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The University of Southampton
Medicine

Discovering the first genetic form of diabetes and improving care for patients

University of Southampton researchers discovered the first genetic form of diabetes and suggested that it was regulated epigenetically by a process called parental imprinting. This work has critically advanced research on imprinting disorders and ultimately improved care pathways for patients. Our research is incorporated into international patient care guidelines for testing and treatment of Transient Neonatal Diabetes (TND) and has led to improved patient care for eight further genetic imprinting disorders.

Research Challenge

The prevalence of diabetes is increasing and currently affects more than 285 million people worldwide. Determining those at high risk, preventing new cases and optimising treatment are of international importance but neither genetics nor epigenetics alone can adequately predict those at risk.

Context

Prior to 1995 most childhood diabetes was assumed to be Type 1 resulting from autoimmune destruction of pancreatic beta-cells. A 1995 University of Southampton paper on TND was the first indication of a genetic form of diabetes. The inheritance pattern discovered by our team suggested, moreover, that its gene was imprinted – regulated epigenetically via the parent of origin.

Our Solution

By genetic investigation of patients we identified the imprinted TND locus and subsequently developed detection methods for epigenetic mutations in patients.
Our laboratory demonstrated connections between imprinting disorders, firstly describing TND patients with a novel ‘complex’ imprinting disorder, and then demonstrating mutations in a gene essential for normal epigenetic control of development. This work showed the power of genetic studies for disclosing biological mechanisms, defined novel clinical entities and drove technical developments that have enhanced diagnosis of imprinting disorders.

What was the impact?

Our work over 15 years marked out an epigenetic form of diabetes, defined its genetic origin and provided investigative tools which are increasingly used in research and diagnosis for a whole range of congenital IDs.

This long-term collaborative research has transformed management and intervention for neonatal diabetes and our diagnostic programme successfully diagnoses 95% of neonatal diabetes, supporting care for 1500 infants all over the world.

Baby undergoing test for diabetes
genetic imprinting and diabetes

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