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.
It applies to potentially thousands of different diseases, and it can even be used to detect new ones by providing the evidence needed to confirm that a genetic change is the likely cause of the disease.
Importantly, the proteomic test is minimally invasive, requiring only 1 ml of blood from infants and with results available in under three days for patients in acute care.
"When the test is also performed on blood samples from parents, we call it trio analysis. In recessively inherited conditions, this helps considerably in differentiating between carriers, who only have one copy of the defective gene, and the affected individual who carries two copies," Hock said.
Besides early detection and hope of better outcomes, replacing a battery of targeted tests with a single analysis can also cut down costs for patients as well as for healthcare systems.
— IANS
Reader Comments
This is revolutionary for Indian parents! So many families spend years going from doctor to doctor without answers. If this test becomes available here, it could save so much heartache. Hope our government considers funding this research too ðŸ™
Great innovation but I worry about affordability. Even if the test itself is cheaper than multiple tests, will Indian hospitals charge lakhs for it? Our healthcare system needs price regulation for such advanced diagnostics.
As a pediatrician in Mumbai, I'm cautiously optimistic. The 3-day turnaround is impressive, but we need to see how it performs with our diverse Indian population. Genetic variations differ across ethnic groups - hope they've considered this in their research.
Why are we always waiting for Western countries to develop such technologies? India has brilliant scientists too. Our ISRO shows what's possible with proper funding. Time to invest more in medical research! #MakeInIndia
My nephew has an undiagnosed condition since birth. This gives me hope! But will it reach small towns in India or just remain in metro hospitals? Healthcare shouldn't be only for the privileged few. Govt should make this accessible to all.
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