified genes and DNA variants that cause some of these disorders. We are generating neuron cells from stem cells derived from patients with an unusual form of Parkinson’s disease so that we can study the steps that occur in the brain as the disease progresses and are creating iPSC models for other disorders. These projects may benefit patients in several ways: 1. A molecular diagnosis provides a “name” for the disease and stops the diagnostic odyssey; 2. Cellular models of disease allow investigations of effects of pathogenic variants on the function of the gene and its biochemical pathways; 3. Both gene identification and model generation are steps in the process to discover pharmacologic or other therapeutic interventions.