Profile

I was born in London and grew up in Northamptonshire. Growing up my dad was a physics teacher, which is probably why I ended up super nerdy!

I went to Durham university to read biology, and did a Masters in genetics in Newcastle. 5 years ago I got a place on a training scheme for scientists in the NHS (the STP) which meant I had to re-locate to Cambridge to work at the hospital.

I now work for Great Ormond Street Hospital as a clinical scientist, but still live in Cambridge. I’ve had a few interesting jobs such as a barmaid, waitress, cashier, documentary extra and actress; but being a clinical scientist has been my favourite (so far…).

My work is definitely ‘dry lab’, I am able to do it all remotely and occasionally go into the office. I honestly can’t remember the last time I had to wear a lab coat, but I’m still I scientist I promise!

I specifically work in very rare genetic disorders, where we will look at genes that are known to cause diseases and see whether the patients have any variants (also known as mutations) that might be responsible for their disease. This means that doctors are able to find out what disease the patient has and give them the most appropriate treatment.

My average day involves analysing patients’ DNA testing results and reporting this to their doctors, reading genetics and medical papers to help with my analysis, attending meetings with clinicians and other scientists, having a zoom catch up with my colleagues and responding to questions from doctors and genetic counsellors about what tests are appropriate for their patients or when they can expect the results. I also spend a lot of my time re-heating coffee that’s gone cold before I managed to drink it!

My favourite part of my job is when I’ve found a genetic diagnosis (which happens with just over half of the cases I look at) and have written the report for the doctors. I like this because I know that the work I have done has impacted that patient’s care in a positive way.