‘World’s Largest’ Newborn Screening Study Includes Angelman Syndrome

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by Mary Chapman |

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If successful, an extensive pilot screening study afoot in Australia for Angelman syndrome and three other rare genetic disorders could lead to large-scale testing.

With a contribution from the Victorian Medical Research Acceleration Fund, the Angelman Syndrome Foundation (ASF) and the Foundation for Prader-Willi Research (FPWR) will fund the project that also includes testing for Prader-Willi, Fragile X and Dup15q syndromes. The screening study is billed as the world’s largest such effort.

To be conducted by the Murdoch Children’s Research Institute in Melbourne, Australia, the screening will involve 75,000 newborns. 

“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,” Eileen Braun, ASF’s executive director, said in a press release.

“And, if we can diagnose individuals earlier, we have the best chance of reversing the effects and improving their quality of life much sooner.”

Theresa Strong, FPWR director of research programs, expects the study to validate the tool, likely leading to widespread newborn screening.

“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,” she said.

Such screening would provide early access to standard treatments, which in most cases would benefit patients, said Jessica Duis, director of the Comprehensive Angelman Syndrome and Prader-Willi clinics at Vanderbilt University Medical Center.

“For Prader-Willi Syndrome, this means growth hormones and early intervention therapies that we know from experience have huge benefits,” she said.

With Angelman, life-altering therapies and a future cure could be administered in the babies’ first few weeks. During fetal development, the loss of function of the UBE3A brain gene causes developmental delays, speech impairment, movement or balance disorders, and other symptoms such as seizures.

It often takes three years before individuals with Angelman are diagnosed, delaying therapeutic treatments and producing familial stress. Findings in a 2015 Journal of Clinical Investigation suggested that experimental syndrome treatments must be delivered early in life.

The pilot project also is expected to provide better incidence statistics. Currently, global incidence rates of Angelman and Prader-Willi range from one in 12,000 live births to one in 30,000.

Murdoch associate professor David Godler, who will lead the screening, said obsolete tests have likely resulted in underestimated prevalence data for the disorders.

Godler previously developed a test called MS-QMA, which can effectively diagnose Fragile X, and learned it also works for screenings for Angelman, Prader-Willi and Dup15q.

The MS-QMA test is being tested in samples of 100,000 babies, thanks to an Australian National Medical Research Council grant and an Australian Federal Government’s Medical Research Future Fund fellowship of $800,000 and $500,000, respectively.

“My dream is to one day have our tests included in newborn screenings around the world,” said Godler, whose Fragile X test is currently being used to screen 100,000 babies.