Amit Majithia

Faculty Status
Assistant Professor of Medicine and Pediatrics, Division of Endocrinology
(858) 822-0727
Bioinformatics and Systems Biology
Biomedical Informatics
Brief Research Description
Insulin resistance, functional genomics, pharmacogenetics, cardiometabolic disease, diabetes
Lab Description

Our goal is to identify genes causing insulin resistance in humans in order to find new therapeutic targets for diabetes and cardiometabolic diseases. Our approach to discovery is grounded in human genetics, clarified through systematic, high throughput experimentation in human cells, and calibrated by its relevance to clinical disease. We use massively parallel genome engineering to re-create mutations identified in patients and develop high-throughput assays to interrogate function in human cell models. We apply bioinformatics and statistics to make sense of this data integrating 1) human mutations, 2) cellular function, and 3) metabolic/glycemic phenotypes of the individuals who harbor them. Using this approach, we have discovered novel missense mutations that greatly increase risk for type 2 diabetes. As a complementary aim towards precision medicine, we develop tools for clinical genome interpretation powered by high-throughput experimental data.