Researchers in Australia have developed a simple blood test that could speed up the diagnosis of rare genetic diseases in newborns. A team at the University of Melbourne has created a method that uses just 1 milliliter of blood to identify harmful mutations linked to serious health conditions. Unlike older methods, which often rely on painful and invasive muscle biopsies, this new test is quick, safe, and delivers results in just a few days.
Doctors often struggle to diagnose rare diseases in babies because symptoms can be vague and tests can take weeks or months. Some of these diseases, like mitochondrial disorders, are hard to detect and require expensive genetic testing and complex imaging. The new test looks at proteins in certain blood cells and compares them with those from healthy individuals. This allows doctors to see which genetic changes are likely to cause disease.
The breakthrough has shown strong results in early trials. According to the research team, the test is more accurate than the current gold standard, especially when checking for mitochondrial problems. The accuracy rate could reach up to 70%, giving doctors and families a better chance at getting clear answers early. With faster diagnosis, babies can begin treatment sooner. Families also gain important information for planning future pregnancies.
Health experts believe this approach marks a major shift in how rare diseases are detected. Professor David Thorburn, who helped lead the study, said the test not only avoids the risks of traditional methods but also helps identify the exact cause of a child’s condition more reliably. “We’re looking at how the disease works at a protein level,” he explained. “That gives us insight into whether a mutation is truly harmful.”
The method works by using a tool called mass spectrometry to examine the proteins in white blood cells. These proteins give clues about how well certain genes are working. If a protein is missing or working differently than it should, it may mean a genetic mutation is causing the problem. In some cases, this type of testing can also help reveal new types of rare diseases that were not known before.
In hospitals, this could be a game changer. Instead of waiting weeks for biopsy results, families may get answers within days. This saves time, reduces costs, and removes the emotional toll of long periods of uncertainty. It also opens the door for early treatments that may prevent or reduce symptoms.
The findings are already drawing attention from health systems in Australia and abroad. Experts are calling for wider use of the test, especially in neonatal intensive care units, where time is critical. If adopted more broadly, this test could help thousands of families each year avoid delays and gain access to better care.
The University of Melbourne team is now working with healthcare providers and genetic labs to bring the test into regular use. They are also exploring how it can be used to check for other rare conditions beyond mitochondrial diseases. Their hope is to include it as part of standard newborn screenings in the future.
With better tools for early diagnosis, more children could get the care they need before symptoms worsen. For families facing the unknown, a test like this offers hope, clarity, and a clear path forward.