Research in the Ahituv lab 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, using a combination of computational and functional studies, we are attempting to gain an increased understanding of the gene regulatory code.