Our lab investigates gene regulatory elements and their relationship to human diversity and disease.
Genes make up only 2 percent of our DNA. Within the remaining 98 percent lie other extremely important sequences that function as gene regulatory elements, instructing when, where, and at what levels to turn genes on or off. Mutations in these gene regulatory elements can have a significant impact on human diversity and disease. However, discovering them and understanding their function still remains a major challenge, one that our laboratory is working to resolve.
We are in the midst of revolutionary times, with novel DNA-sequencing technologies increasing our ability to sequence DNA at enormously rapid rates. Due to these advances, in the very near future individual genome sequences will be available at a relatively affordable price to the general public. This availability will have the most immediate impact on two major fields: pharmacogenomics and predicting human disease risk. However, although we have an understanding of the effect of nucleotide changes on coding regions (genes), we lack this knowledge in noncoding regions that comprise 98 percent of the genome. Our lab is working to characterize gene regulatory elements within this 98 percent and how nucleotide variation within them leads to phenotypes (observable traits) including pharmacogenomics and human disease.
The work of the Ahituv Lab is carried out at UC San Francisco, the leading university exclusively focused on health. We are in the ideal place to connect our genetic findings to the clinic. The lab is part of the Department of Bioengineering and Therapeutic Sciences, a joint department of the UCSF School of Pharmacy and the UCSF School of Medicine, and is a member of the UCSF Institute for Human Genetics, which serves as the hub for all genetics activities at UCSF.