Led by Professor Julian Knight
While with rare diseases, one genetic mutation could be responsible, it is often the case that the incremental effects of lots of different genes lead to common health conditions such as cancers or cardiovascular disease.
We are developing polygenic risk scores that can assess different genes and tell you where you are on a risk profile, and what is the likelihood of you getting a disease. We are working to understand how we can refine this tool to use it in the clinic – including primary care – to identify people who are at highest risk.
This will include incorporating other factors beyond the DNA sequence – a so-called multi-omics approach that takes in transcriptomics, metabolomics or proteomics. This allows us to understand how the genome is put together and regulated.
This richer data will allow us to prioritise those patients most at risk of these common conditions and lead to more targeted therapies.
We are working towards getting the evidence that shows PRS is a vital clinical tool for predicting the risk of common diseases. We are building a large, ethnically diverse cohort by working with the Our Future Health (OFH) programme
We are also using the expertise of a number of BRC themes, including Translational Data Science, to refine the PRS method and to determine those areas most likely to translate well to a clinical setting, such as the early detection of cancers in primary care; risk stratification for prostate and colorectal cancers; and cardiovascular diseases.
We are developing genetic and ‘-omic’-derived biomarkers – molecules found in the blood or tissues that can be an early sign of a disease – that can eventually be used in the clinical setting to detect a medical condition.
One aspect of this will be to stratify acute medical patients with infection and critical illness by comparing their multi-omic data against phenotype – their observable characteristics – to enable a targeted intervention. This will entail close collaboration with a number of other BRC themes.