Trainee Clinical Scientist in Bioinformatics (Genomics)
I work in the Bioinformatics Group in the Genetics Diagnostic Laboratory, which is part of the Manchester Genetic Medicine Center (MGMC) in St Mary’s Hospital, in Manchester. It is part of the Manchester University Hospitals NHS Foundation Trust. In the future centre will become the genomics hub for the whole of the North West of England, and work with other hospitals in Liverpool, Lancashire, as well as the specialist cancer hospital The Christie. As well as providing a genetics testing service for patients, the lab also works closely with researchers from the University of Manchester. The lab also played an important role in the 100,000 genomes project, which aimed to sequence all the genes in nearly 100,000 people. All the participants had either a rare genetic disease, a cancer, or rare infections.
These are some of the types of inherited disease the lab offers testing for:
- Cardiovascular (heart diseases)
- Ophthalmic (eye diseases)
- Metabolic disorders
- Learning difficulties
- Rare diseases
The lab also provides testing to current cancer patients and tests the genes in tumours. Cancer is caused by genes losing their ability to stop mutations happening, tumours have lots of mutations. Depending on the mutations in a tumour, we can now recommend specific treatments that will be effective against that cancer.