Profile

Our laboratory receives blood samples from Clinical Doctors and we then extract DNA (we also receive other samples such as saliva, tumour samples, bone marrow and tissue but these are not as common as blood).  Once we have DNA from these samples we can then carry out tests to look at specific genes to help the Doctors in diagnosing their patients.

My laboratory specialises in single gene disorders or molecular genetics – this means that we look at genes in patients’ DNA to identify mutations (or spelling mistakes) to help find out why they are ill.  The mutations that we identify are at the base level in the DNA – this means that we are looking for mistakes in the order of the four bases or letters that are in DNA (A, G, C and T).  The order of these letters is different in different genes.  An example is given below.  Can you spot the difference?

Normal sequence: AGTACCTGTA

Mutation (spelling mistake): AGTTCCTGTA [has a T spelling mistake which has replaced A]

Sometimes the information that we find out can help prevent other family members from getting ill in the future.  Some example disorders that we test for include Cystic Fibrosis, Huntington Disease, Spinal Muscular Atrophy (SMA), Breast Cancer and Duchenne Muscular Dystrophy.

My typical day consists as working as part of a team to provide a clinical service.  In the lab we have genetic technologists that carry out all the practical work and then it is my job to look at all the results.  Once I have analysed the data, I write a report about what we have found.  This report is checked by another scientist and then we send this information to the Doctor.

So I spend most of my day in front of a computer – checking results, replying to e-mails and writing reports.  I also speak with Doctors on the phone and help to teach new members in our lab.  I also read information about new technologies, genes identified and tests to keep up to date and to also ensure that the service that we offer is the best that we can.