Director of 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.

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.