Identification of Monogenic Diabetes
Research type
Research Study
Full title
Identification of monogenic diabetes in pre-existing studies of type 1 diabetes patients
IRAS ID
205262
Contact name
Andrew Hattersley
Contact email
Sponsor organisation
University of Exeter
Duration of Study in the UK
2 years, 11 months, 31 days
Research summary
Discovering the DNA (genetic) changes responsible for the rare inherited (monogenic) forms of diabetes has profound effects on a patient’s life. We are currently unable to recognise all of these patients as they often share clinical features to other types of diabetes. For example, those patients with a young age of onset are often misdiagnosed and mistreated as type 1 diabetes. We aim to use a new genetic tool (type 1 diabetes genetic risk score) along with other already available tools to identify patients with genetic forms of diabetes (monogenic diabetes) who are misdiagnosed as type 1 diabetes.
We will use already collected DNA and clinical data from studies involving type 1 diabetes patients such as the ADDRESS-2 study. We will measure 30 common genetic changes in these patients to calculate their type 1 diabetes genetic risk score. We will use this genetic information along with clinical information to find patients who may have genetic forms of diabetes in these studies. These potential monogenic diabetes patients will then have a genetic test to confirm monogenic diabetes. The patients with a negative genetic test, will then have further more detailed genetic testing to find new cause of monogenic diabetes.
This study will provide important insights into pancreatic function in humans and may provide further information about possible treatments.
REC name
South West - Cornwall & Plymouth Research Ethics Committee
REC reference
16/SW/0233
Date of REC Opinion
15 Sep 2016
REC opinion
Further Information Favourable Opinion