Single Molecule Sequencing for Health in the North East

东北地区以研究疾病的分子基础而闻名，大学与NHS和商业合作伙伴密切合作。传统的专业领域侧重于罕见的疾病，如线粒体和神经肌肉疾病、罕见的儿童癌症和罕见的免疫缺陷。虽然罕见疾病仍然是一个关键的专业领域，但我们已经将我们的研究显著扩展到更常见的疾病，包括常见的癌症类型、生殖障碍、2型糖尿病、炎症性肠病和败血症，但在抗菌素耐药性和废水研究方面也越来越多。在所有这些疾病领域，我们看到越来越多的人采用基因组方法，这在很大程度上是由于技术发展，这些技术发展现在使我们能够更完整地了解这些疾病的分子生物学，或者使用基因组学作为一种高度准确的工具来表征细菌。这对于预防和及早发现疾病、快速和更准确地诊断患者并指导他们进行越来越有针对性的/个性化治疗以及发现新的药物靶点至关重要。此外，分子方法由于其更高的特异性和敏感性，已经在废水监测和公共卫生研究中找到了自己的方法。在这项提案中，我们要求提供资金，以扩大我们在东北地区的基因组能力，使我们能够在所有上述疾病领域为我们的生物医学研究提供最佳机会。具体地说，我们希望获得能够让我们研究超长DNA和RNA片段的设备，并以非常高的容量实时进行这项工作。这使我们能够更准确地读取人类基因组，因为目前的设备无法研究基因组的大部分。同样的设备还将允许我们对转录组进行更详细的研究，转录组是我们细胞中的RNA，这对了解疾病的分子基础以及研究细菌基因组和线粒体至关重要。

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.