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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 byÌýUCL GenomicsÌýand theÌý, 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 theÌýPersonalised Medicine and Novel Therapies MScÌýand contribute to the teaching of theÌýCell and Gene Therapy MScÌýat 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.

• Professor Dame Lyn Chitty
• Associate Professor Harry Leitch

Senior Researchers

• Dr Mark Kristiansen
• Dr Rachel Williams
• Dr Tony Brooks
• Dr Sunando Roy