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Correct diagnosis of the different forms of diabetes is difficult because of their overlap in clinical features. We estimate that only 10-20% of people with monogenic diabetes are correctly diagnosed. The implications of incorrect diagnosis are huge because different forms of diabetes respond better to different types of treatments.

Q: What causes diabetes in young adults?

KO: Quite a few things actually. You might have heard of Type 1 and Type 2 diabetes, which are the common forms of diabetes. Type 1 diabetes is much more common in children and adolescents but continues to arise through young adult life. Type 2 diabetes is much more common in middle to old age but increasingly these days we are seeing it in younger people too. But what people are much less likely to have heard about are some other rare forms of diabetes caused by changes in single genes also called monogenic diabetes and it's also sometimes called maturity-onset diabetes of the young or MODY. The interesting thing about these forms of diabetes is that they also arise in young adulthood so when we meet a patient who has been diagnosed between the ages of 10 and 40 there is quite a wide range of possible causes for that diabetes that we have to think about as doctors.

Q: Is it easy to distinguish between different types of diabetes?

KO: It often isn't and that's one of the problems that we have. There's quite a lot of overlap between the clinical features of these different forms of diabetes. For instance if we think about monogenic diabetes, there are some features in common with type 1 diabetes and some in common with type 2 diabetes and because medicine is not an exact science often we can't always tell very easily.

Q: How does a correct diagnosis effect treatment?

KO: It's very important. If you're thinking about type 1 diabetes then the appropriate treatment is insulin treatment for the rest of your life. However for type 2 diabetes the usual first tablet that's used to treat this is called Metformin. However if you take the commonest types of MODY then for one form a tablet called Sulphonylurea is much more effective than Metformin and for another kind of Monogenic diabetes you don't need any treatment at all. What can happen is for example someone has been diagnosed with diabetes at the age of 20, they're often assumed because of their age to have type 1 diabetes and commence insulin injection treatment. But if you subsequently find that they've got monogenic diabetes or MODY then they can actually stop taking those insulin injections and have tablets or no treatment at all and you can imagine that has a huge impact on people's lives.

Q: What are the most important lines of research that have developed over the past 5 or 10 years?

KO: From our point of view trying to increase uptake of testing for these rare forms of diabetes is very important because we estimate that only 10 to 20% of people who actually have monogenic diabetes have been given the correct diagnosis and having the opportunity for those treatment changes that I've talked about. What I've been doing over the last 5 years or so in Oxford is to try and work out what the key clinical features are for diagnosing people who have monogenic diabetes and also are there additional biochemical or immunological blood tests that we can do to add to the clinical features. So our overall aim is to make diagnostic protocols that all clinicians all over the country can use in order to identify all the people who have got monogenic diabetes rather than just a small percentage of them.

Q: Why does your line of research matter? Why should we put money into it?

KO: I think I'm very lucky working closely with patients because I can see the direct impact that my research has on those individuals. I find people are always very keen to know more about what has caused their diabetes and how it might affect their family. If you're able to make a treatment change such as stopping insulin then obviously that has a huge impact on those individuals and I would say our ultimate aim is to try and put this personalised medicine there for everyone with diabetes.

Q: How does your research fit into translational medicine within the department?

KO: Well I think because the department has a very strong track record of successful research in the genetics of type 2 diabetes and obesity and other related metabolic conditions. Because my work is very clinical I think it complements very well with the more complex statistical genetics works that's done and also the laboratory based functional genetics work that's being done.

Katharine Owen

Types of Diabetes

There are more forms of diabetes than the commonly known type 1 and type 2. Professor Katharine Owen investigates the different characteristics of monogenic diabetes with the aim of creating systematic diagnostics for aetiology of diabetes, and implementing that in clinical care. The ultimate aim is to promote personalized medicine for everybody with diabetes.

This podcast presents the research done by Professor Owen whilst working in the Nuffield Department of Medicine. Professor Katharine Owen now works at the Radcliffe Department of Medicine.

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