Spracklen to Examine How Genetic Traits Influence Type 2 Diabetes Risk

Cassandra Spracklen, assistant professor of epidemiology, has received a 3-year, $409,659 award from the American Diabetes Association (ADA) to examine how the interaction of genetic traits in diverse populations may influence and predict the risk of type 2 diabetes. The award is part of the ADA’s Precision Medicine in Diabetes Initiative, which seeks to establish consensus on the viability and potential implementation of precision medicine in diabetes and determine what knowledge gaps need to be addressed to realize the potential for improved diagnosis, prevention, treatment, prognosis, and monitoring of all forms of diabetes.

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Genome-wide association studies have identified many DNA regions that affect whether an individual has inherited a high risk for developing type 2 diabetes (T2D); however, the specific ways by which DNA variants and genes influence that risk have not yet been identified. Spracklen will use human genome tools and datasets to pinpoint which specific DNA variant affects a given trait and what specific gene is being affected by that DNA variant.

An expert in genetic epidemiology, Spracklen will conduct a meta-analysis of genome-wide association studies conducted in diverse populations for T2D-risk factors. She will examine a variety of risk factors, including glycemic traits (fasting glucose, fasting insulin, HbA1c) and measures of obesity (BMI, waist-hip-ratio), in an effort toward a clearer characterization of T2D etiology.

“We hope that by identifying the DNA regions that affect both a T2D-related trait(s) and T2D will help us better understand T2D risk,” says Spracklen. “For example, a region associated with fasting glucose and T2D may suggest the variant is affecting glucose metabolism.”

This information could then be used to create a personalized score that can be incorporated into healthcare to predict a person’s risk for developing T2D, tailor prevention programs, and optimize T2D treatments based on each person’s unique genetic profile.

“As we better understand the mechanisms for T2D development,” says Spracklen, “we’ll be able to move the needle in a variety of ways: by improving individual T2D risk prediction (risk scores), prevention (identifying those most at risk), and treatment.”