Researchers at the University of Melbourne have developed a blood-based test aimed at expediting diagnoses for children with rare genetic disorders. Currently, genomic testing only yields a diagnosis 50% of the time, leading many to experience long and invasive diagnostic journeys. The new approach enhances genetic testing by analyzing proteins within blood cells, identifying which genetic changes result in problematic proteins. This method can deliver results in as little as three days and has already shown to outperform existing tests for mitochondrial diseases, offering hope for faster, less invasive diagnoses.
"Getting a diagnosis can be arduous. Currently, genomic testing leads to a diagnosis only about 50% of the time, leaving many children without answers."
"This new blood-based test allows us to examine proteins in patients' blood cells, offering a faster and less invasive method to diagnose rare genetic disorders."
"We aim to provide answers and treatments sooner by supplementing genomic testing with our new approach, yielding results in as little as three days."
"The new method outperformed standard tests for mitochondrial diseases, enabling diagnoses in cases where genomic testing had failed."
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