A generous grant provided by the Rosetrees Trust (a charity based in London, UK) will greatly enable progress in genomic research for the benefit of children both locally in Cambridge and nationally across the UK.

This award will build on the extraordinary progress of the Next Generation Children’s Project, the largest whole genome sequencing study of intensively ill children in the world, to implement tools directly in the NHS to benefit children with rare monogenic diseases. There are over 7000 such disorders collectively called “rare” – in fact, it is estimated that about 5% of the population or more is affected by such disorders. These can be very serious, precipitating admission to ICU or even causing death within the first 5 years of life.

Cambridge Children’s Hospital genomic centre is dedicated to improving diagnostics and transformative therapies for these disorders. Not only will the new funding allow for implementation of state-of-the-art diagnostic tools in the East Genomic Laboratory Hub, serving the East of England, it will also promote “functional” genomics integrating the basic science community on the Cambridge Biomedical Campus. This will help us provide new insights and therapeutic approaches for children that may have no other options.

The NeuralNET project involves the NHS, Illumina UK and the University of Cambridge.