Hope in the Making: Heidelberg Research Team Shares Key Updates in Schaaf-Yang Syndrome

August 14, 2025

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 focused on Schaaf-Yang syndrome (SYS) and the

GeneSYS: Charting a New Course for SYS Treatment

August 5, 2025

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. Why GeneSYS

Considering Growth Hormone Therapy? Here's What We Know.

July 29, 2025

For families exploring growth hormone therapy for loved ones with SYS, a 2021 study by Hebach et al. offers helpful insight. Growth hormone (GH) has long been used to support height, body composition, and development in individuals with Prader-Willi syndrome

Inside the Cell: MAGEL2 Mislocalization and What It Means for SYS Research

July 24, 2025

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

'It’s a Beautiful Gift I Never Expected' Says SYS Hero and Mom

June 4, 2025

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

Exploring How MAGEL2 Affects the Brain—And What Happens When It Doesn’t Work

May 27, 2025

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)? That’s the question guiding a newly funded research project supported by FPWR in the spring of

Announcing the Launch of the Global Schaaf-Yang Syndrome Registry

March 17, 2025

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. SYS is a rare genetic neurodevelopmental disorder caused by mutations in the MAGEL2 gene. Clinical

'She Gets Stronger Every Day' Says SYS Mom Inspired by Daughter

February 8, 2025

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

Sleep and Schaaf-Yang Syndrome [2023 CONFERENCE VIDEO]

April 4, 2024

In this 74‑minute video, Dr. Joanna Wrede, a pediatric sleep neurologist at Seattle Children’s Hospital, explains how sleep disorders are identified and treated in children with Schaaf-Yang syndrome. Click below to watch the video. If you're short on time, scroll

A New Rat Model for the Study of Features Underlying Schaaf-Yang Syndrome

May 9, 2023

Mice have long been the preferred mammal model in research labs due to their cost, size, and tractable genetics. Their behavioral simplicity, however, limits a researcher’s options for studying the component features that may serve as surrogate measures of intellectual