Newborn Screening - Getting the Answers We Need

September's Newborn Screening Awareness Month, highlighted the need of ensuring Dup15q Syndrome is on the Newborn Screening Panel.

We are excited to announce a collaboration with Angelman Syndrome Foundation, FAST - Foundation for Angelman Syndrome Therapeutics, and The Foundation for Prader-Willi Research in funding a grant to add chromosome 15 conditions to the Early Check Newborn Screening Panel.

The Foundation for Angelman Syndrome Therapeutics (FAST), Angelman Syndrome Foundation (ASF), Dup15q Alliance and Foundation for Prader-Willi Research (FPWR) announce a collaborative initiative to fund the addition of chromosome 15 conditions to Early Check, a flexible framework amenable to screening for a variety of conditions. Led by RTI International, Early Check will support the infrastructure necessary to add Angelman syndrome, Prader-Willi syndrome, and Dup15q syndrome to the Newborn Screening Panel.

Early Check was developed to create the necessary infrastructure for rare diseases to be included in the Newborn Screening Panel. The results from Early Check studies provide evidence for true disease prevalence, patterns of symptom onset, natural history and clinical outcomes, all of which are necessary to accelerate development of new outcomes, including the implementation of screening for new conditions.

"Newborn screening is an important public health program that helps identify infants with conditions before symptoms emerge, allowing for earlier treatment and eliminating the often stressful diagnostic odyssey for families," said Anne Wheeler, Ph.D., research public health analyst for RTI International.

"The Early Check program in North Carolina was designed to help rare conditions, like Angelman, Prader-Willi and Dup15q syndromes, build the evidence needed to make a case for adding newborn screening to state panels. This project will provide the funding to build an infrastructure to add chromosome 15 conditions to the Early Check panel and develop evidence of benefit for newborns with these conditions and their families."