Director of Functional Genomics Initiative

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时刻，旨在研究通过遗传变异影响发育阶段和生理系统的细胞表型的机制。技术的进步意味着我们现在可以以前所未有的规模和精度对基因组进行测序，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、疾病相关细胞模型系统的开发、空间转录组学和高通量多模式筛选，以及数据科学和人工智能的发展，意味着现在是启动一项旨在系统地表征疾病相关遗传变异的功能后果的倡议的完美时机。UKRI的功能基因组学计划将通过识别因果变异和模拟它们在关键发育阶段对疾病相关细胞类型的影响，催化发现成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，创建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健康和福祉的切实效益。该计划还将利用英国卓越的基础设施，将生物医学研究转化为改善的临床护理。例如，通过与国家卫生研究院生物医学研究中心的网络连接，有可能迅速开发用于早期诊断的基因组生物标志物，并促进临床试验的患者分层。最终，该计划有可能留下持久的遗产，在英国建立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。

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.