Tackling the epidemic of metabolic disease with genomics and wearables: opportunities and challenges

Amit R. Majithia, M.D.

Associate Professor, Division of Endocrinology in the Department of Medicine, UCSD School of Medicine

Seminar Information

Seminar Series
Biomechanics & Medical Devices

Seminar Date - Time
February 24, 2023, 9:00 am
-
10 AM

Seminar Location
EBU II 479, Von Karman-Penner Seminar Room


Abstract

Our mission is to develop new ways to identify and treat people with insulin resistance—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.

Speaker Bio

Amit R. Majithia, M.D. is an Associate Professor in the Division of Endocrinology in the Departments of Medicine and at the UCSD School of Medicine. Dr. Majithia received his Bachelor’s degree in chemistry and physics from Harvard University and his M.D, from NYU School of Medicine. He is a clinically active endocrinologist with a life long passion for improving the life and health of people with diabetes and cardiometabolic diseases.

Dr. Majithia is a member of the teaching faculty in the Biomedical Sciences Graduate Program , the Bioinformatics and Systems Biology Program , the Genetics Training Program , and is an affiliate with the Division of Biomedical Informatics  at UC San Diego.

The Majithia Lab applies the tools of functional genomics, bioinformatics, and human genetics in a collaborative, multi-disciplinary research environment. We participate in several research centers including the UCSD-UCLA Diabetes Research Center, Altman Clinical and Translational Research Institute, and the Institute for Genomic Medicine as well as the Center for Engineering in Diabetes (CED) in the Institute of Engineering in Medicine .