UCL Great Ormond Street Institute of Child Health


Great Ormond Street Institute of Child Health


Genetics and Genomic Medicine Programme

GGM Programme 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.

Genetics (and epigenetics) in Health and Disease: to use genetics, imaging and biological indicators to understand predisposition to disease and what constitutes health during childhood and throughout the life course.

Gene and Protein Function: to develop tools,skills and resources to elucidate gene function and to inform development of new therapies using state-ofthe-art technologies.

Translational Genomics: to create, integrate and maintain data and informatics platforms to support genomic, proteomic and other 'omic research and its healthcare applications.

Personalised Medicine and Patient benefit: to ensure basic science discoveries of disease mechanisms and patients' genomes are used to best effect to improve patients' lives. This will include better diagnostics, identification of biomarkers and targeting of therapies.

The Programme is divided into three Sections:

  • Genetics and Epigenetics in Health and Disease
  • Experimental and Personalised Medicine
  • Centre for Translational Omics

Further information about research ongoing in each of these Sections can be found by following the links below



Genetics & Epigenetics in Health and Diseases

Experimental & Personalised Medicine

Centre for Translational Omics

Platform Technologies


UCL Biological Mass Spectrometry Centre

UCL Genomics

UCL Genomics

Research Initiatives

Centre for Inborn Errors of Metabolism

UCL Gene Function Pipeline

The HIGH-5 Programme