Australian researchers have developed a new, rapid testing method to help diagnose rare diseases in babies and children.
There are more than 7,000 types of disease caused by mutations in more than 5,000 known genes, affecting approximately 300 million individuals worldwide.
Currently, about half of all patients with a suspected rare disease remain undiagnosed, and existing testing methods for undiagnosed conditions are typically slow.
Researchers from the University of Melbourne developed a new blood-based method of analysing thousands of proteins in a single, untargeted test.
The DNA sequence of most genes is the code to produce proteins, the molecular machines of our cells and tissues, said Dr. Daniella Hock, a Senior Postdoctoral student at the varsity, while presenting the research at the annual conference of the European Society of Human Genetics in Germany.