UCL Great Ormond Street Institute of Child Health


Great Ormond Street Institute of Child Health


UCL Gene Function Pipeline

The UCL Gene Function Pipeline (UCL-GFP) was formed in 2014 to streamline the functional validation of human disease genes, and to facilitate the translation of human genetic findings into a better understanding of gene function and new treatments for disease.

Next generation sequencing (NGS) technologies have revolutionized human genetics, with the discovery of Mendelian disease genes occurring at an unprecedented rate. The UCL-GFP was established to bring together expertise across UCL covering all of the major disciplines and facilities that are typically required to validate the functional effects of mutations identified in patients, and to characterize the function of disease genes.

Specific aims of the UCL-GFP are:

  • To generate a network of experts and facilities across UCL, so that world-leaders in the analysis of gene function can quickly be identified for collaborative projects following disease gene identification.
  • To form a steering committee to advise on the most appropriate functional experiments to promote rapid publication in high-impact journals and clinical translation of findings.
  • To form partnerships with funding bodies and industry to support focused collaborative projects, as advised by the steering committee.

A full list of UCL expertise within the UCL-GFP including Keywords can be found on the Network pages.