ARRE Foundation

Research Roadmap

Our Research Roadmap is our research strategic plan to lead us toward life-improving treatments as quickly and efficiently as possible.

Our research strategy

The ARRE Foundation is driving progress on two parallel paths – because treatments take time but families need support now. Our strategy tackles both at once:

  • Catalyzing and driving research: We’re building the scientific foundation for future therapies through research, data collection, and partnerships with scientists and industry leaders.
  • Supporting and engaging families: We’re improving quality of life now by expanding clinical care resources, connecting families with knowledgeable providers, and addressing the most urgent needs.

Both paths work together to accelerate progress, ensuring that families benefit from near-term improvements in care while laying the groundwork for long-term therapeutic breakthroughs.

Turning strategy into action

Every project we launch is part of a bigger picture — building the evidence, partnerships, and tools needed to improve care and drive research forward. Here are some of the key milestones we’ve achieved:

ASXL Census: Counting every voice

Launched in 2025, the ASXL Census aims to count every person with an ASXL-related disorder. This is more than just a headcount — it’s about showing the strength and reach of our community to encourage pharmaceutical investment and fuel progress.

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Family Priority Survey: Putting families first

In 2022, we asked families to tell us which symptoms matter most. The results are helping researchers and funders focus on what truly affects daily life — making sure research reflects real needs.

Growing the ASXL Research Network

Since 2018, we’ve expanded our research network from just 10 people to over 80 scientists and clinicians around the world. We’re building the team needed to solve the biggest challenges in ASXL-related disorders.

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ASXL Care Directory: Helping families find care

Launched in 2023, this resource helps families connect with doctors who understand ASXL conditions. It’s also part of a larger goal — concentrating care among experienced providers to build expertise and lay the groundwork for future clinical guidelines.

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Documenting what we know and don’t know

In 2023, we commissioned an assessment of where ASXL research stands and where it needs to go. We developed tools like charts of published symptoms and clinical features to help families understand the medical landscape and to give researchers a clear view of the data, resources, and knowledge already available — and what’s still missing. These resources are helping focus efforts and fuel smarter, faster research.

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Research we fund

We have committed $1.3 million to directly funding research projects
that advance our understanding of ASXL-related disorders.

Building research capacity at the ASXL Research Symposium

The ARRE Foundation annually hosts the ASXL Research Symposium as an investment in sustaining the momentum and growth of the ASXL research community. Our investment includes the support of travel grants for young investigators as an investment in building the long-term pipeline of interest in studying the ASXL genes and their disorders.

Engaging families at the ASXL Family Conference

In addition to being an important occasion for families to meet and learn, the ASXL Family Conference is an invaluable opportunity to collect critical data from individuals with ASXL-related disorders that can only be done in person. The ARRE Foundation intentionally designs the program around research participation opportunities for ASXL families.

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