Marbach-Schaaf Neurodevelopmental Syndrome Foundation

07/31/2026

A few more moments from the inaugural International MASNS Scientific, Medical & Family Conference in Heidelberg. 💙

These photos capture what made this gathering so meaningful. Families, clinicians, and researchers learning from one another, sharing ideas, and building relationships that will continue long after the conference ended.

Thank you to everyone who made this unforgettable event possible. We are excited for what lies ahead as we continue working together to advance MASNS research and improve the lives of individuals and families affected by MASNS.

07/28/2026

🌏❤️

🧬 Am 23. und 24. Juli fand an der Universität Heidelberg die erste internationale MASNS Scientific, Medical & Family Conference statt, ein historischer Moment für die MASNS-Community.

Die Veranstaltung brachte Forschende und Fachleute aus verschiedenen Institutionen mit Familien von Kindern zusammen, die vom Marbach-Schaaf Neurodevelopmental Syndrome (MASNS) betroffen sind.

📌 Was ist MASNS?

MASNS ist eine äußerst seltene genetische Erkrankung, die die Gehirnentwicklung beeinträchtigt. Erstmals beschrieben wurde sie 2021. Typische Merkmale sind eine globale Entwicklungsverzögerung, insbesondere eine verzögerte Sprachentwicklung, sowie Verhaltensauffälligkeiten wie Autismus-Spektrum-Störungen (ASS) und ADHS.

„Die erste Familienkonferenz markiert einen Meilenstein für die Marbach-Schaaf-Gemeinschaft. Was in dieser Woche in Heidelberg begann, legt den Grundstein für ein weltweites Netzwerk aus Familien, Forschenden und Unterstützenden, welches die Zukunft dieser seltenen Erkrankung mitgestalten wird. Familien aus aller Welt sind nach Heidelberg gereist, um sich kennenzulernen, voneinander zu lernen und die Forschung zu unterstützen. Diese Begegnungen schaffen Verbindungen, die oft ein Leben lang halten“, so Prof. Dr. Christian Schaaf, Direktor des Instituts für Humangenetik am UKHD.

Die Arbeitsgruppe von Prof. Dr. Schaaf betreibt translationale Forschung zu den genetischen Ursachen neuroentwicklungsbedingter Erkrankungen. Gemeinsam mit Dr. Felix Marbach (Universitätsklinikum Bonn) veröffentlichte er 2021 die erste wissenschaftliche Beschreibung des Marbach-Schaaf-Syndroms. Zudem führt sein Team ein weltweites Register aller bekannten MASNS-Fälle, zur wissenschaftlichen Auswertung und zur Vernetzung von Betroffenen und Fachleuten.

🙏 Ein herzliches Dankeschön an alle Eltern und Familien, die den Weg nach Heidelberg auf sich genommen haben, um dabei zu sein!

ℹ️ Mehr Infos zu MASNS, aktueller Forschung und Diagnostik: https://masnsfoundation.org/

07/24/2026

There are moments that remind you why this work matters. 💙

Today concluded the inaugural International MASNS Scientific, Medical & Family Conference in Heidelberg, Germany.

The scientific sessions focused on identifying genetic and behavioral markers of MASNS, with the goal of earlier diagnosis and intervention for individuals with the syndrome. Every step toward earlier recognition has the potential to make a meaningful difference for families.

The conference concluded with family testimonials, where parents courageously shared their journeys with MASNS. Their stories were heartfelt, emotional, and a powerful reminder of the real lives behind every research question and every scientific breakthrough.

As the conference came to a close, it was difficult to say goodbye. Over the past two days, families, clinicians, and researchers from around the world came together with a shared purpose, and while everyone is returning home, the connections made here will continue. We look forward to staying in touch and seeing everyone again at the next MASNS gathering. 💙

07/23/2026

Day 1 is in the books. 💙

Today we had the privilege of attending the first day of the inaugural International MASNS Scientific, Medical & Family Conference in Heidelberg, Germany.

