We envision a world where all individuals with an ASXL syndrome have access to evidence-based treatments and engaged healthcare professionals who have knowledge and experience treating ASXL syndromes.

ASXL Rare Research Endowment Foundation

Supporting research. Improving care.

A mother and toddler smile at each other as she holds him up over her head while she lays back in a chair

Our mission

We support research and education that lead to improved quality of life for individuals with ASXL syndromes.

We're a family-led organization supporting research to increase the understanding of the ASXL gene family and improve care for those living with Bohring-Opitz, Shashi-Pena, and Bainbridge-Ropers Syndromes.

For families

We help families understand best practices for care management through resources and educational programs. We know the family voice is critical in defining the research priorities that will have the biggest impact on the ASXL community.

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For medical professionals and researchers

We help researchers and medical professionals connect with each other to exchange ideas and information. We help them get the research samples and data they need to study ASXL syndromes and understand the impact of their work on families.

Strategic priorities

In July 2021, the ARRE Foundation’s Board of Directors approved a strategic plan for 2021-2023. This plan encompasses work grouped in four key areas to advance our mission of supporting research and education that will lead to improved quality of life for those living with ASXL syndromes:

  • Invest in and drive ASXL research

  • Improve the clinical care and management of those with ASXL syndromes

  • Educate, empower and connect the ASXL community of patients, families, medical professionals and researchers

  • Strengthen the organization’s governance structure

Our forward progress toward these ambitious goals is only possible with the support of the ASXL community. Please consider joining us as a volunteer or supporting our work financially by fundraising or making a contribution.

Our values

Integrity

We conduct operations in a manner that is honest, transparent, and ethical. We demonstrate good stewardship of the resources entrusted to us.

Respect

We value and listen to all individuals and appreciate their diverse backgrounds, experiences, styles, approaches, and ideas.

Community

We collaborate with ASXL families, friends, advisers, doctors, scientists, and other partner organizations to build relationships and maximize our accomplishments.

Follow our journey.