American Society of Human Genetics Annual Meeting
Colorado Convention Center, Denver
October 27-31, 1998
Thursday, October 29, 1998, 11:00 AM
Clinical Applications of Microarray Technology: Microarray Technology is a very new methodology for analyzing large numbers of genes at once. Two groups speaking in the Plenary Session have applied the technique to 2 different areas that are in need of mass screening. A group at the NHGRI has used it to decipher the pathophysiology of Niemann-Pick disease, and finds that a component of the myelin sheath is involved in disease pathogenesis. The other group, a collaboration between people at the NHGRI, in Finland and in Switzerland has combined microarray technology with FISH to examine the tissues of patients with prostate cancer. They've identified some of the genetic factors responsible for disease progression. Drs. Stephan and Bubendorf will be on hand to explain their findings.
Thursday, October 29, 1998, 12:00 Noon.
Round Table Discussion in Room A110 with Dr. Francis Collins, Director, National Human Genome Research Institute, NIH, Bethesda, Maryland.
Friday, October 30, 1998, 11:00 AM.
Cystatin-B Deficiency as the Cause of Epilepsy: The genetic etiology of many forms of epilepsy are currently under investigation. One of these, myoclonus epilepsy of the Unverricht-Lundborg type (EM1), which manifests clinically as severe myoclonic seizures and progressive neurologic dysfunction, is associated with the cystatin B gene on chromosome 21. Although the role of cystatin B in the pathophysiology of epilepsy has been a mystery, mouse models have shed some light on this curious connection. Mice that are deficient in cystatin B show the same symptoms of epilepsy as humans and have profound evidence of apoptosis in their cerebellum. Thus, cystatian B, a cysteine protease inhibitor, plays a role in preventing apoptosis. Its absence results in cell dea
Contact: Jane Salomon
American Society of Human Genetics