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

Senior Researchers

UCL Genomics Facility:

Staff List

Section Head

Professor Sergi Castellano - Profile Page

Professor Sergi Castellano

Contact us

ich.ggm.admin@ucl.ac.uk (not secure for patient identifiers)

Genome Biology and Precision Medicine Section
UCL Great Ormond Street Institute of Child Health
Genetics and Genomic Medicine Department
Zayed Centre for Research into Rare Disease in Children
20 Guilford Street
London
WC1N 1DZ