65

U.S. researchers at the University of Melbourne have created a new blood test that speeds up the diagnosis of rare genetic diseases in infants. The test requires only one milliliter of blood and provides results within days, replacing invasive procedures like muscle biopsies. It works by analyzing proteins in blood cells and comparing them to healthy profiles to identify harmful genetic mutations.

This test is especially effective for mitochondrial disorders and could increase diagnosis rates to 70%. It allows for quicker treatment decisions and better family planning. Experts say this is a breakthrough in pediatric genomic medicine and urge its adoption in national healthcare systems.