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 2025. Dr. Ferdinand Althammer of Heidelberg University in Germany has been awarded a grant to help find answers.
His study, titled Investigation of Magel2 Expression Patterns in a Novel Rat Model for Schaaf-Yang Syndrome, focuses on understanding where and when MAGEL2 is expressed in the brain—and what happens when it’s not. To do this, Dr. Althammer is using a new rat model of SYS, which will allow researchers to closely mimic the genetic and neurological aspects of the condition.
Why does this matter?
MAGEL2 plays a vital role in brain development and function, but exactly how it works is still being unraveled. One area of focus in this study is how MAGEL2 may influence the brain’s circadian rhythm regulation—the internal clock that helps control sleep-wake cycles, metabolism, and hormone release. Disruption in this system could help explain some of the challenges faced by individuals with SYS, including sleep disturbances, behavioral issues, and developmental delays.
Understanding how SYS develops at the molecular level is a key step toward developing therapies that target the root causes of the disorder—not just the symptoms. While this isn’t a clinical trial, it lays the essential groundwork for the next phase of treatment development.
“Our hope is that by better understanding the normal and abnormal expression of MAGEL2 in the brain,” says Dr. Althammer, “we will be able to identify the neuronal circuits that underlie specific disease symptoms, which may be targeted by future therapies.”
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Read the lay summary and abstract:
Investigation of Magel2 expression patterns in a novel rat model for Schaaf-Yang syndrome
