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.

Sections

Molecular Basis of Rare Diseases

Genome Biology and Precision Medicine

Cilia Disorders

Inborn Errors of Metabolism

News and events

Thursday 19 January 2023: Maria Bitner-Glindzicz Travel Awards

Training and Conference Awards are now available to apply for. Next deadline is 17 May 2023.

Monday 16 January 2023:

Congratulations to Dr Rhys Dore of the Ryten Lab who has been elected as an inaugural member of the UK Young Acadamy. Rhys told us:

"The UK Young Academy is a new collaborative that sits within the global Young Academy movement. It brings together professionals from multiple different sectors to tackle the most pertinent global problems. I am delighted to have been selected as an inaugural member. This means that I will be working with the first cohort to develop the overarching strategy and key priorities of the UK Young Academy. My personal sector is within Clinical Sciences and I plan to promote the importance of effective medical research and the need to reduce inequities in healthcare. I look forward to working with other members to develop innovative plans that create positive societal change."

Monday 06 February 2023: Maria Bitner-Glindzicz and Molecular Basis of Rare Diseases Symposium - 2:00-5:00pm

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

Spaces are limited, so if you would like to attend in person please register today, or else register to join us online on the day.

Details of past news and events