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Genetics and Epidemiology

By taking advantage of access to the large population of patients with diabetes who attend the Joslin Clinic, the investigators in this section aim to elucidate the etiology of diabetes and its late complications.

Through natural history studies of cohorts of patients and their families, they seek to discover the disease processes (both genetic determinants and environmental risk factors) underlying the development of diabetes and its late diabetic complications. The major areas of focus are nephropathy and cardiovascular disease and the genetics of MODY.

To carry out this research, the investigators use sophisticated study designs to generate large patient databases that contain genetic, genomic and proteomic characteristics in addition to clinical observations and apply the sophisticated analytical methods of modern epidemiology and human genetics.

An addition area of focus is the clinical management of pediatric type 1 diabetes. It includes studies of acute complications, assessment of new therapeutic technologies, clinical outcomes research; and the design and evaluation of behavioral interventions.

Recent “highpoints”:

• Further characterization of early progressive diabetic nephropathy and demonstration of its uncoupling from microalbuminuria/proteinuria (JASN 2008, KI 2010). These observations have major clinical implications for the diagnosis of patients at risk of diabetic kidney complications and for monitoring the impact of therapeutic measures on outcomes.

• Identification of four novel genetic loci (chr.7p, 9q, 11p and 13q) for susceptibility to diabetic nephropathy through GWAS approach (Diabetes 2009). Two of the loci have been confirmed in multiple studies. These findings provide a foundation for search for new susceptibility genes and pathways.

• Identification of synergism between poor glycemic control and a locus near CDKN2A/2B on chromosome 9p21 in determining the risk of coronary artery disease in type 2 diabetes. This finding points to a possible convergence of high glucose and the 9p21 locus on atherogenic pathways involved in the control of the cell cycle and proliferation. Translationally, this discovery will help the design of more effective interventions against heart disease in diabetes (JAMA 2008).

• Discovered BLK (a non-receptor tyrosine-kinase of the src family of proto-oncogenes) as a new MODY gene. It is involved in the regulation of insulin synthesis and secretion. This protein now becomes a potential target for the development of new therapeutic agents (PNAS 2009).

• Demonstrated an important link between continuous glucose monitoring use and improvements in glycemic control measured as A1c in pediatric and adult patients with type 1 diabetes (NEJM 2008, Diab Care 2009).

Page last updated: August 21, 2019