New Delhi, May 26
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.
"Our new test can identify more than 8,000 proteins in peripheral blood mononuclear cells (PBMCs) covering more than 50 per cent of known Mendelian and mitochondrial disease genes, as well as enable us to discover new disease genes," Hock said.
The new test is unique as it sequences proteins rather than the genes themselves, and the data can help understand how changes in the gene sequence affect its corresponding protein's function and lead to disease.