American Society of Human Genetics Annual Meeting
Colorado Convention Center, Denver
October 27-31, 1998
Room A108

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 death and epilepsy. Drs. Pennachio and Myers from Stanford University will discuss the work that will appear in the November issue of Nature.

Friday, October 30, 1998, 12:00 Noon.
The Role of a Tau Mutation in Dementia and Parkinsonism. The second most common cause of dementia, following Alzheimer's disease, is frontotemporal dementia. The Tau protein has long been thought to be involved in both forms of dementia (frontotemporal and Alzheimer's) because Tau protein is found in the tangles that are characteristic of Alzheimer's. Now a mutation has been found in the Tau protein in families with frontotemporal dementia that abolishes Tau's ability to bind to microtubules, filaments that structurally support axons. This role for Tau in neurodegeneration is thought to be the key event in the pathogenesis of frontotemporal dementia. Drs. Dumanchin and Heutink from G�n�tique Mol�culaire, Rouen, France and the Depts. Clinical Genetics and Neurology, Erasmus University in the Netherlands will present their findings.

Friday, October 30, 1998, 4:00 PM.
The Connection Between Colon and Endometrial Cancers. Double primary cancers of the colon and endometrium likely result from defects in a mismatch repair gene. Individuals with hereditary nonpolyposis colorectal cancer HNPCC often have a defect in a mismatch repair gene. Since endometrial cancer is the second most common type of cancer in these patients, and occurs in 22-43% of individuals who carry this gene mutation, they examined alterations in two mismatch repair genes. Mismatch repair mutations were found to be extremely common among individuals with double primary cancers of the colon and endometrium, conferring a significantly increased risk for HNPCC. Drs. Millar and Bharati from the Department of Pathology and Laboratory Medicine , Mount Sinai Hospital, Toronto, will discuss their findings.