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Rare diabetes genes: in search of the other half

Project summary

A rare type of diabetes, known as syndromic diabetes, is caused by changes in certain genes. But so far only half of the genetic changes behind the condition have been found. Dr Patel aims to find more of the genes that could be causing syndromic diabetes. This would mean more people get the right diabetes diagnosis and care.  

Background to research

Syndromic diabetes is a rare form of diabetes that affects children and young adults. People with syndromic diabetes have other health conditions affecting different parts of the body, including learning disabilities, developmental delay and deafness. Some examples of syndromic diabetes are Wolfram syndrome and Alström syndrome

Syndromic diabetes is caused by changes in specific genes. So far, 18 different genes have been found to cause syndromic diabetes. But scientists don’t know what genes are causing the condition in at least half of people living with syndromic diabetes. This means they’re often misdiagnosed with type 1 or type 2 diabetes and receive the wrong kind of treatment.  

Research aims

Dr Patel’s research aims to find the missing genes that can explain the cause of syndromic diabetes in the other half of people.  

He will carry out the largest ever genetic study of people with syndromic diabetes, studying clinical and genetic information from more than 50,000 people. Once he’s found any new genes, Dr Patel will double check they really are the genes causing the problem. These studies will include tracking the genes in families and unravelling what the genes actually do. 

Potential benefit to people with diabetes

In the UK, 1 in 10 children who have diabetes that differs to the typical picture of type 1 diabetes actually has syndromic diabetes.   

Dr Patel’s research hopes to find new genetic causes for this form of diabetes. Doing so will help to avoid dangerous cases of misdiagnosis and improve care for people with syndromic diabetes.  

The genetic discoveries will also give scientists new clues as to genes that important for a  healthy pancreas. In the longer term, further research into these genes could lead to development of new drugs to treat type 2 diabetes.  

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