UCL Great Ormond Street Institute of Child Health


Great Ormond Street Institute of Child Health


Genetics and Genomic Medicine

The Genetics and Genomic Medicine Research & Teaching Department is a multi-disciplinary group of researchers with an international reputation for research into rare genetic disorders. Our aims are to deliver better diagnostics through identification of novel disease causing genes and accurate disease biomarkers for targeting of therapies. In order to support our powerful genomics and mass spectrometry technology platforms we create and integrate multi-omics data and its healthcare applications. We develop and run trials of novel therapies in rare disease patient cohorts.


News and events


Wednesday 24 April 2024New national research centres to unlock tests and treatments for rare diseases - UCL scientists will work to help thousands of people living with rare diseases get access to improved diagnostics, treatments and potentially cures, thanks to funding for four new research centres. A new £9.4million LifeArc Centre for Rare Respiratory Diseases will be co-led by Professor Hannah Mitchison (UCL Great Ormond Street Institute of Child Health) alongside academic partners in Edinburgh, Nottingham, Dundee, Cambridge, Southampton and the UKRI Nucleic Acid Therapy Accelerator (NATA) – with the aim of uniting children, adults and families with clinical experts, researchers, investors and industry leaders.

Monday 20 May 2024: Maria Bitner-Glindzicz Travel and Conference Fund is now open for applications. Deadline is 17:00 Wednesday 18 September 2024. 


Thursday 06 June 2024: Illumina bioinformatics solutions to unlock genomic insights in disease – latest developments

To unlock the next wave of omics discovery, we must analyse, manage, aggregate, mine, explore data more efficiently and accurately. Now, we can. Come and learn more about Illumina genomic data platforms to drive scientific insights. We will share the latest developments to help you analyse your data with easily accessible interactive informatics tools.

Thursday 27 June 2024: Establishing a UK Platform of Nucleic Acid Therapy for Rare Disease (UPNAT) Node Inaugural Symposium 

Location: UCL GOS Institute of Child Health (Kennedy Lecture Theatre), 30 Guilford Street, London, WC1N 1EH

Date: Thursday 27 June 2024

Time: 10am-5pm

Registration: tickets via Eventbrite

Details of past news and events

Department job opportunities   


Platform Technologies

UCL Genomics logoBiological Mass Spectrometry Centre