Researchers at the University of Melbourne have created a groundbreaking blood test that can quickly diagnose rare genetic diseases in newborn babies. Unlike traditional methods, which often need invasive procedures and weeks of waiting, this test delivers results within days. It requires only one milliliter of blood, making it much less stressful for infants and families.
The new test works by analyzing protein patterns in blood cells. It then compares these patterns to healthy profiles to identify disease-causing genetic mutations. This method offers a faster, more accurate way to detect conditions, especially mitochondrial disorders, which affect the body’s energy production.
Experts say this innovation could raise the detection rate for these rare diseases from 50% to up to 70%. Early diagnosis means families can access treatment sooner, improving health outcomes for affected newborns. It also helps families plan for the future by providing clear genetic information.
Specialists in pediatric genomic medicine have praised the test as a major advancement. They recommend that healthcare systems adopt this technology widely to improve early diagnosis and care for infants worldwide.
This rapid blood test signals a promising future for newborn health and genomic medicine, with potential to reduce delays and uncertainties in diagnosing rare genetic disorders.