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

Thursday, 27 June 2024: UCL Senior Promotions 2023-24 in GGM

Dr Haiyan Zhou (Molecular Basis of Rare Diseases) to Professor of Genetic Medicine

Dr Naresh Hanchate (Molecular Basis of Rare Diseases) to Principal Research Fellow

Tuesday, 18 June 2024:  Blood test could predict Parkinson’s seven years before symptoms

A team of researchers, led by scientists at UCL including senior author Professor Kevin Mills, co-author Dr Jenny Hällqvist and GGM colleagues, and University Medical Center Goettingen, Germany, have developed a simple blood test that uses artificial intelligence (AI) to predict Parkinson’s up to seven years before the onset of symptoms.

Monday, 10 June 2024:  New blood test could prevent sudden child deaths caused by heart condition

A new blood test that could identify children with a potentially fatal heart condition has been developed by researchers at UCL and Great Ormond Street Hospital (GOSH), including co-author Professor Kevin Mills (GGM).

Monday, 20 May 2024: Maria Bitner-Glindzicz Travel and Conference Fund is now open for applications.

Deadline is 5pm Wednesday 18 September 2024. 

No current events

Details of past news and events

Department job opportunities

Research Fellow - closing date 31/08/2024

We are seeking to appoint a highly enthusiastic postdoctoral research fellow to join a large national programme on establishing a UK platform for Nucleic Acid Therapeutics for rare disease (UPNAT Node), supported by the UKRI MRC and NIHR. The role offers the appointed individual a unique opportunity to develop a strategic framework to identify rare disease-associated variants amendable to NATs. The research fellow will be mentored by a diverse range of expert researchers, clinician scientists and bioinformaticians, alongside benefiting part of a rich collaborative network. The research fellow will also get the opportunity to develop pre-clinical NAT targets using a broad range of molecular and cell biology-based approaches. The postdoctoral research fellow will be responsible for conducting experiments on executing genetic data analysis with investigators and databases associated with UPNAT, and testing NATs designed for the targets selected by the Target Selection Working Group in the Node. The post will be allocated in the Zhou lab at the Great Ormond Street Institute of Child Health (GOSICH), full time for 2 years with possibility of extension.

Platform Technologies

UCL Genomics logoBiological Mass Spectrometry Centre