PUBLIC RELEASE DATE:
18-Jun-2014
Contact: Karen Warmkessel kwarmkessel@umm.edu 41-032-889-194-104-041-53 University of Maryland Medical Center
BALTIMORE June 18, 2014. The National Institutes of Health (NIH) has awarded a four-year, $3.7 million grant to researchers at the University of Maryland School of Medicine to develop a personalized medicine program to help doctors diagnose and treat monogenic diabetes a form of diabetes caused by a mutation in a single gene. The study will evaluate methods to implement this program in various health care settings, with an objective to develop a model that could also be applied to caring for patients with genetic variations of other common diseases.
Inherited forms of diabetes, resulting from defects in HNF1A, GCK, HNF4A and a host of other genes, account for at least 1 percent or over 250,000 of diabetes cases nationwide. The actual number may be much higher because of the current challenges in correctly diagnosing those affected.
The two primary forms of monogenic diabetes are maturity-onset diabetes of the young (MODY), a form of non-insulin-requiring diabetes found in young, sometimes lean, people, and neonatal diabetes mellitus (NDM), diagnosed in infants under 6 months old. The majority of these individuals are misdiagnosed with type 1 or type 2 diabetes and may not be receiving appropriate treatment for their genetically-based disease, according to Toni I. Pollin, M.S., Ph.D., a University of Maryland genetics researcher and lead investigator on the study.
"Most health care professionals including endocrinologists and geneticists know little about genetic types of diabetes. When they are familiar with them, the high cost and limited availability of genetic testing, which is not always covered by insurance, are major impediments to diagnosing the condition correctly," says Dr. Pollin, associate professor of medicine and epidemiology & public health and member of the Program in Personalized and Genomic Medicine at the University of Maryland School of Medicine. "A recent study indicated that monogenic diabetes is only diagnosed correctly in about 6 percent of cases in the United States."
"This research will enhance our ability to identify and properly diagnose individuals and families with specific inherited forms of diabetes, tailor treatment to their diagnosis and identify other family members at risk for developing diabetes," Dr. Pollin says. "Correct and early diagnosis and treatment should improve blood sugar control and decrease life-threatening complications."
The most common forms of diabetes, type 1 and type 2, are polygenic involving multiple genes. Environmental and lifestyle factors, such as diet and activity level in the case of type 2 diabetes, often also come into play.
It is important for doctors to identify the specific type of diabetes in order to determine the most effective treatment. For example, patients with type 1 diabetes an autoimmune disorder that destroys insulin-producing beta cells in the pancreas require treatment with insulin for survival. Those with type 2 diabetes, who don't produce enough insulin or use it properly, typically receive metformin as a first-line treatment. For patients with certain forms of genetic diabetes, oral medications called sulfonylureas enable the patient to release his/her own insulin and are more effective and far less invasive than insulin injections in controlling blood sugar levels.
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U of MD researchers receive NIH grant to study personalized medicine for genetic diabetes