2 December 2009 at 13:00, room no. 100, Sackler building, Sackler Faculty of Medicine

Nadav Ahituv
Department of Bioengineering and Therapeutic Sciences and Institute for Human Genetics, University of California, San Francisco, CA 94143, USA

Finding function in ‘Junk DNA’

Abstract

Research in our laboratory focuses on understanding the role of regulatory sequences in human biology and disease. Through a combination of comparative genomic strategies, regulatory element analysis, human patient samples, and mouse and fish genetic engineering technologies, we are working to elucidate mechanisms whereby genetic variation within these sequences lead to changes in human phenotypes. The research focuses on three clinically relevant phenotypic categories. The first is monogenic disease, using limb malformations, the second most common form of human congenital abnormalities (prevalence of 1 in every 500 births), as a model. The second is complex disease, analyzing how nucleotide changes in regulatory sequences contribute to obesity. The third is pharmacogenomics, characterizing how genetic differences in regulatory sequences, with a focus on regions surrounding membrane transport proteins, lead to clinical variation in response to drugs. In addition, by both deconstructing known regulatory elements and constructing de novo ones, we are attempting to gain a better understanding of the functional properties of gene regulation.