Following NIHR Great Ormond Street BRC support, which led to the creation of a high-throughput targeted proteomic urine test, Dr Wendy Heywood has been awarded an industry investigator initiated award from Shire Pharmaceuticals.
The Rapid Paediatric Sequencing Project (RaPs) is a pilot project aimed at evaluating the use of rapid whole genome sequencing (WGS) for rare diseases in a clinical setting. Successful results have been received from the first patients to have taken part.