On Saturday 9 July The Age newspaper in Melbourne featured a story on Fragile X syndrome.
Dr David Godler, from Murdoch Childrens Research Institute is running a very large study to assess the feasibility of including Fragile X syndrome in the newborn heel prick test for babies. The article also featured the Jones family, who have a son, Jimmy, who has Fragile X syndrome.
Extract from the article:
“A groundbreaking test for fragile X in newborns has been developed by a team at Murdoch Children’s Research Institute, and after positive early trials, it is now being used in a pilot study to screen 100,000 Victorian babies.
Researchers are using robots to trial the test on blood spots from the heel prick test newborns have at birth to be screened for other conditions, including phenylketonuria, hypothyroidism and cystic fibrosis.
Geneticist David Godler hopes the $800,000 study will pave the way for the test to be permanently incorporated into newborn screening, which would mean parents of fragile X babies know within days, not years.”
Link to full article on The Age website: