TRANSLATIONAL MEDICINE IN INBORN ERRORS OF METABOLISM AND OTHER RARE GENETIC DISEASES

Our research focuses on inborn errors of metabolism (IEM), a major group of rare diseases affecting approximately 1 in every 800 newborns. Using a multi-omic approach along with functional genomics, we identify genetic defects associated with IEM. We have also been involved in developing small chemical drugs to rescue the activity of mutant proteins causing IEM. We have generated cellular models from patients and healthy hiPSC for preclinical evaluation of these therapies.