Save for later

A ‘one-stop’ diagnosis for MODY

Project summary

Dr Timothy McDonald and his colleagues will purchase a robot to help streamline the diagnosis of Maturity Onsent Diabetes of the Young (MODY). This will help healthcare professionals across the country to make an accurate diagnosis and ensure that more people with diabetes receive the correct treatment.

Background to research

Around 2-3 percent of diabetes cases involve one of the less common forms of the condition, which are caused by mutations in a single gene. These forms of diabetes are often misdiagnosed as Type 1 or Type 2 diabetes, which is problematic, as it leads to the wrong kind of treatment being administered and can increase the risk of complications in later life. A correct diagnosis can help some people to come off insulin injections and switch to tablets.  Each diabetes diagnosis is usually carried out using tests carried out in different labs and interpreted by different experts. Sometimes several different blood tests are required before the correct genetic test is requested, leading to significant delays in finding the correct diagnosis. A better approach would be to perform each test on a single sample at a single centre and integrate the test results with each other and with clinical information about the patient. The University of Exeter Medical School runs the UK genetic testing service for patients suspected of having maturity-onset diabetes of the young (MODY). This is an inherited, non-insulin-dependent form of diabetes caused by a mutation in a single gene. The team in Exeter have identified the key low-cost blood tests needed to identify people most likely to have MODY who can then go on to have expensive genetic testing. They have also developed a ‘clinical prediction tool’ that uses characteristics (such as age, weight and family history of diabetes) to give an estimated risk of MODY. 

Research aims

Dr Timothy McDonald and his colleagues will purchase a robot that will help them streamline the process used to diagnose MODY in someone with diabetes. The new process will mean that all the required blood tests can take place at a single centre using a single blood sample and be integrated with clinical characteristics. This will increase efficiency and decrease the time it takes to make a correct diagnosis, ensuring that more people with diabetes receive the correct treatment. The robot will automate and increase sensitivity, capacity and reproducibility of testing for markers of an immune attack against insulin-producing beta cells. 

Potential benefit to people with diabetes

The new ‘one stop’ diagnostic service developed using this equipment grant will give healthcare professionals across the country direct access to expert confirmation of the type of diabetes their patient has. It should have a significant impact by reducing the time it takes to get a correct diagnosis of MODY and helping to ensure that patients get the right treatment to minimise their risk of diabetic complications in later life. 

Brand Icons/Telephone check - FontAwesome icons/tick icons/uk