One of the most frustrating aspects of treating children with type 1 diabetes (T1D or juvenile diabetes) is not knowing what, where, or how exactly the disease develops. When the origins of any disease are known, treatment options can be made more effective, prevention methods can be developed, and cures can be achieved. A new genetic discovery from the University of Florida (UF) may prove to be so important it’s already being called a “game changer” for T1D.
Dr. Patrick Concannon, director of the UF Genetics Institute, led the study that started out quite like the search for a needle in a haystack. He and his research team started their mission with 200,000 possible locations within the human genome thought to be involved with T1D development. They looked for individual changes — single nucleotide polymorphisms (SNPs) — in the DNA patterns at all 200,000 sites.
The process of identifying gene variants within the genome is called fine mapping. The Florida researchers conducted fine mapping of all suspicious points in the DNA of 27,000 people, some of whom were T1D patients but others were not.From 200,000 possibilities, the research team narrowed the search down to mere thousands. From thousands, the hunt for SNPs grew even smaller, finally down to five or fewer.
Now that Concannon’s team has narrowed the T1D origins down to a mere handful of genetic possibilities, they’ve taken a lot of educated guesswork out of T1D research. Other T1D researchers now have the luxury of fine-tuning their work, focusing on just the relevant genes. “We’ve taken this genetic data which was interesting but hard to work with and we’ve condensed it down into something that people can actually use to begin to explore the mechanism of the disease,” said Concannon.
Approximately 3 million people in the United States have T1D. It develops during infancy or childhood and, since there is no cure at this time, the disease remains with the patient for the rest of his or her life. Type 1 diabetes is a form of immune system dysfunction that causes the body’s immune system to destroy cells in the pancreas that produce insulin. What triggers the disease is currently unknown but most experts suspect a combination of genetics and environmental factors work together to cause disease.
Todd Brusko hails the Concannon discovery. Brusko is an assistant professor in the department of pathology, immunology, and laboratory medicine at the UF College of Medicine and is a member of the UF Diabetes Institute.
According to Brusko, “researchers can now shift away from trying to determine which genes heighten the risk” for T1D and focus instead on how these SNPs alter immune cell activity. Doing so “could eventually lead to new treatments that prevent or stop T1D.” He suggests the Concannon discovery will someday make it possible “to tailor treatments to correct underlying defects in the immune system that allow for autoimmune disease development,” such as T1D.
Type 1 diabetes is just one of many autoimmune diseases children face. Experts familiar with the Concannon research expect this breakthrough on T1D may help pinpoint the origins of other autoimmune diseases, too.
- "Genetics breakthrough by the group that includes University of Florida expert will boost diabetes research." UF / News. University of Florida, 9 Mar. 2015. Web. 19 Mar. 2015.
- JDRF (Juvenile Diabetes Research Foundation). JDRF, n.d. Web. 19 Mar. 2015.