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...
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 ...
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’...
A new study sheds light on the clinical characteristics of Schaaf-Yang Syndrome in adults. In addition to other important findings, the study suggests there is more overlap between PWS and Schaaf-Yang Syndrome than previously understood, and confirms...
With the input of experts and parent advocates from the SYS community, a research plan has been developed to guide and accelerate SYS research over the next 3 years. The plan includes a brief overview of the ‘current state of research,' highlights cu...
In 2014, when Emma Nelson was born, NICU staff told her parents, Kim and Justin, to prepare for the worst. But for the next two years, Emma had no diagnosis. Kim and Justin were directed from one specialist to the next trying to find answers to their...
