Meet the scientists!

I was always interested in science at school, I liked coming up with ideas and thinking of ways to test them. When I got to University I quickly realised that I didn’t actually enjoy working in laboratories, I found working to the protocols quite restricting (and I wasn’t very good at it). I had always enjoyed working on computers and so I took a 1 year course in statistical genetics and found that this allowed me to perfectly combine my enjoyment of biology with my love for computing. And I haven’t really looked back since!

The typical day is quite varied but my favourite bits are chatting with colleagues about science and sitting in front of my computer doing research. These days, I don’t always get the time I would like to spend doing my own research. However, when deadlines are approaching I often clear my calendar of other things and spend 3-4 days doing nothing but research – those are good days!

The genome is very big, it contains over 3 billion units (or base-pairs) which is about equivalent to half the number of people currently living on the planet! If you want to store a single genome sequence on a computer you will need about 90 gigabytes (Gb) of disk space to do this (my macbook has a 16oGb harddisk so I can’t even fit two whole genome sequences on my laptop). When we do our experiments we typically compare the genomes of, say, 2000 Crohn’s disease patients to the genomes of 2000 people without Crohn’s disease. This is twelve trillion base-pairs and 360,000 gigabytes (or 360 terabytes) of disk space! As you can imagine, we need very powerful computers to analyse and store all this information (and we have one of the biggest super-computers in Europe at the Sanger Institute).

I develop computer programs to make the analysis of this large amount of data easier. I then use these programs (and ones developed by others) to try and pick out the relatively few regions of the genome that differ between people who have Crohn’s disease and those that don’t. Of the 3 billion base-pairs in the genome there are probably only around one thousand that have a reasonable effect on Crohn’s disease risk (that’s 0.0003%). It’s like trying to find a needle in a haystack – but that’s what makes it fun (and very exciting when you find one)! We hope that by find these genomic regions and working out how they increase disease risk we can devise new treatments and preventative therapies.