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UCL Great Ormond Street Institute of Child Health

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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.

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News and events

News:  


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.

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


Events: 


Thursday 25 April 2024: 

You are warmly invited to join us at the 2024 ICH Genetics and Genomic Medicine - Cilia Disorders Section Symposium: Progress in Cilia and Ciliopathies

This is a hybrid event held in the Leolin Price Lecture Theatre, UCL Great Ormond Street Institute of Child Health & online via Teams. Each talk will be followed by Q&A. A reception will follow for those attending in-person.

 Registration details here. 


Details of past news and events

Department job opportunities   

Research Fellow - we are looking for a Post-Doc with a BSc and a PhD in a Biological Science or similar and a good knowledge of Biochemistry. You must have experience of working in a scientific laboratory and be proficient in mass spectrometry, including LC-MS/MS, and biochemistry, and must have knowledge of how to set up methods to quantify compounds in samples. You will work as part of a team on this research study and will be involved in evaluating the efficacy of various RNA therapies at reducing the levels of the neurotoxic metabolites that occur in the lysine catabolic disorders in various model systems. In addition to conducting the research, you will be involved in reporting the progress of the research to the funders of this grant on a monthly basis as well as communicating the results in scientific presentations. Closing date: 02 May 2024.


Platform Technologies

UCL Genomics logoBiological Mass Spectrometry Centre