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Bartolomé Lab website

Beta cell mass is an important component of type 2 diabetes progression, lower beta cell mass is associated with reduced insulinaemia, glucose intolerance and diabetes. Beta cell mass is highly heterogeneous among human individuals, and currently there are no methods for its clinical determination. Genetic information that predicts this, could become a cost-effective tool for diabetes diagnosis, treatment and prevention strategies; a great potential clinical asset in that could allow stratification of diabetes patients in the era of personalized medicine.

The objectives of the group are to determine the genetic basis of beta cell mass, focusing in pancreas development, but also in processes that allow compensatory mechanisms in pathophysiological conditions (pregnancy, obesity, aging). To achieve this goal, we study type 2 diabetes genetic risk loci, and characterize the molecular mechanisms of their association to disease.

Our works involves the study of these genes and their effect on the proliferation of pancreatic progenitors. To achieve this goal, we are conducting gene loss-of-function approaches in pluripotent stem cells, that are later subjected to differentiation protocols to “mimic” human development. 

We also study novel genes and mutations putatively associated with monogenic diabetes, identified by clinical investigators. Since mouse models cannot recapitulate the phenotypes observed in human, we use differentiation protocols with human stem cells, and CRISPR/Cas9 techniques that allow genome editing. 

Our objective is to unravel the role of genetic variants on monogenic and polygenic diabetes. By the integration of GWAS, eQTL databases and “omics” from differentiation protocols. The long-term objectives will be to translate these findings into the clinic. Linking genetic information to pathophysiological events will bring us closer to the era of personalized medicine. More info: here.