Our team’s research aims to identify molecular subtypes of type 2 diabetes in order to improve patient management. We interrogate genetic data across the spectrum from rare to common variation to identify novel diabetes genes and mechanisms of disease. At the rare end of the spectrum, we are part of a U54 through the NIDDK to better characterize atypical forms of diabetes using whole genome sequencing and physiological testing. At the common end of the spectrum, we are interested in leveraging the hundreds of common genetic variants identified through genome-wide association studies to identify pathways causing disease. We have employed variant-trait association clustering to identify pathways and developed pathway-specific polygenic scores to investigate how mechanistic pathways impact patient outcomes. Our research involves analyzing large-scale patient genomic data from the UK Biobank, the Mass General Brigham Biobank, and the Type 2 Diabetes Knowledge Portal. Our team participates in the ClinGen Monogenic Diabetes Expert Panel and studies the role of genetic testing in clinical practice and how to improve upon the current standard of care in endocrine clinical genetics.
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