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


Tuesday 23 January 2024: Maria Bitner-Glindzicz Travel and Conference Fund is now open for applications. Deadline is 17:00 Wednesday 15 May 2024. 


Thursday 25 April 2024: Cilia Disorders Section Symposium - hold the date. 

Details of past news and events

Department job opportunities   

Clinical Associate Professor / Clinical Professor and Honorary Consultant Clinical Geneticist - We invite applications from outstanding clinical academic investigators with a strong collaboration record and sustained high levels of research productivity. Eligible candidates should have expertise in genetics and genomic medicine research. We are particularly keen to attract those that can take advantage of the strong links between the UCL GOS Institute of Child Health and Great Ormond Street, and as honorary consultants, contribute to the work of appropriate clinical services. You will also have substantial experience in teaching and education and show a commitment to providing outstanding training for students, junior scientists, and clinicians. Closing date: 29 February 2024. 
Researcher – Biology - NATA 2363 - We are seeking to appoint a highly motivated and enthusiastic scientist to work on a collaborative project between NATA and University College London (UCL). The project aims to develop personalized antisense oligonucleotide (ASO) therapy for primary ciliary dyskinesia (PCD), a rare respiratory disorder affecting cilia function. The researcher will work on the design and evaluation of different ASO chemistries and modifications using airway cellular models, including air-liquid interface cultures. They will use optimal analytical methodologies to assess the efficacy of novel ASOs at RNA, protein and functional levels. The successful candidate is expected to have a strong work ethic, knowledge in nucleic acid drug development and to be experienced in cell and molecular biology. The NATA employee will be seconded to work full-time in the laboratories of Prof Hannah Mitchison and Dr Haiyan Zhou on RNA therapy, in collaboration with the teams of Prof Stephen Hart and Chris O’Callaghan, all based at the UCL GOS Institute of Child Health, London. Closing date: 13 March 2024. 

Platform Technologies

UCL Genomics logoBiological Mass Spectrometry Centre