Columbia Honors Research on the Genetics of Diabetes

NEW YORK, NY (November 24, 2014)—Columbia University Medical Center (CUMC) has presented Andrew Hattersley, DM, and Mark McCarthy, MD, with the 16th Naomi Berrie Award for Outstanding Research in Diabetes, for their work on the genetics of the disease. Their research has contributed to the discovery of new forms of the disease, improvements in diagnostic methodology, and the development of more effective treatments. The award, presented annually by CUMC’s Naomi Berrie Diabetes Center at its Frontiers in Diabetes Conference, is Columbia’s top honor for excellence in diabetes research.

“Over the past two decades, Drs. Hattersley and McCarthy have helped to greatly improve our understanding of the genetics of diabetes,” said Rudolph L. Leibel, MD, the Christopher J. Murphy Memorial Professor of Diabetes Research, co-director of the Naomi Berrie Diabetes Center, and chair of the award selection committee. “Together, they have led large-scale efforts that have uncovered dozens of genes associated with an increased risk of diabetes. Their work has transformed our understanding of the pathogenesis of both rare and common forms of diabetes and has led to novel clinical interventions.”

Dr. McCarthy’s work has focused on identifying genes that contribute to type 2 diabetes. He has played a prominent role in the development of genetic approaches, such as genome-wide association and next-generation sequencing, that have improved our ability to find new mechanisms for the causes of diabetes. Dr. McCarthy has co-led several international consortia, including DIAGRAM, ENGAGE, and the Wellcome Trust Case Control Consortium (WTCCC), that study type 2 diabetes using these techniques for large-scale genetic analysis. The WTCCC, the largest-ever genome-wide association study at the time of its publication in Nature in 2007, included 14,000 cases of seven common diseases. Dr. McCarthy’s approach of organizing large multi-institutional genetic studies that employ advances in technology and analytical methods has helped to identify more than 70 genetic sites associated with type 2 diabetes.

Dr. Hattersley’s work has focused on variations of diabetes that are the result of mutations in single genes. One of his most significant contributions was to help distinguish these monogenic forms of the disease from the type 1 and 2 variations that many patients had been misdiagnosed with. Working with colleagues worldwide, he helped to isolate 14 genes that cause these diabetes subtypes, including neonatal diabetes, pancreatic agenesis, and maturity-onset diabetes of the young. This research has improved patient care by enabling the creation of targeted drugs that can be used instead of injected insulin to treat monogenic diabetes conditions. Dr. Hattersley has collaborated extensively with Dr. McCarthy, with whom he co-leads UK research efforts into the genetics of type 2 diabetes.

Dr. Hattersley is a professor of molecular medicine at the University of Exeter Medical School and an honorary consultant physician with a special interest in diabetes and endocrinology at the Royal Devon and Exeter Hospital in Exeter, UK.  Dr. McCarthy is the Robert Turner Professor of Diabetic Medicine at the University of Oxford’s Centre for Diabetes, Endocrinology and Metabolism. Dr. Hattersley and Dr. McCarthy have both been elected fellows of the Royal College of Physicians, the Academy of Medical Sciences, and the Society of Biology in the UK.Together, their work on diabetes has been published in almost 1,000 peer-reviewed journal articles.

The Naomi Berrie Award for Outstanding Achievement in Diabetes Research was established by the Russell Berrie Foundation in 2000. The award promotes and rewards outstanding achievement in the field, while supporting the careers of promising young diabetes investigators. Each year, the recipient—a senior scientist outside Columbia who has made major contributions to diabetes research—is given $130,000 to support a two-year research fellowship for a student or research fellow in his or her laboratory. Drs. Hattersley and McCarthy will share this year’s prize.

For more information about the annual Frontiers Conference and a list of past award recipients, visit:http://nbdc.cumc.columbia.edu/frontiers.

Naomi Berrie Fellow in Diabetes Research Award Alberto Bartolomé, PhD, was presented with the 2014 Naomi Berrie Fellow Award, given annually to support a junior diabetes investigator at CUMC. The fellowship provides an opportunity for intensive training in a biomedical research laboratory and contributes $130,000 toward the fellow’s research program.

Dr. Bartolomé is a postdoctoral fellow in the laboratory of Utpal Pajvani, MD, PhD, assistant professor of medicine, studying Notch signaling, a pathway that is important in embryonic beta cell development. Beta cells are a type of cell present in the pancreas, which stores and releases insulin. Understanding the processes that influence beta cell function is central to understanding how diabetes develops. Dr. Bartolomé will investigate adult pancreatic beta cells, to determine whether Notch signaling continues to play a key role after their initial growth. Dr. Bartolomé’s research will help advance the development of new type 2 diabetes treatments that target Notch. Such drugs have already been shown to be successful in treating diabetic mice.

Russell Berrie Scholar in Diabetes Research Award Maria Caterina De Rosa, of Italy, and Rim Hassouna, PhD, of France, have won the 2014 Russell Berrie Foundation Scholar Award. They will share a $150,000 grant. The award was established in 2013 to enable international researchers to work for up to two years in laboratories affiliated with the Naomi Berrie Diabetes Center.

Ms. Rosa works in Dr. Leibel’s laboratory as part of her Italian PhD program. She is researching Ildr2, a gene that produces a transmembrane protein, which plays an important role in beta cell survival. Studies have shown that mice with reduced expression of the gene are more susceptible to non-insulin-dependent diabetes; an understanding of the molecular mechanisms involved should provide novel strategies for disease management and treatment.

Dr. Hassouna is conducting research in the laboratory of Lori Zeltser, PhD, an assistant professor of pathology & cell biology in the Naomi Berrie Diabetes Center. She is using mouse models to understand the drivers of childhood obesity. Dr. Hassouna’s studies will examine how mice that reach puberty sooner respond to early intervention strategies for obesity. This research may help confirm clinical observations that there is a limited window in childhood during which treatment can permanently improve obesity-related outcomes.

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