In a recent research update video from the United in Hope 2025 Conference, scientists from Heidelberg University—Dr. Rachel Gilmore, Dr. Ferdinand Althammer, Felix Franke, and Tim Schubert—shared exciting progress from their FPWR-funded studies focus...
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.
For families exploring growth hormone therapy for loved ones with SYS, a 2021 study by Hebach et al. offers helpful insight.
What if the key to treating a rare genetic condition lies not just in whether a protein is present—but in where it ends up inside the cell? This is the case with the MAGEL2 protein, which plays a critical role in cell function and is missing or alter...
A special blog contribution from Roya Malaekeh. People often ask what it was like getting a diagnosis, especially since we had endured a year without one. When I got that phone call from the geneticist, it felt like a boulder was lifted off my chest ...
What does the MAGEL2 gene actually do in the brain—and how does its dysfunction lead to the symptoms we see in Schaaf-Yang syndrome (SYS)?
FPWR is pleased to announce the launch of the Global Schaaf-Yang Syndrome Registry, an online registry for individuals with Schaaf-Yang syndrome (SYS) and their parents/caregivers.
A special blog contribution from Stephanie McDade. Last week Gibson rode a tricycle. She pedaled and steered on her own for a good five minutes on the sidewalk of our city block. This is real progress for a 8-year-old who doesn’t walk independently a...
