Strategic Aim: Researchers in our section, across UCL and GOSH, aim to understand the workings of the genome to better personalise disease treatment in children.
To do this, we combine the computational and experimental identification of rare genetic variants with technologies able to assess their functional impact in rare disease.
In particular, we use cellular, animal and population models, along patient studies, to probe the health consequences of this variation, finding ways to improve diagnosis, prognosis and treatment at the NHS. We apply a number of bulk and single-cell genomic technologies, provided by UCL Genomics and the North Thames Genomic Laboratory Hub, and aim to integrate them with other omics approaches (e.g. epigenomics, proteomics and metabolomics) to better understand disease phenotypes. AI is a growing area in the section. We lead the Personalised Medicine and Novel Therapies MSc and contribute to the teaching of the Cell and Gene Therapy MSc at ICH.
Our work is supported by multiple funders, notably the NIHR GOSH BRC, MRC and different rare disease charities. We are grateful to them and are also happy to host fellowship applicants.