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 sta...
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 ...
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, share...
When Kim Fonseca began thinking about how to celebrate her daughter Lyla’s birthday this year, she knew two things for certain: she wanted it to be simple, and she wanted it to matter. Life with Schaaf-Yang syndrome (SYS) brings intense days — therap...
The GeneSYS project continues to make meaningful progress toward a targeted treatment for Schaaf-Yang Syndrome (SYS), a rare genetic condition caused by a mutation in the MAGEL2 gene. While there is still important work ahead, recent developments are...
When it comes to rare conditions like Schaaf-Yang syndrome (SYS), every story has value. Each symptom, milestone, and lived experience helps deepen our understanding of SYS and strengthens the foundation for better care, support, and future treatment...
Biorepositories play a crucial role in rare disease research, acting as central locations to collect, store, and distribute samples such as tissues, blood, and cells. The Foundation for Prader-Willi Research, in partnership with COMBINEDBrain, has es...
What began as a casual birthday celebration at a local brewery has grown into one of the Schaaf-Yang syndrome (SYS) community’s most heartfelt annual fundraisers. Nearly ten years ago, Leslie and her husband found inspiration in an FPWR event hosted ...
In St. Petersburg, Florida, Chrissy and Matt Dickhaus are raising two little boys who bring light and joy into their lives every single day. Carson, age 3, is the proud big brother to Connor, who recently turned one. To celebrate, the family threw a ...
When Dr. Christian Schaaf began medical school, pediatrics was his plan. But it was the “medical mystery” cases that drew him in, and most of those mysteries had genetic roots. That curiosity eventually led him to identify what would become known as ...
