Grant: Foundation Grant

The goal of this research is to understand how human genes are regulated. The human genome consists of 3 billion bases, only 1% of which encodes protein-this is the proportion to which the "genetic code" applies. A much larger fraction - up to 10% by some estimates - functions to regulate the protein-coding genes. The details of how regulatory DNA works are still opaque, and how it is read by DNA binding proteins has been called the "second genetic code" - the next frontier in human genetics. We aim to crack this second code by studying the proteins that bind DNA, how they work together, and what they do to turn genes on and off, on a global level. The results of our research will enable us to make sense of how genes work normally, how they are impacted by common genetic variants, and how disease-causing mutations influence genetic regulatory programs.