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‘Landmark study’ unveils genetic underpinning of type 1 diabetes

Findings from what is being called a “landmark study” has uncovered some vital information which will help experts understand more about type 1 diabetes.

The team from the University of California San Diego School of Medicine say they have identified the genetic underpinning for type 1 diabetes.

This breakthrough discovery means they can now identify a predictive causal role for specific cell types in the autoimmune condition.

The process of how and why type 1 diabetes develops is poorly understood.

Experts already know from previous research that the condition has a strong genetic component. A number of studies have been carried out which have focussed on comparing whole genomes of people with the same condition. This means researchers have been able to look for any differences there may in the genetic code. At-risk variants for type 1 diabetes have largely been found in the non-coding regions of the genome.

In this newly published trial, the researchers combined genome wide association studies (GWAS) data with epigenomic maps of cell types in peripheral blood and the pancreas. This allowed them to see how and when specific genes turned on and off in cells. This meant they could see the production of proteins which are important specific cellular functions.

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

Lead study author Professor Kyle Gaulton, PhD, from the Department of Pediatrics at UC San Diego School of Medicine, said: “By combining these two methodologies, we were able to identify cell type-specific functions of disease variants and discover a predictive causal role for pancreatic exocrine cells in type 1 diabetes, which we were able to validate experimentally.”

Co-author Professor Maike Sander, from the departments of Pediatrics and Cellular and Molecular Medicine at UC San Diego School of Medicine and director of the Pediatric Diabetes Research Center, described their work as a “landmark study”.

Joshua Chiou, PhD and a recent graduate of the Biomedical Sciences graduate program at UC San Diego, who also worked on the study added: “Understanding how type 1 diabetes originates at the cellular level is a critical step in finding treatments for reversing its course and, ultimately, preventing the disease altogether.”

The study has been published in the Nature journal.

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