Insulin producing β cells and susceptibility to the development of type 1 diabetes
Type 1 Diabetes (T1D) develops as a consequence of a combination of genetic predisposition and environmental factors. Combined these events trigger an autoimmune disease provoking local inflammation of pancreatic islets and progressive loss of β cells. Genome wide association studies uncovered >60 loci associated with T1D risk. Our group is studying the impact of T1D risk variants on β cell responses to immune stress through modulation of stimulus–responsive regulatory elements.
Regulatory networks of pancreatic neuroendocrine tumors.
Insulinomas are rare tumors originated from the pancreatic β cells. By combining molecular biology techniques, and bioinformatics analyses we are now unraveling cis regulatory networks driving tumor transition. These studies open to new understandings of the physiological balance that enable the maintenance of β-cell identity.
Development of bioinformatic tools
Our laboratory is implicated in the acquisition of new molecular genetics techniques and the development of software tools for the interpretation and integration of multiple types of genome-scale data. We develop and maintain the “Islet Regulome Browser”, an open access web tool allowing the visualization and integration of regulatory genomics data in human pancreatic islets.