“My job is to take samples of genetic material and to analyse it for diseases or abnormalities. A lot of my day is spent doing lab work. Some of the mutations I find are unique - they have never been seen by anyone else in the world before.”
I am part of a team of 27 scientists working in the Molecular Genetics Department of the hospital. Our job is to take samples of genetic material (usually in the form of a blood sample, but it could be tissue from inside someone's cheek or even amniotic fluid from around an unborn baby) and to analyse it for diseases or abnormalities.
At the start of my day I have to deal with the new samples that have been sent in from hospitals, GP's, clinicians and genetic counsellors; each then is checked, logged and processed. Samples can come from all over the globe; this department contains world experts in some fields. We are divided into teams that each specialise in different genetic problems, such as cystic fibrosis, haemophilia, and Huntingdon's disease. I have responsibility for two particular abnormalities and so those samples will be assigned to me.
A lot of my day is spent doing lab work. We use a special process to 'amplify up' the part of the DNA chain that we need to look at. I then study it in detail and test it for the defects that are associated with each particular genetic disease. Sometimes it's pretty obvious (I can see a big bit missing from the DNA chain) but often quite subtle and painstaking detective work is needed. I have to interpret changes within each gene and in the proteins that each gene makes, to try and find out what has gone wrong.
The rest of my day involves writing up the reports on each sample; some are pretty complicated and can take up to four hours to complete. Quite often I will need to talk directly to doctors and counsellors to help them interpret the complex implications of the results. That's when the emotional impact of my work hits home: it reminds me that all these diseases have repercussions right through a whole family, often into the next generations of new, or even unborn babies.