What if we could target the very root of Schaaf-Yang Syndrome (SYS) and dramatically change the trajectory of this condition? With the launch of GeneSYS, the Foundation for Prader-Willi Research is taking a bold leap in that direction.
SYS stems from a mutation in the MAGEL2 gene, which causes cells to produce a defective protein. This abnormal protein is believed to be the source of many of the challenges faced by individuals with SYS. Researchers have identified an individual who is missing the MAGEL2 gene entirely—without any other genetic deletions—and yet showed no signs of SYS or Prader-Willi syndrome (PWS). This rare case suggests something powerful: it’s not the absence of the gene that causes harm, but the presence of its mutated version. If we could stop that faulty protein from being made, we may be able to change lives.
GeneSYS is a multi-phase research initiative designed to explore whether we can remove the faulty Magel2 protein from the cell using antisense oligonucleotides (ASOs)
Discovery Phase: Scientists will identify ASOs—specialized molecules that can prevent cells from making the faulty MAGEL2 protein.
Testing & Refinement: Promising ASOs will be tested and evaluated to determine which ones hold the most potential.
Paving the Way Forward: These early efforts will set the stage for the development of the very first treatment specifically for SYS.
This is more than a research project—it’s a strategic move rooted in both science and urgency. By removing the toxic effects of the faulty MAGEL2 protein, we may be able to improve the quality of life and unlock new possibilities for those living with SYS.
GeneSYS is only possible because of the collective determination of families, scientists, and supporters like you. Together, we're not just imagining a better future—we’re building it.
Watch the video below, then click here to join our efforts.