Welcome to the home of the Marbach-Schaaf Neurodevelopmental Syndrome (MASNS) Foundation — dedicated to improving the lives of families affected by MASNS by fostering community, raising public awareness, and advancing research.
News & Events
Publication Alert!
This article compares and contrasts some of the more recently diagnosed cases of MASNS with previous reports. Read the full article: https://onlinelibrary.wiley.com/doi/10.1111/cge.70094
MASNS Foundation joins the AGENDA Network
The MASNS Foundation becomes a member of The Alliance of Genetic Etiologies of Neurodevelopmental Disorders and Autism (AGENDA), a collaboration of patient advocacy groups representing rare genetic conditions associated with neurodevelopmental disorders. AGENDA works with scientists and researchers who focus on understanding pathological gene variants associated with neurodevelopmental disorders and helping families affected by them.
2026 MASNS Family Conference
Planning is underway for the inaugural MASNS Scientific, Medical, & Family Conference, set to take place on July 23rd & 24th, 2026 in Heidelberg, Germany! More details to follow. Please reach out to us (contact@masnsfoundation.org) if you’re interested in attending or receiving updates.
The Journey to a Diagnosis
In a recent Newsweek article, mother Kaitlyn Jones (@kjones217) shares the emotional journey that led to her son Gavin’s diagnosis with MASNS. Read the full article here.
MASNS Recognized by NORD
As of May 2025, the National Organization for Rare Disorders (NORD) has officially recognized Marbach-Schaaf Neurodevelopmental Syndrome as a discrete disorder. This is a key step in developing public awareness and broadening support for MASNS through increased visibility, credibility, and eligibility for funding opportunities. NORD is also deeply involved in advocacy efforts at the federal, state, and local level to support legislation that aims to benefit those with rare diseases. View the NORD entry for MASNS here.
