Introduction
The Genomic Medicine Theme has for many years been at the forefront of developing novel genomics technologies and tests to help diagnose and treat patients with genetic diseases.
Many diseases have a genetic basis, in other words they arise from changes (or mutations) in a person’s DNA.
Sometimes these changes are inherited through generations of a family. Many rare diseases fall into this category, such as inherited heart diseases, developmental disorders, defects of the immune system, neurological conditions and inherited forms of cancer. For other genetic conditions, changes in the DNA can be acquired during a person’s lifetime.
In order to provide an accurate genetic diagnosis for our patients, we need to find exactly where the mutations in their DNA occur. Until recently, available technologies limited us to reading, or ‘sequencing’, selected candidate genes that are expected to be the culprit for the disease – namely those genes already known to cause the disease.
Recently however, technologies have been developed to enable us to read the entire set of genes in a patient’s genome, termed whole genome sequencing. This greatly increases our chance of finding the mutations responsible for the disease. However, there are many genetic changes in the DNA that don’t cause disease, and identifying the disease causing (pathogenic) changes from the terabytes of genetic data produced, is very challenging.
Ultimately, we want to be able to correct these genetic defects. New ways of genome editing in the laboratory are being developed, and we will also explore whether these can be safely utilised for patients.
Our work will therefore focus on:
- Developing novel methods for rapidly and accurately analysing whole genome sequence data for patients with genetic diseases.
- Investigating how the mutations we identify affect the function of the gene and the protein it encodes.
- Explore the potential for developing novel clinical reagents based on our sequencing data, in collaboration with the Structural Genomics Consortium and our pharma / biotech network. See thesgc.org
- Using methods of genome editing to deliver stem cells to patients with modified genes, to treat conditions such as inherited anaemias.
- Supporting the national uptake of whole genome sequencing. We are a partner centre for Genomics England’s 100,000 Genome Project, a national NHS project to analyse DNA from some cancer and rare disease patients, and are also helping to analyse the health economics (cost) of conducting genome sequencing in the NHS. See genomicsengland.co.uk