Research Database
Using the genetic architecture of glycemic traits and obesity to elucidate the mechanisms underlying type 2 diabetes development and predict personal T2D risk
Cassandra N, PhD
Institution:
University of Massachusetts, Amherst
Grant Number:
11-22-JDFPM-06
Type of Grant:
Clinical
Diabetes Type:
Type 2 Diabetes
Therapeutic Goal:
Prevent Diabetes
Project Date:
-
Project Status:
active

Research Description

Genetic studies have identified many DNA regions that affect whether an individual has inherited a high risk for developing type 2 diabetes (T2D); however, most of these findings are not yet being used to in our healthcare to treat or prevent disease. Within most of these DNA regions, the specific ways by which DNA variants and genes influence T2D risk have not yet been identified. The purpose of this project is to use genetic studies of traits related to T2D risk (such as fasting glucose and body mass index) in diverse populations to identify DNA regions that affect these specific traits and compare the results with DNA regions know to influence T2D risk. Identifying DNA regions that affect both a T2D-related trait(s) and T2D will help us better understand how the DNA regions are working to impact T2D risk (e.g., a region associated with fasting glucose and T2D suggests the variant(s) affect glucose metabolism). Human genome tools and datasets will then be used to pinpoint which specific DNA variant affects a given trait and what specific gene is being affected by that DNA variant. This information can 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.

Research Profile

What area of diabetes research does your project cover? What role will this particular project play in preventing, treating and/or curing diabetes?

My research focuses on the genetics of type 2 diabetes. Specifically, the purpose of this project is to use genetic studies of traits related to type 2 diabetes risk (such as fasting glucose and body mass index) in diverse populations to identify DNA regions that affect these specific traits and compare the results with DNA regions know to influence type 2 diabetes risk. Identifying DNA regions that affect both a T2D-related trait(s) and T2D will help us better understand how the DNA regions are working to impact T2D risk (e.g., a region associated with fasting glucose and T2D suggests the variant(s) affect glucose metabolism). Human genome tools and datasets will then be used to pinpoint which specific DNA variant affects a given trait and what specific gene is being affected by that DNA variant. This information can 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.

If a person with diabetes were to ask you how your project will help them in the future, how would you respond?

I am trying to determine what DNA variants people have that make them more or less likely to get type 2 diabetes. Ultimately, we want to be able to predict how likely a person is to get type 2 diabetes and try and intervene earlier in their lives to prevent (or delay) disease development.

Why important for you, personally, to become involved in diabetes research? What role will this award play?

I have a very strong family history of type 2 diabetes, and over ten members of my extended family currently have either type 1 or type 2 diabetes. Because of my personal ties to the disease, I have a strong interest in studying how we can prevent and treat the disease. This award will play a large role in my current and ongoing research efforts. It will help me to jumpstart the research proposed and allow me to hire two new graduate students who will be able to work on this research and begin making progress on better understanding the genetics underlying type 2 diabetes.

In what direction do you see the future of diabetes research going?

Diabetes research is going in several directions, including trying to identify a cure. Researchers are also trying to figure out the mechanisms for why some individuals develop diabetes and not others, and they are trying to predict who is and is not going to get the disease. Researchers are also focusing some efforts on trying to identify who is most at risk for diabetes-related complications.