The University of Chicago has been at the forefront of diabetes research for more than 100 years. In 1907, we developed techniques that allowed scientists, for the first time, to see beta cells in the pancreas – the cells that produce insulin. In 1965, Donald Steiner, MD, was the first to discover the proinsulin molecule, paving the way for the first synthetic insulin that diabetic patients use today.
Hundreds of other studies and discoveries at the University of Chicago helped to build on the world’s knowledge of diabetes. In the 1990s, we made a major leap forward in monogenic diabetes by identifying four of the five known genes linked to MODY. The discovery made international headlines when it was published by the researchers involved – Graeme Bell, PhD; Nancy Cox, PhD; and Kenneth Polonsky, MD, now Dean of the University of Chicago Medical Center.
In 2007, Drs. Bell, Steiner, Cox and Louis Philipson, MD, PhD, Director of Kovler Diabetes Center, along with Siri Greeley, MD, PhD, and others, discovered a new series of insulin gene mutations that cause permanent neonatal diabetes. After treating one of the first patients in the country with neonatal diabetes due to a mutation in the KCNJ11 gene that allowed her to be switched from insulin to oral sulfonylurea therapy, since 2006 Drs. Bell, Philipson and Greeley subsequently treated similar patients from across the country who came to Chicago or whose doctors consulted them for advice. This lead to the creation of the first national registry for neonatal diabetes which quickly grew to include hundreds of patients with diabetes that was diagnosed under a year of age. Since 2010, the registry was expanded to include MODY patients as well, with a total enrollment of patients and family members exceeding 1200 by the end of 2011. The national Kovler Monogenic Diabetes Registry will thus facilitate our efforts to increase our understanding of these relatively rare forms of diabetes, including the genetics, treatment, and associated features. In addition to providing advice to treating clinicians and raising awareness among health professionals, we have also been facilitating the interaction of patients and family members in a vibrant and supportive online community.