University of Melbourne Develops Rapid Blood Test Diagnosing Rare Genetic Diseases in Children

Researchers from the University of Melbourne and the Murdoch Children’s Research Institute have developed a rapid blood test that can diagnose rare genetic diseases in infants and children within days, potentially replacing invasive and costly procedures like muscle biopsies. This test analyzes the pathogenicity of thousands of gene mutations simultaneously, addressing the diagnostic gap left by genome sequencing, which currently provides answers in only about half of cases. The new method can detect abnormalities in up to 50% of all known rare genetic diseases, including mitochondrial disorders, and has demonstrated greater sensitivity and speed compared to existing tests. This advancement offers families quicker diagnoses and earlier access to treatment, improving survival chances and providing closure in cases of undiagnosed genetic conditions. Additionally, it can inform reproductive decisions through IVF by identifying genetic mutations responsible for disease. The research, published in Genome Medicine, signals a significant step forward in managing rare genetic disorders and reducing the diagnostic odyssey faced by many families.