US EditionWorld-First Blood Test Rapidly Diagnoses Rare Genetic Diseases in Babies
- In 2024, a team of scientists based in Australia developed an innovative blood test that enables rapid diagnosis of numerous rare genetic disorders in infants.
- This test emerged from the limitations of genome sequencing, which only diagnoses about half of rare disease cases, leaving many families without clear answers.
- The test analyzes thousands of gene mutations in a single sample, detecting abnormalities within days and reducing the need for invasive procedures like muscle biopsies under general anaesthetic.
- David Stroud explained that their breakthrough method is capable of analyzing every protein present in a given sample, which represents approximately half of the genes known to cause rare diseases.
- This breakthrough allows earlier treatment, offers reproductive confidence for families like the Grays, and is expected to diagnose hundreds of Australian patients annually, improving clinical care.
12 Articles
12 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…
Now Accepting Applications: iHope Genetic Health Clinical Sites
DAMASCUS, MD, UNITED STATES, May 23, 2025 /EINPresswire.com/ -- Genetic Alliance is now accepting applications for new clinical sites to join the iHope Genetic Health (iGH) program, which provides no-cost genomic testing to families from low- and middle-income communities with children suspected of having rare genetic diseases. Application Deadline: Rolling submissions reviewed upon receipt, final deadline June 20, 2025 Apply now: https://forms.…
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 […]
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