MAGEL2 is one of the key genes involved in Prader-Willi syndrome and the cause of another rare syndrome: Schaaf-Yang syndrome. The Foundation for Prader-Willi Research (FPWR) has funded a number of studies to understand how MAGEL2 normally functions, and how loss of MAGEL2 function causes the symptoms associated with SYS and PWS. Here are a few studies that have been funded:

  • The MAGEL2 Phenotype in comparison to classic Prader-Willi Syndrome
  • Loss of Magel2 and Hypotonia in Prader-Willi Syndrome
  • Oxytocin treatment in Magel2 deficient mice
  • Linking the cellular function of Magel2 to its role in PWS
  • Evaluation of autism-like behaviors in mice deficient for Magel2
  • How does Oxytocin cure early feeding and adult social behavior alterations in MAGEL2 deficient mice
  • Injectable protein based gene activation therapy for PWS
  • Inhibitory circuits and transmission in the hypothalamus in a mouse model of PWS
  • Development of appetite-related neural circuits in a mouse model
  • Oxytocin actions on prefrontal cortical circuits in a mouse model
  • Development of leptin disregulation in a mouse model of obesity in PWS.

Click here to learn more about Schaaf-Yang syndrome.