Rare form of diabetes being treated with new approach
By Jessica Reaves
November is Diabetes Awareness Month, and unfortunately, the need for heightened vigilance has never been greater.
More than 25 million Americans have diabetes, according to the latest statistics from the American Diabetes Association (ADA). Those numbers continue to climb, and the cost of treating so many patients is staggering: In 2007, the price tag stood at $174 billion. That’s for just one year.
While most patients with diabetes have either Type 1 (insulin dependent) or Type 2 (non-insulin dependent), there are other forms of the disease. Between 1 and 5 percent of patients have what’s known as monogenic diabetes, which is linked to a mutation in a single gene and is generally diagnosed in infants or, more frequently, young children.
Most people with monogenic diabetes can be treated with pills rather than insulin injections. But prescribing the correct course of treatment requires an accurate diagnosis, and many monogenic patients are initially misdiagnosed with Type 1 or 2. Most forms of monogenic diabetes are passed from parents to children, which makes identifying the disease—and testing of family members—particularly important. But because there is so little information available about the incidence, prevalence or demographics of monogenic diabetes, this tends to be very difficult, if not impossible.
Dr. Louis Philipson, director of the University of Chicago Kovler Diabetes Center, wants to change that. “The problem,” Philipson says, “is [that] too many healthcare practitioners don’t have the time or information they need to differentiate between various types of diabetes and the appropriate treatments.” He explains this is a result of time constraints and high patient volume.
Now, thanks to a grant from the ADA and the Juvenile Diabetes Research Foundation (JDRF), Philipson has taken a step toward closing that information gap. With his colleagues at the Kovler Center, Philipson, who is also a professor at the University of Chicago’s Pritzker School of Medicine, has recently established the National Registry for Monogenic Diabetes.
“Dr. Philipson competes with many outstanding researchers throughout the country, and through our peer-review process has been approved for funding,” said Elly Brtva, managing director of Individual Giving for the American Diabetes Association. “Our donors and our Research Foundation are delighted to support his work.”
The registry, Philipson says, will help researchers establish and trace the disease in as many patients as possible. He and his staff also hope to pinpoint more single-gene mutations linked to diabetes—an advance that will make screening more effective and help identify patients whose family members may also be at risk for the disease.
The research conducted on monogenic diabetes will benefit patients living with various types of the disease because all types of diabetes share common cellular pathologies.
Philipson says the Kovler Center is “a team of faculty and students and technicians, collaborating with scientists and researchers all over the country and around the world.”
The focus on the genetics of diabetes came into play only a few years ago,” Philipson says. “It has totally transformed my life and the way I work.”