Rare Daily Staff

The Foundation for Prader-Willi Research and the Angelman Syndrome Foundation are funding what they called “the world’s largest newborn screening study” for four rare genetic disorders: Angelman, Prader-Willi, Fragile X and Dup15q syndromes.

In a pilot study, David Godler, associate professor at the Murdoch Children’s Research Institute in Melbourne, Australia, will screen 75,000 newborns, establishing the feasibility of the test for large-scale screening. The Victorian Medical Research Acceleration Fund is contributing $100,000 toward the project.

“Newborn screening means families with loved ones with Angelman, Prader-Willi, Fragile X and Dup15q syndromes will find a diagnosis in weeks instead of years, avoiding a painful diagnostic journey,” said Eileen Braun, executive director of the Angelman Syndrome Foundation and mother to a young woman with Angelman syndrome. “And, if we can diagnose individuals earlier, we have the best chance of reversing the effects and improving their quality of life much sooner.”

Current rates of incidence of Prader-Willi syndrome and Angelman syndrome vary widely from 1:12,000 and 1:30,000 live births. The organizations said the study will help understand the true incidence and full spectrum of these disorders in the population.

“I believe the prevalence of these disorders is underestimated, because all tests used to diagnose these conditions were developed more than 10 years ago and are not as sensitive,” says Godler. 

The study was inspired by his previous work to develop a test called MS-QMA, which can accurately diagnose Fragile X syndrome, a common genetic disorder linked to autism spectrum disorder. With additional funding, he found the test could also be used to screen for PWS, AS and Dup15q. His Fragile X test is being tested on samples of 100,000 babies, thanks to an earlier $800,000 grant from the Australian National Medical Research Council and a $500,000 grant from the Australian Federal Government’s Medical Research Future Fund fellowship.

“My dream is to one day have our tests included in newborn screenings around the world,” says Godler. “That means the families with babies with these conditions get the support and care they need from day one.”

Photo: Eileen Braun, executive director of the Angelman Syndrome Foundation