So tomorrow afternoon I have to abseil off my hospital...AND fight for the Bioinformatics Throne?!
University of Sussex, Imperial College London, King’s College London
Bsc Neuroscience, MRes Translational Medicine, PhD in genetics underway
Worked as a research technician at various London institutes studying variously the genetics of Parkinson’s Disease and Myleodysplastic Syndrome and the role of different neural signalling mechanisms in Schizophrenia
PhD student, Dept Cancer Studies, studying molecular haematology, genetics, bioinformatics
King’s College London
Favourite thing to do in science Finding out new things about how we work and came to be
I study the genetics mutations that cause blood disorders and work out how to spot them more easily in the future
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!
My Typical Day
I might spend a few hours in the lab doing sequencing, but mostly I’m at my computer listening to music and making colourful graphs
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.
What I'd do with the money
Set up a website or make some videos to encourage people to take part in scientific studies
We can only make advances in medicine by finding out new things, and testing new ideas. Sometimes the only way to get really valuable information that could help lots of people is to ask some people to participate in scientific studies.
I think a lot of people worry this will involve us cackling madly while we cover you in electrodes and inject green things into their blood, but that’s not true! Participating in research is always safe and puts your comfort before anything else. On top of that it can be interesting and fun! I participated in an MRI study about heart function recently. Everyone was really friendly and not only did I get free cake and the chance to contribute to human knowledge, I also a DVD of cross-sectional pictures of my body to take home! I got really freaked out looking at them because I didn’t recognise any of the grey blobs, but then I realised I was looking at pictures that went through me left to right – not top to bottom….
How would you describe yourself in 3 words?
Enthusiastic, Haphazard, Friendly
Who is your favourite singer or band?
It’s so hard to choose! I suppose I love Alkaline Trio the most but I like lots of pop, punk and power metal!
What's your favourite food?
What is the most fun thing you've done?
Run around a bear enclosure in Thailand so the baby bear would chase me and get some exercise! I later fed it dog biscuits
What did you want to be after you left school?
I didn’t know – I just wanted to do something interesting that would make a positive impact on people
Were you ever in trouble at school?
Only for silly pranks and forgetting to do my maths homework
What was your favourite subject at school?
Science and art
What's the best thing you've done as a scientist?
Grown brain cells in a dish, added new DNA to them and then treated them with chemicals to glow under UV light
What or who inspired you to become a scientist?
Asside my addiction to David Attenborough I don’t know – I think I’ve just always loved biology and understanding how everything works
If you weren't a scientist, what would you be?
I would have liked to be a graphic designer or worked with animals. Maybe I still will!
If you had 3 wishes for yourself what would they be? - be honest!
I would relocate my lab to a rainforest next to a good beach, have the power to breathe underwater and never bite the inside of my own mouth again
Tell us a joke.
Hedgehogs…why can’t they just share the hedge?