Genetics & Epidemiology

How We're Advancing Care

Utilizing access to the very large population of patients at the Joslin Clinic and their relatives, investigators in this section aim to unravel the etiology of diabetes and its late complications. The section's major focus is on the genetic determinants, environmental risk factors, and natural history of the disease processes underlying the development of late diabetic complications such as nephropathy and cardiovascular disease and genetics of Mature Onset Diabetes of the Young (MODY).

Over the last 25 years multiple cross-sectional and longitudinal studies have been conducted involving 3,000 patients with type 1 diabetes and 3,000 with type 2 diabetes. In addition to clinical datasets, biobanks of blood, and urine specimens were established for each of these patients. The investigators use the biobanks and high-throughput technologies to determine genetics, proteomics, and metabolomics profiles of patients who were selected for specific studies. The data are analyzed using sophisticated epidemiologic, genetics and bioinformatics methods.

Recent Accomplishments

• Identified a novel susceptibility locus for coronary heart disease through the first CHD GWAS specifically directed to diabetic patients. JAMA 2013.
• Discovered APPL1 as a new MODY gene, pointing to this molecule as a potential target for future treatments to prevent diabetes. Am J Hum Genet 2015.
• Discovered that levels of circulating TNFR1 and TNFR2 are reliable predictors of time to onset of end stage renal diseases in T1D and T2D. J Am Soc Nephrol 2012.
• Identification of specific miRNAs predicting rapid progression to ESRD in T1D. Diabetes 2015.