I’m working on a way to make diagnosis of genetic diseases faster and more accurate. I’m applying this to haemoglobinopathies which are the most common group of genetic disorders in the world, so this will improve the clinical care of the very large number of people who are at risk from these diseases. Hopefully, the same technique will be applicable to lots of other genetic diseases, which will improve how we can diagnose them as well! Better diagnosis can mean better treatment for a lot of diseases, and also improve our understanding of how the disease works, which helps us think of new ways to cure them
In one part of our work we are building simulations of signalling pathways that are disrupted in some of the most prevalent forms of neurological disease such as Parkinson’s, Alzhemier’s, Attention Hyperactivity Deficit Disoder (ADHD) and Dementia.
We are trying to develop general ways of doing this so that the technology can be widely used, if that works out I think it would be a valuable contribution to science and will hopefully speed up how we identify which parts of these pathways are important in disease and present candidates for drug companies to look at for therapeutic treatments.
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