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
- Castellano Group - Professor Sergi Castellano
- Chitty Group - Professor Dame Lyn Chitty
- Ryten Group - Honorary Professor Mina Ryten
Senior Researchers
- Jose Moreno Villena (BRC Catalyst Fellowship) - Research Fellow
- Yara Sanchez-Corrales – Computational Research Fellow
- George Hall – Computational Research Fellow
UCL Genomics Facility:
- 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
Staff List
- Nadua Bayzid: Applications Specialist, UCL Genomics (Microarrays) - n.bayzid@ucl.ac.uk
- Bogdan Chiva Giurca: Applications Support, UCL Genomics
- Lian Chan: Applications Specialist, UCL Genomics - lian.chan.22@ucl.ac.uk
- Rosie Cortaville: Applications Specialist, UCL Genomics - r.cortaville@ucl.ac.uk
- Marius Cotic: Applications Specialist, UCL Genomics (Microarrays) / PhD student
- Patricia Dyal Bynoe: Applications Specialist, UCL Genomics (Sequencing) - p.dyal@ucl.ac.uk
- Leysa Forrest: Applications Specialist, UCL Genomics (Extractions ) / PhD student
- Sian Goldsworthy: Bioinformatician, UCL Genomics
- Aasiyah Haq: Applications Support, UCL Genomics - aasiyah.haq.23@ucl.ac.uk
- Dominic Horner: Applications Specialist, UCL Genomics - dominic.horner.22@ucl.ac.uk
- Emily Hu: Applications Support, UCL Genomics - yi-ting.hu.20@ucl.ac.uk
- Gaganjit Madhan: Applications Specialist, UCL Genomics (QC/Microarrays) - gaganjit.madhan.14@ucl.ac.uk
- Luz Marina Bernal: Research Assistant, UCL Genomics (Sequencing) - luz.bernal@ucl.ac.uk
- Jordan O'Donnell: Applications Specialist, UCL Genomics - jordan.odonnell.23@ucl.ac.uk
- Kerra Pearce: Facility Coordinator, UCL Genomics
- Teodora Popa: Applications Support, UCL Genomics
- Oliver Rushton: Applications Specialist, UCL Genomics - oliver.rushton.23@ucl.ac.uk
- Nurul Sarifah: Applications Specialist, UCL Genomics - nurul.sarifah.22@ucl.ac.uk
- Helena Tutill: Applications Specialist, UCL Genomics (Sequencing)
- Jenny Yoon: Applications Support, UCL Genomics - su.yoon.23@ucl.ac.uk
- Raiyan Higzi: Applications Support, UCL Genomics (Microarrays) - rayian.higzi.24@ucl.ac.uk
- Ali Alhawaj: Post Graduate Teaching Assistant
- Claire Anderson: Research Fellow - claire.anderson@ucl.ac.uk
- Emil Gustavsson: Senior Research Fellow
- Melissa Grant-Peters: Research Fellow
- Amy Hicks: Research Fellow
- Hannah Macpherson: Research Fellow
- Theodoros Xenakis: Research Fellow in single cell genomics
- Jonathan Brenton: Research Assistant
- Sonia García Ruiz: Research Assistant
- Dimah Alrabiah: PhD Student
- Zhongbo Chen: PhD Student
- Sarah Domoney: PhD Student - Sarah.domoney.22@ucl.ac.uk
- Aine Fairbrother-Browne: PhD Student
- Rhiannon Mellis: PhD Student
- Kylie-Ann Montgomery: PhD Student - kylie.montgomery@ucl.ac.uk
- David Murphy: PhD Student - David.Murphy@ucl.ac.uk
- Ben Paternoster: PhD Student - ben.paternoster.23@ucl.ac.uk
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Section Head
Professor Sergi Castellano - Profile Page

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