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5:04 video

In a unique twist on human genomics studies that seek to identify genetic variants linked to human disease, researchers have combined whole-exome sequencing of 50,726 adults with the individuals' long-term electronic health record (EHR) data. The effort, by researchers at the Geisinger Health System in Pennsylvania and Regeneron Genetics Center, a subsidiary of New York-based Regeneron Pharmaceuticals, has yielded novel disease-linked variants, including loss-of-function alleles. The team behind the project, called DiscovEHR, has also found that about one in 30 of the individuals harbors a deleterious genetic variant for which a screen or treatment already exists. The group's analysis is described in two papers published today (December 22) in Science.

3:16 video

webpage tutorials with check for understanding

3:33 minute video

start at 4:00 human genome project translation target rare diseases with gene therapy: 1)Leber's congenital amaurosis- blindness 2) congenitaal AADC deficiency- enzyme responsible for movement 3)  Muscular Dystrophy- Pompe Disease

A package of papers investigates the functional regulatory elements in genomes that have been obtained from human tissue samples and cell lines. The implications of the project are presented here from three viewpoints. 

wide array of interactives, suitable for homework, remediation or interactive stations