Director of Functional Genomics Initiative

功能基因组学计划主任

• 批准号: MR/Z000068/1
• 负责人: Jonathan Mill
• 金额: $ 170.23万
• 依托单位: UNIVERSITY OF EXETER
• 依托单位国家: 英国
• 项目类别: Research Grant
• 财政年份: 2024
• 资助国家: 英国
• 起止时间: 2024 至 无数据
• 项目状态: 未结题
• 来源: https://gtr.ukri.org/projects?ref=MR%2FZ000068%2F1
• 关键词: Director; Functional; Genomics; Initiative

The UK has huge strengths in functional genomics, and this is an exciting time for research aimed at characterising the mechanisms by which genetic variation impacts on cellular phenotype across developmental stages and physiological systems. Technological advances mean we can now sequence genomes at unprecedented scale and accuracy, and also profile epigenetic regulation and transcriptional variation in individual cells. Novel experimental methods including gene-editing approaches, the development of disease-relevant cell-based model systems, spatial transcriptomics and high-throughput multimodal screening, alongside developments in data science and artificial intelligence, mean that now is the perfect time to launch an initiative aimed at systematically characterising the functional consequences of disease-associated genetic variation. The UKRI functional genomics initiative will catalyse discoveries into the mechanistic underpinnings of health and disease by identifying causal variants and modelling their impact in disease-relevant cell-types across key stages of development. It will foster and facilitate innovation and collaboration among multidisciplinary teams, creating a dynamic and nimble ecosystem that accelerates the translation of functional genomic research into tangible benefits for health and well-being. The initiative will also capitalise on the UK's exceptional infrastructure for translating biomedical research into improved clinical care. For example, by linking with the network of NIHR Biomedical Research Centres, there is the potential to rapidly develop genomic biomarkers for early diagnosis and facilitate patient stratification for clinical trials. Ultimately, the initiative has the potential to leave a lasting legacy, building capacity in functional genomics in the UK and providing support for the next generation of researchers in this area.

英国在功能基因组学方面拥有巨大的优势，这是一个令人兴奋的研究时机，旨在表征不同发育阶段和生理系统中遗传变异对细胞表型的影响机制。技术进步意味着我们现在可以以前所未有的规模和准确性对基因组进行测序，还可以描绘单个细胞的表观遗传调控和转录变异。新的实验方法，包括基因编辑方法、开发与疾病相关的细胞模型系统、空间转录和高通量多模式筛选，以及数据科学和人工智能的发展，意味着现在是发起一项旨在系统表征与疾病相关的基因变异的功能后果的倡议的完美时机。UKRI功能基因组学倡议将通过识别因果变异并模拟它们在发育关键阶段对与疾病相关的细胞类型的影响，将发现转化为健康和疾病的机制基础。它将促进和促进多学科团队之间的创新和合作，创造一个充满活力和灵活的生态系统，加速将功能基因组研究转化为对健康和福祉的切实好处。该倡议还将利用英国独特的基础设施，将生物医学研究转化为更好的临床护理。例如，通过与NIHR生物医学研究中心网络连接，有可能快速开发用于早期诊断的基因组生物标记物，并促进临床试验的患者分层。最终，该倡议有可能留下持久的遗产，建设英国功能基因组学的能力，并为该领域的下一代研究人员提供支持。