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.
Angelman syndrome, Prader-Willi syndrome and Dup15q are collectively recognized as chromosome 15 (C15) conditions. Each condition results in inappropriate DNA methylation patterns, which causes the disruption of imprinted gene regulation. The three conditions have can have very different symptoms, however they each share chromosomal origins and diagnostic options. Angelman syndrome, Prader-Willi syndrome and Dup15q are targets for emerging therapeutics, including promising disease-modifying strategies, that can potentially benefit greatly from early diagnosis. Newborn screening (NBS) provides the only population-based strategy to identify newborns who could benefit from early disease detection and treatment, as well as more accurately understand the prevalence of each disorder in a prospective manner.
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 elimina