Understanding regulatory variation in human diabetes

It has recently become apparent that a major fraction of the human genome contains functional regulatory elements. Several studies have demonstrated that sequence variation in noncoding genomic elements can cause Mendelian disorders, and it is widely thought that these noncoding elements are critically important for susceptibility to common complex diseases. Professor Ferrer aims to provide tools to understand how noncoding variants disrupt regulatory functions that cause Mendelian diabetes or type 2 diabetes susceptibility. He will also aim to exploit human genetics to discover novel genome regulatory mechanisms, in analogy to how genetics has revealed unanticipated protein functions underlying beta-cell development and function.