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.

Project Investigators

Project leaders engage with and draw upon the expertise of partners within universities, research institutes and hospital and health services around Queensland.

Dr Chirag Patel, Genetic Health Queensland (lead)

Dr Julie McGraughran, Genetic Health Queensland

Dr Di Milnes, Genetic Health Queensland

Dr Michael Gattas, Genetic Health Queensland

Dr Karin Van Spaendonck-Zwarts, Genetic Health Queensland

Dr Luregn Schlapback, Queensland Children’s Hospital

Dr Pieter Koorts, Metro North Hospital and Health Service


other whole of life projects