The ARRE Foundation serves fewer than 1,000 diagnosed individuals worldwide.

Yet over four days this June, it brought together researchers, clinicians, industry partners and families from around the world, completing more than 150 research appointments and collecting biospecimens that researchers estimate would otherwise have taken years to obtain.

For ultra-rare diseases, that’s more than a successful conference. It’s an example of what happens when patient engagement becomes research infrastructure.

The ASXL Rare Research Endowment (ARRE) Foundation supports individuals and families affected by ASXL-related disorders—a group of ultra-rare neurodevelopmental conditions that includes Bohring-Opitz Syndrome (ASXL1), Shashi-Pena Syndrome (ASXL2), and Bainbridge-Ropers Syndrome (ASXL3). While fewer than 1,000 individuals have been diagnosed worldwide, many more are believed to be living without a diagnosis.

Over the past year, the ARRE Foundation has committed more than $435,000 to research while continuing to invest in the infrastructure needed to prepare the community for future treatments. This has included expanding the ASXL-Related Disorders Natural History Study and Biobank, growing the ASXL Behavioral Phenotyping Study (ALPS), launching the ASXL Census, securing major external funding awards, strengthening its Medical and Scientific Advisory Board, and building the research infrastructure needed to support future clinical trials. These initiatives represent a deliberate shift from supporting research to actively enabling it.

The culmination of those efforts was on display at the 2026 ASXL Research Symposium and Family Conference.

Held in Ann Arbor, Michigan, the conference attracted substantially more families, clinicians, researchers, industry partners, and advocates than previous years—a reflection of the ARRE Foundation’s sustained investment in community engagement, scientific collaboration, and research participation.

More importantly, the conference delivered measurable research outcomes.

During the four-day event:

• More than 150 research appointments were completed. 
• Fifty-nine blood samples were collected. 
• Fifty-three fibroblast samples were collected. 

Research participation became so popular that appointment availability had to be closed before the conference even began.

One researcher estimated that the number of biospecimens collected during the conference represented two to three years’ worth of collection through routine clinic visits.

The success of the conference was not simply the result of bringing researchers and families together in the same place. It reflected years of collaboration between the ARRE Foundation and its scientific partners to design research that is both scientifically rigorous and shaped by the priorities of the community it serves. From natural history studies to biospecimen collection and behavioural research, families are not passive participants—they are active partners in helping define the future direction of ASXL-related disorders research.

For Amanda Johnson, Executive Director of the ARRE Foundation, these outcomes reflect a deliberate strategy that has guided the Foundation.

“We’ve invested heavily in building trust with our community. We’ve worked hard to communicate not only what we’re doing, but why we’re doing it—from funding research and launching new studies to expanding family support and preparing for future treatments.

When families are invited to help shape research—not simply participate in it—the quality of the science improves, researchers gain deeper insight into the condition, and families become true partners in moving the field forward. That’s the model we’ve been working to build.”

To learn more about the ASXL Rare Research Endowment (ARRE) Foundation, its research initiatives, family programs, and commitment to preparing for future treatments for ASXL-related disorders, visit www.arrefoundation.org.

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About the ASXL Rare Research Endowment (ARRE) Foundation

The ASXL Rare Research Endowment (ARRE) Foundation is a nonprofit organization dedicated to accelerating research and improving the lives of individuals and families affected by ASXL-related disorders, including Bohring-Opitz Syndrome (ASXL1), Shashi-Pena Syndrome (ASXL2), and Bainbridge-Ropers Syndrome (ASXL3).

Founded by families, the ARRE Foundation works alongside researchers, clinicians, industry partners, and the global rare disease community to advance scientific understanding of the ASXL genes and prepare for future treatments. 

For more information, visit www.arrefoundation.org.

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For further information, or media enquiries, please contact:

Jessica McAndrew
Bubbly Consulting (on behalf of the ASXL Rare Research Endowment Foundation)
jessica@areyoububbly.com

For interview requests, please contact:

Amanda Johnson
Executive Director
ASXL Rare Research Endowment (ARRE) Foundation
amanda@arrefoundation.org

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