Young Investigator award for Exeter childhood diabetes researcher

Dr Elisa de Franco, of the University of Exeter Medical School, has been awarded the ISPAD Young Investigator Award, in recognition of her research focused on the use of cutting-edge genomic technologies to discover the genes which are essential development and function of the insulin producing cells in the pancreas. Insulin regulates blood sugar, and so without insulin babies have diabetes with a very high blood glucose soon after birth.

So far, Elisa has discovered and published six previously unknown genetic causes of neonatal and early onset diabetes. This work is important not just for helping to diagnose the children but also for helping to understand how the key processes in making a working beta-cell; this knowledge will be very important in helping to treat Type 1 diabetes by making insulin producing cells.

Dr De Franco said: “As a molecular geneticist, I apply the latest genome sequencing to identify the spelling mistakes (or genetic mutations) which cause diabetes in newborns. This is fundamentally important for these children, as it can result in access to better treatment. Furthermore, it gives insights into the bits of the DNA which are essential to produce insulin. These findings are fundamental to improve treatment and care for children with rare forms of diabetes and can lead to important insights into how the body makes insulin, potentially improving the lives of millions of people that at present need insulin injections.”

Elisa, the scientific lead for the neonatal diabetes genetic testing service at the University of Exeter, added: “I’m incredibly honoured and absolutely thrilled to be selected for the ISPAD 2020 Young Investigator Award. It’s fantastic to have my contribution to the field of neonatal diabetes genetics internationally. I’m immensely grateful to all the Exeter researchers, scientists and technicians who contribute to my research every day, my mentors for their leadership and support, and my funders. Finally, I’d like to thank the clinicians from all over the world who send samples from babies with neonatal diabetes to Exeter for genetic testing. I feel privileged to be working in such a fantastic international research environment, which directly benefits the lives of children with neonatal diabetes worldwide.”

Elisa obtained an undergraduate degree and a master’s degree in medical biotechnologies at the University of Turin, Italy, followed by a European Union-funded PhD fellowship at the University of Exeter. Elisa received the European Association for the Study of Diabetes Rising Star award in 2018 and in 2019 she has been awarded a prestigious RD Lawrence fellowship by Diabetes UK that has funded her research for the next four years. She has published over 50 papers, including first-author publications in the Lancet, Nature Genetics, the American Journal of Human Genetics, and Diabetes.

Professor Clive Ballard, Executive Dean of the University of Exeter Medical School, said: “I’m delighted that this award recognises Elisa’s talent and impact on an international level. Teamwork is a key strength of our world-leading Exeter Centre of Excellence in Diabetes (ExCEED). They collaborate with each other, and with clinicians locally and across the world, to get the best outcome for patients. As a College, we’re really committed to recognising and rewarding talented researchers at all levels.”

Kamini Shah, Head of Research Funding at Diabetes UK was delighted to hear of Elisa’s success, “Great research cannot happen without great researchers, and Diabetes UK are proud to support Elisa. It is a fantastic achievement to win this prestigious award so early in her career. Elisa’s work is already giving exciting insights into the complicated process required to make insulin-producing beta cells in the lab. We can’t wait to see what else she achieves in her career and the life-changing impact her research could have for people living with diabetes.”