Award success for pioneering diabetes research

Dr Tim McDonald won the Lilly Diabetes Clinical Research prize, and Dr Kashyap Patel won the Nick Hales Young Investigator award at the Diabetes UK Professional Conference last week in Glasgow. Both academics hold joint roles at the Medical School and the Royal Devon & Exeter NHS Foundation Trust.

Dr McDonald presented data on screening for a rare but severe condition called neonatal diabetes. This is a condition in which babies are born with a genetic defect that means their blood sugar (glucose) rises from birth – leading to increasingly severe diabetes.

At present, the babies are often not recognised as being ill until several weeks, sometimes even months, after birth, when their glucose reaches a life-threatening level. This can lead to vomiting and the loss of consciousness. Many infants die, and those who survive may be left with life-changing brain damage and needing to be in hospital or institutional care for life.

Dr McDonald, an Honorary Clinical Senior Lecturer at the Medical School, said: “I’m delighted to win this award for this research project, in which we developed a test that can identify babies with the condition before they get ill. All babies at 5-7 days have a blood spot taken from a prick of their heel which can be used to test for a number of diseases.”

“I presented data that showed babies with this type of diabetes can be identified by simply measuring glucose on the card. This has the potential to avoid the devastating complications of unrecognised diabetes in the future.”

Dr Patel, a clinical lecturer in diabetes, looked into a DNA defect in a single gene that is responsible for diabetes in young age, commonly known as Maturity Onset Diabetes of Young (MODY). Finding the gene responsible for the genetic forms of diabetes such as MODY is important not only for patients, but also due to its wider scientific impact.

Dr Patel said: “I presented the study in which we identified a DNA change in a gene called ‘RFX6’ as a new cause of MODY. One defective copy of this gene is enough for an individual to get diabetes. The gene is responsible for normal pancreas development but how this gene causes MODY is not known – further studies to understand why these patients with one defective copy of RFX6 develop diabetes are needed. This information could help provide targeted therapy.”

Annika Palmer, South West Regional manager, Diabetes UK, said: “We are very proud to reward the achievements of these outstanding projects, which have helped to advance our understanding of both research areas and could potentially have a significant impact - both on research and on the lives of people with these conditions.”