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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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Maria Bitner-Glindzicz 2024 Early Career Researcher Awards - Application deadline Wednesday, 15 January 2025 (5pm)

We are pleased to announce that the 2024 rounds of Maria Bitner-Glindzicz 2024 ECR Awards are open for applications.

The awards are open to Early Career Researchers (PhD students, Technicians, Research Assistants, Research Fellows/Post-docs/Associates) and clinical trainees affiliated with Clinical Genetics at GOSH. All applicants must work in the area of rare or complex diseases in children.

More information on the ECR Awards (and also the Conference and Training Fund) can be found via this link: Maria Bitner-Glindzicz Awards


Tuesday, 12 November 2024: New hope to prevent blindness in children with rare genetic disease

A new treatment that could prevent blindness in children with the CLN2 type Batten disease has been trialled by clinicians and researchers at UCL and Great Ormond Street Hospital, led by GGM’s Professor Paul Gissen.


Friday, 31 January 2025, 1-5pm: IEM Section Symposium and Otto Wolff Lecture

The symposium will be a hybrid event and open to all. If you are able to attend in-person, we would be delighted if you could join us for refreshments during registration from 12pm.

This year's theme is 'Unlocking the Power of Biomarkers: Advancing Diagnosis, Monitoring, and Treatment of Diseases'

The symposium will open with an Otto Wolff Lecture by Prof Simon Heales.

Registration details here


Details of past news and events

Department job opportunities


Research Assistant - closing date 05/12/2024

The project aims to compare the efficacy of 2 adeno-associated viral (AAV) vectors in a rare disease affecting the liver-based urea cycle, argininosuccinate lyase (ASL) deficiency. ASL deficieny is the second most common urea cycle disorder. This causes acute hyperammonaemia and a chronic systemic disease, affecting especially the liver with fibrosis/cirrhosis. The successful applicant will in charge of the mouse colony, assess efficacy of the neonatal AAV gene therapy, and perform liver immunostaining and analysis of biomarkers at the end of the project. Please see the job description for more details.


Platform Technologies

UCL Genomics logoBiological Mass Spectrometry Centre