Scientists at the University of Melbourne have created a new blood test that helps doctors find rare genetic disorders in newborn babies. The test uses only one milliliter of blood and gives results in just a few days. It replaces painful tests like muscle biopsies and helps find the exact cause of the illness by looking at proteins in the blood.
The test works by comparing proteins in a baby’s blood with those from healthy babies. If the proteins look different, doctors can find out which gene mutation is causing the problem. This helps them give the right diagnosis faster.
One of the biggest uses of this test is in finding mitochondrial diseases. These are rare conditions that affect how the body turns food into energy. They can be hard to find using old methods. This new test can raise the success rate of diagnosis to around 70 percent, which is a big improvement.
Getting a quick diagnosis means that treatment can start sooner. This gives the baby a better chance to stay healthy. It also helps parents make better decisions about future pregnancies. When doctors find the cause early, it also reduces stress for the family.
The test has already been used in some hospitals in Australia. Researchers say it could soon be used in many more places around the world. They believe it should be part of the regular newborn checks in hospitals.
Right now, about one in every 2,500 babies is born with a mitochondrial disease. Many of these children do not get a clear diagnosis for months or even years. This new test could change that by giving answers in just a few days.
Doctors and health experts think this test could become a major tool in medicine. It could also help scientists create new treatments by showing which genes and proteins are involved in each disease.
The team that created the test is now working with health services to make it available to more families. They hope that it will become a regular part of care for newborns in the near future.