Pursuit: Cutting the diagnosis journey for children born with rare genetic diseases

New research by A/Prof David Stroud and Dr Daniella Hock from the Department of Biochemistry and Pharmacology, and Prof David Thornburn from Murdoch Children’s Research Institute recently published in Genome Medicine, details a new diagnostic test to rapidly diagnose rare genetic diseases.

In the Pursuit article ‘Cutting the diagnosis journey for children born with rare genetic diseases,’ A/Prof David Stroud, Dr Daniella Hock and Prof David Thornburn discuss the blood test which is capable of rapidly diagnosing rare genetic diseases in babies and children, eliminating the need for costly and invasive procedures and giving families earlier access to treatment.

Read the full article via Pursuit, the University of Melbourne’s online news, analysis, research and insights channel.

A/Prof David Stroud NHMRC Investigator Fellow & Labortory Head Dept Biochemistry & Pharmacology

Dr Danielle Hock Research Fellow Dept Biochemistry & Pharmacology

Media

University of Melbourne Newsroom, 23 May 2025, 'New blood test developed to rapidly diagnose rare genetic diseases'.

National 9 News, 23 May 2025, 'Aussie trial rapidly tests for thousands of rare diseases in babies and children'.

The Guardian,  24 May 2025, 'Blood test developed that could speed up diagnosis of rare diseases in babies'.