We focus on advancing precision diagnosis and management of metabolic diseases.

Our research focuses on uncovering the genetic basis of metabolic diseases, both rare and common forms, and translating findings into clinical care. We interrogate genetic data to identify novel diabetes genes, subtypes, and mechanisms of disease. Our research involves analyzing large-scale patient genomic data including from the UK Biobank, the Mass General Brigham Biobank, the Type 2 Diabetes Knowledge Portal, and many other collaborations. We are also involved in identifying patients with atypical diabetes though the Rare and Atypical Diabetes Network (RADIANT) study, where we lead patient recruitment at MGH. We work closely with a vibrant and collaborative environment at Mass General Hospital and the Broad Institute.

1. RADIANT Atypical Diabetes study – This NIDDK/NIH funded clinical study is aimed understanding rare and atypical forms of diabetes. Our team leads recruitment at MGH and employs whole genome sequencing to improve understanding of causes and classification of diabetes.
2. Genetic subtyping of diabetes –We have pioneered the use of process-specific or “partitioned” polygenic scores to capture a person’s genetic risk for a given T2D disease process and have shown that these pPS are significantly associated with patient clinical phenotypes. Ongoing research is focused on using other forms of omics to further characterize genetic subtypes of diabetes. Additionally, we are interested in using electronic medical record data and machine-learning approaches to identify disease subtypes.
3. Translation of genetics to clinical care – We study how the full spectrum of rare to common genetic variation informs on individual disease risk as well as disease subtype and prognosis. Our research includes analysis of rare variants causing diabetes as well as polygenic scores, including those for type 1 diabetes, type 2 diabetes, and process-specific scores.