‘Landmark research’ unveils genetic underpinning of kind 1 diabetes


The results of a so-called “landmark study” revealed some important information that will help experts learn more about type 1 diabetes.

The team at the University of California’s San Diego School of Medicine says they have identified the genetic basis for type 1 diabetes.

This groundbreaking discovery means they can now identify a predictive causal role for certain cell types in autoimmune disease.

Little is known about the process of how and why type 1 diabetes develops.

Experts already know from previous research that the disease has a strong genetic component. A number of studies have been conducted that have focused on comparing entire genomes of people with the same disease. This means that the researchers were able to look for possible differences in the genetic code. Risk variants for type 1 diabetes have largely been found in the non-coding regions of the genome.

In this newly published study, the researchers combined genome-wide association studies (GWAS) data with epigenomic maps of cell types in the peripheral blood and pancreas. This enabled them to see how and when certain genes in cells were switched on and off. This meant they could watch the production of proteins that are important specific cell functions.

They used this approach, which included the largest GWAS of type 1 diabetes to date, on 520,580 genome samples to identify 69 new association signals.

Study lead author, Professor Kyle Gaulton, PhD, of the Department of Pediatrics, UC San Diego School of Medicine, said, “By combining these two methods, we were able to identify cell-type-specific functions of disease variants and discover a predictive causal role.” For exocrine Pancreatic cells in type 1 diabetes that we were able to validate experimentally. “

Co-author Professor Maike Sander, of the Pediatrics and Cellular and Molecular Medicine Departments of the UC San Diego School of Medicine and director of the Pediatric Diabetes Research Center, called her work a “landmark study.”

Joshua Chiou, PhD and a recent graduate of UC San Diego’s Biomedical Sciences graduate program who also contributed to the study, added, “Understanding how type 1 diabetes develops at the cellular level is a critical step in the quest after treatments to reverse its course and ultimately to prevent the disease as a whole. “

The study was published in the journal Nature.