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World-First Blood Test Rapidly Diagnoses Rare Genetic Diseases in Babies
- A team of scientists affiliated with institutions in Melbourne has created a blood test capable of quickly identifying rare genetic disorders in infants, with implementation expected by 2025.
- The test addresses challenges in diagnosing rare diseases, where genome sequencing only works in about half of cases, leaving many undiagnosed children like two-year-old Kye Gray.
- The test screens thousands of genes simultaneously, detecting abnormalities within days and reducing the need for invasive procedures such as muscle biopsies requiring general anaesthetic.
- Ms Gray explained that the test has provided crucial clarity for families who previously faced uncertainty for an extended period, allowing for earlier diagnosis and treatment opportunities.
- The test could enable diagnosis of hundreds of patients yearly in Australia, improve treatment options, and restore reproductive confidence by allowing testing in future pregnancies.
11 Articles
11 Articles
Groundbreaking blood test rapidly diagnoses rare genetic diseases in babies
Two-year-old Kye Gray is the only Australian with an ultra-rare genetic condition called Leigh's Disease.The neurological condition robs the body of energy and causes progressive cognitive and physical decline.Like many parents of children with rare illnesses, mum Louise Gray was anxious to find the source of her baby's symptoms.LIVE UPDATES: Fourth person killed in flood crisisBut she said the family ran the gauntlet of medical question marks b…
New blood test to boost diagnosis for rare genetic diseases in kids
New Delhi, May 23 (IANS) Australian researchers have developed a new blood test that can rapidly diagnose rare genetic diseases in babies and children. The simple blood test, developed by researchers from the University of Melbourne and Murdoch Children’s Research Institute (MCRI), eliminates the need for costly and invasive procedures. It can rapidly detect abnormalities […]
New blood test to boost diagnosis for rare genetic diseases in...
Last Updated on May 23, 2025 by Team THIP New Delhi, May 23 (IANS) Australian researchers have developed a new blood test that can rapidly diagnose rare genetic diseases in babies and children. The simple blood test, developed by researchers from the University of Melbourne and Murdoch Children’s Research Institute (MCRI), eliminates the need for […] The post New blood test to boost diagnosis for rare genetic diseases in kids appeared first on T…
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