JDRF-Funded Study Identifies New Gene that Causes T1D Complications

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A study in the journal Nature Genetics has identified a new gene that causes chronic kidney disease (CKD), along with 26 other genes that have a presumed causal relationship.

In one of the first and most extensive studies of its type, researchers led by a team at the University of Pennsylvania examined human kidney tissue samples to determine which genes were expressed in people with CKD. JDRF was one of the primary funders of the study, along with the National Institutes of Health.

CKD affects nearly 10 percent of the world’s population, and one in four people with type 1 diabetes (T1D) will develop it in their lifetime. The cause of CKD is still poorly understood, and most treatments are palliative rather than aimed at a cure.

The study provides a new genetic framework for the development of CKD, as it “defines key cell types and new mechanisms involved in the disease.” This new biological insight includes new datasets as part of a scan for the genetic variants associated with CKD.

“We believe this is the first study to directly characterize cell type specificity on different [kidney] compartments on solid organ samples,” the study’s researchers said.

Research like this is helping to create potential new opportunities for the treatment of T1D-related complications such as CKD, as well as a way to detect those complications as early as possible. For more on JDRF’s complications research, click here.