Our researchers 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, single cell and spatial 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 contribute teaching to the Cell, Gene and Novel Therapies MSc at ICH.
Our work is supported by multiple funders, notably the NIHR GOSH BRC, MRC, GOSH Children’s Charity and other rare disease charities. We are grateful to them and are also happy to host fellowship applicants.
Research Groups
- Jose Moreno Villena (BRC Catalyst Fellowship) - Research Fellow
- Yara Sanchez-Corrales – Computational Research Fellow
- George Hall – Computational Research Fellow
- Dr Mark Kristiansen - Head of Facility
- Dr Rachel Williams - Head of Sequencing
- Dr Tony Brooks - Genomics Lead - a.brooks@ucl.ac.uk
- Dr Sunando Roy - Bioinformatics Lead
- Nathan Dunton - Microarrays Lead - nathan.dunton.19@ucl.ac.uk
- Saba Asam - Single cell and Spatial Lead - s.asam@ucl.ac.uk
Section Head