Schaaf-Yang syndrome (SYS) is an ultra-rare disorder that was first identified in 2013. It is caused by mutations in the MAGEL2 gene, a gene that is also deleted or inactivated in Prader-Willi syndrome (PWS). Because SYS is a relatively newly describ...
In this 85‑minute video, Dr. Christian Schaaf, medical director and department chair at the Institute of Human Genetics at the University of Heidelberg and visiting professor at the Baylor College of Medicine, explains our understanding of Schaaf-Yan...
We are pleased to announce the recipients of the second round of grants for 2023, totaling $1,000,000 in awards, as part of the Foundation for Prader-Willi Research's (FPWR) ongoing commitment to advancing research in Prader-Willi (PWS) and Schaaf-Ya...
The Foundation for Prader-Willi Research has partnered with COMBINEDBrain to establish a biorepository of blood and urine samples that will help speed treatments for people with PWS and other neurodevelopmental disorders. Biorepositories play a cruci...
Topics: PWS People, Volunteer, SYS
Drug development for new therapies begins with research and discovery. To treat PWS (Prader-Willi syndrome) and SYS (Schaaf-Yang syndrome), we need to understand the differences between individuals with these conditions and typical individuals, right...
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 measu...
In this one hour and 22-minute video, Dr. Christian Schaaf, Department Chair of Human Genetics at Heidelberg University, discusses current research into Schaaf-Yang syndrome (SYS). Click below to watch the video. If you're short on time, scroll down ...
Join us October 6-October 7 for our annual gathering of movers, shakers, thinkers, and doers at this year’s FPWR Family Conference! Here are the top 10 reasons you need to be there:
A special contribution by guest blogger Leslie Born “No degree, or training, or book, or conversation, could have ever prepared me to be the parent of a child with a disability.” – Amanda Griffith-Atkins These words ring so true that some days I can’...
Topics: Stories of Hope, SYS
