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Lots of diseases start with genetic mutations. I work in a hospital lab trying to work out what mutations patients have because this can help us treat them, help us understand the disease, and help us check if their children are likely to be affected. The problem is that some of these mutations are really complicated – lots of pieces of DNA being swapped around or deleted – and it’s hard to work out which genes are affected and how.

What I’m currently trying to do is use a new development in DNA analysis called Next Generation Sequencing to work out what mutations have happened quicker, more accurately and more easily. This will be very useful for the people who work in the lab, as they often have to deal with lots of patient samples all at once.

If I can prove this technology is useful for detecting all the most complicated mutations in blood disorders we know about, hopefully other labs will be able to take my method and use it for the diseases they study as well!

The general procedure of sequencing is quite straight forward – add a few microliters from tube X into tube Y, incubate it, add some other things, and then put it on the sequencing machine. The tricky part, which I am actually working on, is how the data you get out is analysed. I spend a lot of time checking that all the pieces of DNA that are sequenced are arranged in the correct way in different pieces of software for us to detect what parts are mutated. We do this by checking the DNA against a reference sequence of the human genome which can be accessed by anyone through this site: http://genome-euro.ucsc.edu/index.html.