News & Research

    The University of Chicago, Chicago, Illinois

National center for monogenic diabetes

General Research Subject: Both Type 1 And Type 2 Diabetes

Focus: Clinical Therapeutics/New Technology\Pharmacologic Treatment of Diabetes or its Complications, Genetics\Type 1 Diabetes, Genetics\Type 2 Diabetes

Type of Grant: Clinical Translational Research

Project Start Date: January 1, 2011

Project End Date: December 31, 2013

Funded by the State of Illinois

Research Description

Genetics studies of diabetes over the past 20 years have provided a better understanding of the heterogeneous nature of diabetes. It was initially thought that genetic forms of diabetes were very rare, but we now know that they are quite common, accounting for as much as 2-3% of cases or 750,000 people in the United States. These monogenic forms of diabetes have emerged as a model for the utility of genetics in diabetes and treatment of disease -- personalized medicine. In some cases the patients are able to be transferred from intensive insulin treatment to common pills for diabetes with an improvement in control and decreased complications of therapy. The goal of this application is to increase our knowledge of these forms of diabetes. We will accomplish this goal in part through the Monogenic Diabetes Registry that will lead to improved diagnosis and treatment, a better understanding of disease pathophysiology and prognosis, and the identification of new genes. These studies will change the standard of care for patients with diabetes leading to improved clinical outcomes and better quality of life.

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?

This work aims to improve our understanding of the genetics of diabetes, by studying families with individuals that have or who might have a mutation in a single gene that causes their diabetes.  Estimates are that 2-3% of everyone with diabetes has one of several mutations, so that between 500,000 and 750,000 individuals are directly affected. By uncovering such individuals, most of who are not diagnosed, we can optimize the treatment and prevent diabetes or its complications. In some individuals the cause of diabetes is not known. Our current knowledge indicates that most of the genes involved are critical for insulin secretion, so that a better understanding of how these genes work, and the discovery of new genes that cause diabetes, is likely to benefit most patients with diabetes in the future.

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

This project will directly impact a group of patients with single gene causes of diabetes. We will help with diagnosis of know genes and use that knowledge to help those people with targeted therapy. In others, where the gene may not be one of the known causes of diabetes, we will use state of the art sequencing techniques to attempt to identify them. We also be keeping track of all such families that come to our attention using a registry. This model of personal genetic medicine for diabetes is a window into the future for all diabetes care, and is likely to help us better understand how the insulin secreting cells work and fail in times of stress, such as when they cannot secrete enough insulin. These insights are useful for all patients with diabetes, as optimal insulin secretion is a key part of normal blood sugar control.

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

I have been involved with diabetes research for over 25 years. I started this career path both for personal reasons related to the science of metabolism and genetics, the dedication and success of my teachers, and problems related to diabetes in my own extended family. This award comes at a key time as we seek to develop a national strategy to identify genes that cause diabetes. We seek to apply this knowledge in a personalized genetic-based strategy for optimal treatment and perhaps prevention of diabetes especially in those at highest risk.

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

Diabetes mellitus results from a failure of insulin secretion, either partial or total. Part of the future of diabetes research is to better understand our genetic background that leads to the failure of beta cells in one person but not in another. One day all patients with diabetes or a family history of diabetes may choose to have all of their genes analyzed to determine their risk for diabetes, and whether there are strategies specific for them that could prevent or delay its onset. These studies will set the stage for that future.