New Research Reveals Important Insights about MAGEL2’s Function

June 22, 2026

FPWR-supported scientists have recently published four important studies that provide new insight into MAGEL2, the gene affected in Schaaf-Yang syndrome (SYS) and Prader-Willi syndrome (PWS). These studies represent an important step forward. To develop effective therapies, researchers first need to

Researcher Spotlight: Dr. Rachel Gilmore and Clara Borlinghaus Advance Understanding of Schaaf-Yang Syndrome

May 4, 2026

At Heidelberg University Hospital in Germany, Dr. Rachel Gilmore and medical student Clara Borlinghaus are working together to advance research in Schaaf-Yang syndrome (SYS), a rare genetic condition linked to changes in the MAGEL2 gene. Background and Path to SYS

Researcher Spotlight: Dr. Ferdinand Althammer and the Role of Oxytocin in Schaaf-Yang Syndrome

April 6, 2026

Dr. Ferdinand Althammer is a neuroscientist with a deep commitment to understanding the biology behind Schaaf-Yang syndrome (SYS) — and to ensuring that families remain at the heart of that work. From Oxytocin Research to SYS “I am a neuroscientist

GeneSYS Initiative Spotlighted on RARECast Podcast

March 31, 2026

FPWR’s Director of Research Programs, Dr. Theresa Strong, recently joined Daniel Levine on the RARECast podcast to discuss the GeneSYS initiative—FPWR’s translational research program focused on developing a targeted therapy for Schaaf-Yang syndrome (SYS). Below is a summary of the

Alia’s Journey: From Uncertainty to Unstoppable

March 20, 2026

Alia is our youngest of four. We moved back to Los Angeles from San Francisco while pregnant with her, full of excitement for adding another Pesce to the pond. We had no reason to expect anything out of the ordinary

Top 10 Reasons to Attend the 2026 FPWR Schaaf-Yang Syndrome Conference in Philadelphia

March 18, 2026

Join us October 9–10 in Philadelphia for the annual FPWR Family Conference, a unique gathering dedicated to families and professionals affected by Schaaf-Yang syndrome. Over two powerful days, leading researchers, clinicians, and families from around the world will share the

Celebrating Rare Disease Day: Spotlight on Three Inspiring Families

February 9, 2026

With February 28 marking Rare Disease Day, we honor the courage, joy, and resilience of families living with Schaaf-Yang Syndrome (SYS). It’s a day to raise awareness, celebrate progress, and highlight the critical need for research and support for children

GeneSYS Update: Meaningful Progress Toward a Targeted Therapy for Schaaf-Yang Syndrome

January 29, 2026

During the recent GeneSYS Update Town Hall, FPWR shared encouraging progress on the GeneSYS project, a research initiative focused on developing a targeted therapeutic approach for Schaaf-Yang syndrome (SYS). While this work is still in the early stages, the updates

SYS Glossary of Key Terms

January 22, 2026

Understanding the science behind Schaaf-Yang Syndrome (SYS) can feel overwhelming—but you don’t need to be a scientist to make sense of it. Here’s a clear, family-friendly glossary of key terms you may encounter when learning about SYS, research, or your

Understanding Oxytocin in Schaaf-Yang Syndrome: What Families Should Know

January 6, 2026

Interest in oxytocin as a possible treatment for Schaaf-Yang syndrome (SYS) has been growing in recent years. To help clarify what is currently known, Dr. Christian Schaaf, whose research first identified the MAGEL2 gene changes that cause SYS, shared the