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U of U researchers using genealogical data in search for diabetic kidney disease cure

U of U researcher.JPG
A researcher at the University of Utah conducts experiments as part of a study hoping to find therapies for diabetic kidney disease. (KUTV)

Utah's wealth of family history information has become a useful tool to researchers at the University of Utah studying ways to combat diabetic kidney disease.

Under the direction of Marcus Pezzolesi, scientists are mapping the DNA of dozens of families at high risk of rapid decline.

Diabetic kidney disease, which can result in the need for dialysis or a kidney transplant, is a complication affecting patients with both Type 1 and Type 2 diabetes.

Researchers believe they can identify genetic mutations that may predispose patients to their disease.

Genome sequencing has been around for years, but until recently was too expensive to be used extensively in research studies. Pezzolesi said:

"The cost to sequence a person's entire genome is right around $1,000, which makes those tests and those types of studies a lot more feasible than they were in the past."

Computers have advanced considerably as well, but Pezzolesi was drawn to the project by the opportunity to use the Utah Population Database, an initiative started by university researchers decades ago.

"They realized the value of genealogy information that was being maintained by the Utah Genealogical Society and they realized that by having that information they could identify unique pedigrees and unique families that had an increased risk," Pezzolesi said. "In those days they started to document that by hand and now it's digitized and we have access to it."

Once a genetic mutation or variant is identified, researchers can try to replicate the problem in rodents and develop therapies to suppress the problem DNA.

Ultimately Pezzolesi foresees a future in which doctors conduct genetic screenings that provide early warnings for disease, allowing for earlier intervention.

Talitha Day is among the study participants. Her family has dealt with diabetes for generations.

"I'm really excited to be a part of it," she said. "Of course I would do anything to help so I signed up right away."

Diabetes is among the most prevalent health problems in America. About 150,000 people in Utah have either Type 1 or Type 2 diabetes, Pezzolesi said.

As the pace of the research at the U and around the world increases, hope grows.

"I feel very confident that subsequent generations will benefit from the research that we're doing, and that may be only 10 or so years away, maybe sooner," Pezzolesi said.



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