Single Molecule Sequencing for Health in the North East

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The North East is well-known for studying the molecular basis of disease, with Universities working in close partnership with the NHS and commercial partners. Traditional areas of expertise were focused on rare diseases such as mitochondrial and neuromuscular disease, rare childhood cancers and rare immune deficiencies. While rare disease remains a key area of expertise, we have expanded our research significantly into more common diseases including common cancer types, reproductive disorders, Type 2 diabetes, inflammatory bowel disease and sepsis, but also increasingly in antimicrobial resistance and wastewater studies. In all of these disease areas we have seen an increased uptake of genomic approaches, largely due to technological developments that now allow us to obtain a more complete picture of the molecular biology of these diseases or use genomics as a highly accurate tool to characterize bacteria. This is essential for prevention and early detection of disease, for rapidly and more precisely diagnosing patients and pointing them to increasingly more targeted/personalised therapies, and for the discovery of new drug targets. In addition, molecular approaches because of their increased specificity and sensitivity have found their way into wastewater monitoring and public health studies. In this proposal, we are requesting funds to expand our genomic capabilities in the North East to allow us to provide the best opportunities for our biomedical research in all the above mentioned disease areas. Specifically, we would like to acquire equipment that will allow us to study extremely long DNA and RNA fragments, and do so in real-time with very high capacity. This enables us to read the human genome more accurately, as current equipment is unable to study large parts of the genome. The same equipment will also allow us to perform more detailed studies of the transcriptome, the RNA in our cells which is critical to understand the molecular basis of disease, and to study bacterial genomes and the mitochondrion.