Professor Rob Taylor and colleagues at Newcastle University collaborated with scientists from University of Melbourne, Australia, to develop a rapid proteomic pipeline to support genomic testing for patients with mitochondrial and rare disease. Their paper, titled, Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases, was published recently in the journal Genome Medicine.
The single, blood-based test can quickly analyse the effects of numerous genetic mutations at once, potentially speeding up diagnoses for children with rare genetic disorders. This approach could reduce the need for invasive procedures and shorten the lengthy diagnostic process many families currently face. Unlike traditional genomic testing, which only yields a diagnosis in about half of cases, the new method offers a faster and more comprehensive analysis.
Working closely with Associate Professor David Stroud and colleagues from the University of Melbourne, Professor Taylor hopes the test will lead to earlier access to appropriate treatments. He said:
This approach is incredibly exciting, offering a rapid diagnostic functional test to support genetic testing and provide families with definitive diagnoses of rare disease.
“This new blood test will directly impact patient care through being able to offer available treatments quickly.
The new method analyses proteins in blood cells to identify which genetic mutations cause damaged proteins, providing results in as little as three days. This approach outperforms current tests for mitochondrial diseases and could increase diagnostic rates for rare disorders from 30-50% to 50-70%.
The test, initially developed for mitochondrial diseases, is already applicable to around half of the 7,000 known rare diseases, using just 1ml of newborn blood instead of invasive muscle biopsies.
The results of this study support integrating a single proteomics test into routine diagnostics, enabling faster, functional validation of genetic variants in rare disorders. Its broad applicability makes it more cost-effective and could reduce unnecessary tests, benefiting both patients and the healthcare system while aiding families in planning for future children.
Professor Taylor, Scientific Director of the Genomic Laboratory Hub and Professor of Mitochondrial Pathology, and Professor Robert McFarland, Professor of Paediatric Mitochondrial Medicine and Director of the Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, contributed to the study from Newcastle.
Professor Taylor’s team is supported by the new LifeArc funded Centre for Rare Mitochondrial Diseases (LifeArc Translational Centres for Rare Diseases – LifeArc); part of this funding is to work with colleagues in Melbourne to establish a proteomic pipeline alongside the Highly Specialised Services team, to support the genomic diagnosis of patients with mitochondrial disease.
(Featured L-R, Professor Rob Taylor and Professor Bobby McFarland)