Testing the waters in genetic screening

AURORA, Ill. & WALNUT, Calif.—In early November, the Angelman Syndrome Foundation and the Foundation for Prader-Willi Research announced funding to support the world’s largest newborn screening study for four rare genetic disorders: Angelman, Prader-Willi, fragile X and Dup15q syndromes. The Victorian Medical Research Acceleration Fund this year also contributed $100,000 toward the project.

In a pilot study, David Godler—an 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.

“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. And, if we can diagnose individuals earlier, we have the best chance of reversing the effects and improving their quality of life much sooner,” said Eileen Braun, executive director of the Angelman Syndrome Foundation.

“Having a cost-effective test to accurately diagnose these syndromes in the newborn period is key to ensuring that families receive optimal medical care and support,” added Theresa Strong, director of research programs for the Foundation for Prader-Willi Research. “The study will validate the newborn screening tool so that, once approved for use, it can be used to screen all babies in the newborn period.”

The study was inspired by Godler’s 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 the other three syndromes.