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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:  


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: Cilia Disorders Section Symposium - hold the date. 


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 have a good knowledge of Biochemistry. You must have experience of working in a scientific laboratory and be proficient in mass spectrometry, biochemistry and molecular biology. You will also have experience of animal husbandry and handling. 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. You will be required to secure an animal Licence from the Home Office, if not already held. 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: 01 April 2024

Research Technician - We are looking for a graduate with a BSc in a Biological Science or similar and have a working knowledge of Biochemistry. You must have experience of working in a scientific laboratory and be proficient in basic biochemistry and molecular biology laboratory techniques including working with DNA and RNA. Ideally you will also have some experience of animal husbandry. 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. You will be required to secure an animal Licence from the Home Office, if not already held. 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: 09 April 2024


Platform Technologies

UCL Genomics logoBiological Mass Spectrometry Centre