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 dea
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Contact: Jane Salomon
jsalomon@genetics.faseb.org
303-228-8575
American Society of Human Genetics
25-Oct-1998