Project summary
MODY is a rare form of diabetes caused by a change in a single gene. But there’s much scientists don’t yet know about the condition, such as the exact genes involved and whether it’s linked with other medical problems. Dr Michael Weedon will use a large health database, containing detailed genetic information and biological samples from over half a million people, to answer key questions about MODY. This knowledge could transform care for people with MODY and help scientists to develop new diabetes treatments.
Background to research
Maturity Onset Diabetes in the Young (MODY) is a rare genetic form of diabetes caused by a change in a single gene. It can often be misdiagnosed as type 1 or type 2 diabetes. A correct diagnosis of MODY is really important so people can be given the right treatment.
But there’s a lot we don’t yet understand about the condition, like which exact genetic changes cause MODY, or how common misdiagnosis is. This is because scientists previously haven’t had access to large databases of genetic information which could help them to answer these questions.
The UK Biobank is a collection of health information and samples from over 500,000 people. Now, rich genetic data for all people in the UK Biobank will be added to the collection, providing scientists with information on their genetic changes.
Research aims
Dr Weedon will use the UK Biobank to find out more about MODY and build a more complete picture of its causes and effects.
Specifically, he wants to know if all of the genes which have been linked to MODY in the past do in fact cause it. Dr Weedon will test this by looking at how likely a person who has a change in a MODY gene is to get the condition. He will then explore if people with changes in MODY genes have any additional medical problems, like kidney complications. And finally, he’ll look at how often MODY is misdiagnosed and wrongly treated.
Potential benefit to people with diabetes
Building a more complete picture of MODY’s causes and effects could help more people with MODY to get the right diagnosis and right treatment. This could also give people with MODY a better insight into their risk of any additional medical problems, so they can get the right care.
It could also provide new insights into the biology of genes involved in the development of the pancreas and blood sugar control. In the future, this may help scientists to develop new treatments for people with MODY, and more common forms of diabetes too.