Researchers, clinicians, and families from around the world came together to share knowledge, discuss the latest research, and strengthen the partnerships that will move MASNS research and care forward.

We ended the day connecting with families and researchers over dinner, building relationships that will continue long after this conference ends.

Thank you to the organizers, researchers, clinicians, and families who made today so meaningful. 💙

07/19/2026

🌍 The journey has begun.

Right now, families, clinicians, researchers, and advocates from 11 countries are traveling to Heidelberg, Germany for the 2026 MASNS Conference.

Over the next week, our global MASNS community will come together to share knowledge, build meaningful connections, and collaborate on advancing research for Marbach-Schaaf Neurodevelopmental Syndrome.

No matter how many miles separate us, we’re all traveling toward the same goal: a brighter future for individuals with MASNS. 💜

Follow along this week as we share highlights from the conference!

Safe travels to everyone making the journey. We’ll see you in Heidelberg! 🇩🇪✈️💜

06/16/2026

✨ The countdown is on! ✨

In just a few weeks, families, researchers, and clinicians from around the world will gather at Heidelberg University for the first international MASNS
Scientific, Medical, & Family Conference.

For many of us, this will be the first time meeting other families who truly understand the journey of Marbach-Schaaf Neurodevelopmental Syndrome (MASNS). It will be a time to connect, learn, share experiences, and build lasting friendships.

The conference will also bring together experts dedicated to advancing research and improving outcomes for individuals with MASNS. Every conversation, every collaboration, and every new discovery brings us one step closer to a brighter future for our loved ones.

We are incredibly grateful to our community of families, supporters, donors, and advocates who have helped make opportunities like this possible. 💙💚💛❤️

As we prepare to travel to Germany, we’ll be sharing updates along the way. Please keep our MASNS families in your thoughts as we embark on this meaningful journey together.

Together, we are building hope, community, and a future filled with possibility.

04/01/2026

April is Autism Acceptance Month. As the MASNS Foundation, this month holds special meaning for us.

We often get asked: what is MASNS, and how does it relate to autism? Here’s what we want everyone to know:

Autism is not one condition with one cause. More than 800 genes and dozens of genetic syndromes have been linked to autism spectrum disorder, and approximately 1 in 5 children with an ASD diagnosis has an identifiable genetic syndrome behind it.

Marbach-Schaaf Neurodevelopmental Syndrome is one of those conditions. For many of our individuals, MASNS doesn’t exist alongside an autism diagnosis, it IS the reason for it.

Our families navigate the same therapies, the same school systems, the same joys and the same challenges that so many autism families know well. We are part of this community, and this month, we stand proudly alongside it.

To every autistic individual: you are valued, you are celebrated, and you belong. To every family in the trenches, whether your child has an autism diagnosis, a rare genetic condition, or both, we see you. We know the weight of it, and we know the beauty of it too. You are not alone.

This month, as awareness and acceptance take center stage, we’re also shining a light on the fact that behind the broader autism umbrella are countless rare genetic conditions, each with their own families fighting for answers, research, and support. The MASNS Foundation exists to push that research forward. So that one day, families get answers faster, and every child gets the support they deserve from day one.

Happy Autism Acceptance Month. 💙🌈

03/24/2026

MASNS is diagnosed through genetic testing that identifies changes in the PRKAR1B gene.

As genetic testing becomes more widely available, more individuals with MASNS may be identified and correctly diagnosed.

Earlier diagnosis can help families access appropriate care, resources, and research opportunities.

03/19/2026

Our second MASNS family Zoom is happening this Saturday! 🧠🌈

If you’re a family touched by a MASNS diagnosis and want to connect with others who get it, this one’s for you. 💛

These calls are a safe, supportive space to share experiences, ask questions, and remind each other that you’re not alone on this journey.

Interested in joining? Send us a DM and we’ll get you the details! 📩