Aravinda Chakravarti, PhD

All human diseases have a significant genetic component, be they Mendelian or oligogenic or complex, which can today be dissected into its molecular components using experimental approaches, computational analyses and animal models. After playing a significant role in the human genome and sequence variation projects to build genomic resources for the scientific community, we have developed and used these approaches to understand the pathways dysregulated in human disease. We have largely focused on two classes of disease: (i) congenital disorders, such as Hirschsprung aganglionosis and autism spectrum disorders, where environmental factors are rare, and (ii) cardiovascular disease, specifically sudden cardiac death and essential hypertension, where environmental factors are common. Beyond discovering many of the genes underlying these complex disorders, we have made fundamental contributions to elucidating the genetic control of the enteric nervous system development and genetic control of heart rhythm. We have discovered that gene regulatory networks integrate the responses of functionally diverse genes to affect rate limiting steps in human disease.