Amit Majithia Lab
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Insulin resistance is an important cause of type 2 diabetes, fatty liver, heart attacks, strokes, and cancer. We live in a world of “big data”, low-cost genomics, and real-time health monitoring — which promises new medicines and a more precise approach to individual treatment. While we have accumulated large genome-scale and now phenome-scale data, we are challenged by a lack of understanding at the level of individual genes and patients.
For example, hundreds of thousands of protein-altering human genetic variants have been identified in sequenced populations in almost every gene but we remain unable to interpret these “experiments-of-nature” to provide actionable clinical information to individuals or mechanistic insights on gene function for therapeutic development.
We propose to unlock these experiments of nature using massively parallel bioassays to functionally characterize variants prospectively, thus enabling a genotype:function:phenotype approach. This approach will guide research programs to discover new genes that can become drug targets and novel diagnostics that can individualize treatments.