Human Genome Analysis, Disease Pathophysiology and Genetic Medicine |
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Launch in standalone player | |
Air date: | Wednesday, January 28, 2009, 3:00:00 PM |
Category: | Wednesday Afternoon Lectures |
Runtime: | 60 minutes |
NLM Title: | Human genome analysis, disease pathophysiology, and genetic medicine [electronic resource] / Aravinda Chakravarti. |
Series: | NIH director's Wednesday afternoon lecture series |
Author: | Chakravarti, Aravinda. National Institutes of Health (U.S.) |
Publisher: | [Bethesda, Md. : National Institutes of Health, 2009] |
Other Title(s): | NIH director's Wednesday afternoon lecture series |
Abstract: | (CIT): The Human Genome Project has been instrumental in creating reference datasets, of DNA sequence, genetic variation, expression and rudimentary function, that have begun to provide an unprecedented view of genome structure and function. Increasingly, however, datasets of the same magnitude and breadth are being assembled from individuals with specific disease phenotypes and medically relevant intermediate traits. These studies are not only providing important clues to the underlying disease susceptibility genes but also how alterations in genome structure may affect genome function. Numerous studies are not only providing specific hypotheses regarding disease pathophysiology that need to be tested but is raising the specter of individualized risk assessment. The success of the first area is assured even though progress in the second area may require considerably more development to enable a personalized genetic medicine. |
Subjects: | Genetic Diseases, Inborn--genetics Genetic Predisposition to Disease |
Publication Types: | Government Publications Lectures |
Download: | Download
Video How to download a Videocast |
NLM Classification: | QZ 50 |
NLM ID: | 101496172 |
CIT File ID: | 14877 |
CIT Live ID: | 7029 |
Permanent link: | http://videocast.nih.gov/launch.asp?14877 |
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Enhanced Audio Podcast | 1:09:05 |
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Enhanced Video Podcast | 1:09:05 |