Hope, backed by research

Hope is where we begin — but it’s research that moves us forward.

We believe in the power of hope. But we also believe that lasting change for individuals with ASXL-related disorders will come through committed, evidence-based research.

We’re not just hopeful. We’re taking action.

The ARRE Foundation is leading the charge on ASXL research

We are the only research foundation dedicated to ASXL-related disorders, including Bohring-Opitz Syndrome (ASXL1), Shashi-Pena Syndrome (ASXL2), and Bainbridge-Ropers Syndrome (ASXL3). Since 2018, we’ve been building the infrastructure to make progress possible—and our impact is already visible:

  • We helped bring GeneReviews articles for all three syndromes to publication—credible, trusted resources now available to clinicians and families worldwide.

  • We funded the analysis that led to the first ASXL symptom charts, helping families better understand their child’s diagnosis and clinicians better track care.

  • We co-developed and promoted updated tumor surveillance guidelines for Bohring-Opitz Syndrome, filling a major gap in care recommendations.

  • And most recently, we appointed Chief Scientific Officer, Dr. Karen Ho, to expand research capacity and lead new treatment pathways.

We are laying the groundwork for future clinical trials, and we’re doing it in close partnership with families and researchers alike. You can help us by completing the new ASXL Census that we recently launched.

Why research matters

Families often tell us they feel alone, overwhelmed, or unsure of what the future holds. Research provides more than answers—it provides direction. It tells us what symptoms to monitor, how a diagnosis may progress, and what kinds of treatments might one day be possible.

Research also connects the dots: between families across the globe, between doctors and data, between questions and hope.

But research only works when families are part of it.

How you can be part of the progress

We know your time and energy are limited—and we never take that for granted. That’s why we make it easy to participate in ways that feel meaningful and manageable:

  • Take the ASXL Census – this is the fastest way you can contribute to research. Take our Census and be counted.

  • Join a research study – Help advance care and drive discovery by enrolling in a research study.

  • Sign up for updates – Learn how the ARRE Foundation is driving progress, what we’re funding, and where your voice is needed.

  • Make a donation – Every dollar fuels more research, more data, and more possibilities for our community.

“The ARRE Foundation has been so helpful in this rare disease journey. They have provided me with support and a community. They also spearhead research that gives families like ours hope for the future.”

— ASXL parent

A father holds his daughter over his shoulder. He is facing away and she snuggles into his shoulder facing the viewer.

Research gives us hope we can act on

We are proud to work alongside clinicians, scientists, and families to build a future where ASXL-related disorders are better understood—and one day, better treated. That future starts with connection. It starts with participation. It starts with you.

Join us. Hope is where we begin—but research is how we move forward.