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Advancing in on MODY genes

Project summary

Maturity Onset Diabetes in the Young (MODY) is a rare type of diabetes caused by a change in a single gene. Researchers are still finding other changes in the genes linked to MODY, but we don’t yet know if these new changes are harmless, or also cause MODY. Professor Guy Rutter wants to confirm whether these newly found genetic changes cause MODY, how they cause it, and what the best treatment is for people with these particular genetic changes.

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 be difficult to diagnose, and many people are misdiagnosed with type 1 or type 2 diabetes instead. Getting the right diagnosis is important because the treatments for MODY, type 1 and type 2 diabetes are all different.

In families with suspected genetic forms of diabetes, it’s often unclear whether the genetic change is responsible for causing diabetes, as we also have harmless changes in our genes. Professor Rutter wants to study some of these newly identified changes in MODY genes, to find out whether they could be diabetes-causing or not.

Research aims

Professor Rutter’s student will use information from MY DIABETES: a database of 1,400 people who have been diagnosed with diabetes before the age of 30. MY DIABETES aims to find people with MODY, so we can learn more about each of the genetic differences in people with the condition. The research team believes that the new genetic changes recently found could be responsible for causing MODY, but they want to confirm this.

They’ll use ‘genome editing’ – an advanced technique that allows the researchers to edit the genetic information inside a human insulin-producing beta cell, so that it now includes the genetic change they’re interested in. They’ll then study the beta cell to see if the change affected its function, looking at how well the beta cell produces insulin and how it responds to different diabetes medications.

Once the researchers have an understanding of what the genetic change does and which drugs worked the best, they will take those drugs through to test in people with that particular genetic change, to find out whether it helps them to manage their blood sugar levels.

Potential benefit to people with diabetes

People with MODY need a different treatment compared to people with type 1 or type 2 diabetes, so it’s really important that they get the right diagnosis. This research will help us to understand the role of new genetic changes in MODY and how best to treat them, so that personalised care can be immediately provided to those involved and their families. It will also help doctors to identify new cases of MODY in the future.  

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