The Genome Medicine Group combines the use of classical genetics with cutting-edge genome technologies such as whole genome sequencing and epigenomics to unravel the genetics of common complex and rare human disorders. The group has investigated the pathogenesis and developed diagnostic next generation sequencing assays for varied conditions including familial hypercholesterolaemia, Ehlers Danlos Syndrome (EDS), immunologically mediated glomerulonephritis, and motor neurone disease.
In a new collaboration with the Edinburgh Cancer Research Centre, the Genome Medicine Group is developing new methods for analysis of cell-free DNA, for diagnosis and stratification of cancer. Cell-free DNA in the blood of cancer patients contains the same variants as those in the tumour cells, allowing a real-time, non-invasive assessment of the progression of the disease and an indication of response to therapy. Working with oncologists and surgeons in the cancer centre, the group is developing wet lab and informatic approaches to diagnosis of early and late stage disease. Using High Throughput Sequencing and Digital Droplet PCR, somatic mutations specific to breast, ovarian and colorectal cancer are being analysed in cell-free DNA samples. In addition, methods to explore epigenetic changes are being developed that are compatible with low input DNA requirements. Integrated analyses will aim to provide enhanced diagnostic molecular markers in cancer.
This program, alongside advances of others also working in this field, stands to make major advances in cancer management, including monitoring for occurrence of early disease and relapse.
|Tim Aitman||Director of Centre for Genomic and Experimental Medicine, Professor of Molecular Pathology and Genetics|
|Fiona Semple||Postdoctoral Research Associate|
|Gil Tomas||Postdoctoral Research Associate|
|Sophie Marion de Procé||Postdoctoral Research Associate|
Cell free DNA, cancer stratification and diagnosis
WGS, genome informatics, epigenomics