Clinical Trials - Genetics - UChicago Medicine - Kovler

Clinical Trials – Genetics

Part of the history of diabetes research that began at the University of Chicago more than 100 years ago, genetic diabetes research at Kovler continues to advance our understanding of diabetes and how to treat it.

First Discovery of Genetic Mutations

From his work on the 1979 discovery linking diabetes to genetics, to his nomination for the prestigious 2009 Manpei Suzuki International Prize for Diabetes Research, DONALD STEINER, MD, now the A.N. Pritzker Professor in Biochemistry & Molecular Biology, has been pivotal to our understanding of diabetes genetics.

At the same time, PhD work by GRAEME BELL helped show that a key part of the insulin gene affected risk of type 1 diabetes.

Genetic Findings Offer Clues About Diabetes Causes and Potential Cures

From there, Dr. Bell and his team have been trailblazers in identifying errant genes related to diabetes, particularly maturity-onset diabetes of the young (MODY) and type 2 diabetes. He has been instrumental to the development of more finely-tuned ways to diagnose and treat diabetes based on a more complete understanding of the biological processes.

Genetic Finding Dramatically Improves Type 1b Diabetes

Louis Philipson, MD, PhD, Director of the University of Chicago Kovler Diabetes Center, has distinguished genetic research in the last half of this decade at Kovler with his work on a form of neonatal type 1 diabetes. In partnership with Peninsula University (U.K.), Dr. Philipson was a leader on one of the first teams of physicians in the US to use an innovative approach to treat this form of diabetes. Then, in 2007, he was the lead author of a study with new findings on 10 mutations in the insulin gene in patients with neonatal diabetes

This is the first time an insulin gene mutation has been connected to severe diabetes with onset during infancy.

The National Registry for Monogenic Diabetes

Now, with funding by a grant from the Juvenile Diabetes Research Foundation, Dr. Philipson, and his colleagues have established the first registry in the United States for neonatal diabetes.

The goal of this registry is to:

  • Help identify new and existing patients with monogenic diabetes
  • Provide a clearinghouse of information for individuals, their families and doctors about these syndromes
  • Keep track of patients with these mutations who are being treated with sulfonylureas
  • Help identify new genes responsible for diabetes


Genetic Testing

The Human Genetics Laboratory at the University of Chicago Medical Center is CLIA-approved. Scientists there test for the most common mutation in transient neonatal diabetes – uniparental disomy 6 (UPD6); and for mutations in the Kir6.2 (KCNJ11) and insulin genes.

Testing for mutations in Kir6.2 (KCNJ11), SUR1 (ABCC8) and various MODY genes is available through Athena Diagnostics, the University of Chicago Human Genetics Laboratory, the Exeter Diabetes Genetic Centre in the U.K., as well as other laboratories.


Genetic Analysis

NANCY J. COX, PHD, chief of Genetic Medicine, directs a research program to develop methods to identify genetic variation affecting complex traits. Although the primary research focus is on the development of methods that can be used for analyses of any complex trait, most of the methodology development has been driven by research conducted on type 2 diabetes.

Thus, all of the initial applications for new methods were in studies of type 2 diabetes. In addition to the research on type 2 diabetes, Dr. Cox’s research interests include other complex disorders such as type 1 diabetes, asthma, stuttering, and psychiatric disorders. She has identified many of the most important diabetes genes in work with Dr. Bell (Learn more).

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