Genetic disorder sheds light on pancreatic development

New studies into a rare genetic disorder affecting the pancreas could offer vital insights into how the organ develops and functions.

Researchers at the Peninsula College of Medicine and Dentistry at the University of Exeter have used advanced sequencing techniques to analyse pancreatic agenesis, a condition that prevents the body from forming a pancreas.

It was discovered that mutations of a gene called GATA6 were found in the majority of test subjects, a surprising discovery given that switching this gene off in mouse models appeared to have no effect on pancreas development.

Now that it is known GATA6 plays a key role in programming cells to become pancreatic beta cells, scientists could be a step closer to creating stem cell treatments for pancreatic conditions such as diabetes.

Professor Andrew Hattersley from the Peninsula College of Medicine and Dentistry said: "We hope this will help the crucial work to try and make beta-cells for patients with type 1 diabetes."

The discovery could be important at a time when the International Diabetes Federation believes the global burden caused by diabetes is on the rise.