Rare diseases in paediatric & neonatal ICU
Identifying rare diseases in children early.
Paediatric genetic disorders are a major cause of neonatal and infant deaths, and paediatric hospital admissions.
This project will explore the use of rapid whole genome sequencing as a first line tool in the diagnostic pathway for babies and children in intensive care with suspected rare disease.
The whole genome of the child and both parents will be sequenced and analysed, with the aim of providing an accurate genetic diagnosis within ten days.
This is a clinical innovation project, which explores new applications of medical genomics in clinical practice.