ARRE Foundation

For professionals

The ASXL clinical and research community is highly collaborative and growing rapidly. The ARRE Foundation drives progress in ASXL-related disorder research by uniting families and researchers, funding key initiatives, and building the infrastructure and collaborations needed to accelerate discovery and clinical impact.

Clinical guidance

Managing the care of someone with an ASXL-related disorder can be challenging: The clinical features of ASXL-related disorders are highly variable and, aside from GeneReviews and the publications provided below, there is minimal published guidance for patient care. Additionally, the understanding of the clinical phenotype continues to expand as more patients are diagnosed. Clinicians are urged to use the following resources to guide patient care:

Guide for healthcare professionals

Research tools and resources

Access research infrastructure and resources available to support ASXL-related disorder research, including clinical data, biological samples through the ASXL biobank, Natural History Study research infrastructure, animal and cell models, assays and reagents, and connections to research collaborators.

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Research funding

We fund research that advances understanding of ASXL-related disorders and builds the scientific foundation needed for improved clinical care and future treatments. Explore current funding opportunities and learn more about the research priorities guiding our investment.

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Funded Research

2026

+$60,000

ASXL-Related Disorders Natural History Study and Biobank

The second annual installment within the three-year, $180,000 award.

Learn more about the ASXL-Related Disorders Natural History Study and Biobank.

+$75,000

ASXL Behavioral Phenotyping Study (ALPS)

Natasha Ludwig, PhD, Kennedy Krieger Institute and Johns Hopkins University

Continuation funding for the ongoing study.

Learn more about the ASXL Behavioral Phenotyping Study (ALPS).

+$120,000

ARRE–American Brain Foundation Next Generation Research Grant

Two-year partnership award focused on ASXL gene function and disease mechanisms.

+$60,000

Testing the genetic mechanisms of pathogenic ASXL3 variants

Stephanie Bielas, PhD, University of Michigan

One-year Discovery Grant focused on ASXL3 disease mechanisms and foundational knowledge for future therapeutic discovery.

+$60,000

The role of ASXL1 and ASXL2 gene variants in neuronal dysfunction

Valerie Arboleda, MD, PhD, UCLA

One-year Discovery Grant.

+$60,000

Investigating ASXL Function and Dysfunction in Brain Development

Robert Illingworth, PhD, University of Edinburgh

One-year Discovery Grant.

2025

+$60,000

ASXL-Related Disorders Natural History Study and Biobank

Bianca Russell, MD, UCLA

The first annual installment within the three-year, $180,000 award.

Learn more about the ASXL-Related Disorders Natural History Study and Biobank.

+$75,000

Collaborative multicenter clinical study (ALPS)

Natasha Ludwig, PhD, Kennedy Krieger Institute and Johns Hopkins University

Annual installment within a two-year, $150,000 clinical award. Later ARRE Foundation materials identify the ongoing study as the ASXL Behavioral Phenotyping Study (ALPS).

Learn more about the ASXL Behavioral Phenotyping Study (ALPS).

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Join the ASXL Professional Network

The ASXL Professional Network is an informal and constantly growing network of scientists and clinicians who have interest in studying aspects of the ASXL genes and their related disorders. Members of the network receive invitations to Research Roundtable discussions, funding announcements, and other updates relevant to the ASXL research and clinical community.

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The ASXL Research Symposium

The ASXL Research Symposium brings together basic, translational, and clinical researchers to share scientific progress, build collaborations, and advance our understanding of ASXL-related disorders.

Thank you to everyone who joined us for the 2026 ASXL Research Symposium in Ann Arbor. Stay tuned for details about the 2027 ASXL Research Symposium and opportunities to connect with the ASXL research community.

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Research Roadmap

Our Research Roadmap is our research strategic plan to accelerate progress in understanding and treating ASXL-related disorders.

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Latest news

Sep 24, 2026

What we've learned from families participating in ASXL research

Insights from data collected at the ASXL Family Conference The August 2026 study newsletter provides early insights into some of the research data collected at the 2026 ASXL Family Conference in June. Participating families completed questionnaires about communication, sleep, and feeding that are already helping researchers identify where future research could have the greatest impact. The following insights are drawn from participants with ASXL1, ASXL2, and ASXL3-related disorders. The number of participants from each group (ASXL1, ASXL2, or ASXL3) is indicated by the “N” value for each disorder below. Because … Continued

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Aug 27, 2026

ARRE Foundation continues investment in foundational clinical research for ASXL-related disorders

The ASXL Rare Research Endowment (ARRE) Foundation has reaffirmed its commitment to clinical research infrastructure for ASXL-related disorders through continued funding of the ASXL-Related Disorders Natural History Study and Biobank at the University of California, Los Angeles (UCLA), led by Bianca Russell, MD. The Foundation is currently in the second year of a three-year, $180,000 funding commitment supporting the study, which serves as the primary clinical research resource for Bohring-Opitz Syndrome (ASXL1), Shashi-Pena Syndrome (ASXL2), and Bainbridge-Ropers Syndrome (ASXL3). The study combines two components: a longitudinal natural history study that … Continued

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Aug 13, 2026

U.S. Social Security Adds Bohring-Opitz Syndrome to Fast-Track Disability Program

The Compassionate Allowances program helps the SSA quickly identify disability claims involving conditions that clearly meet its standards for disability. For individuals with conditions on the list, claims can often be approved based on medical confirmation of the diagnosis, reducing the burden of proof and the time required to reach a decision. Once an individual has disability status, they may be eligible for disability benefits, including Supplemental Security Income (SSI). Families applying for disability benefits for a loved one with Bohring-Opitz Syndrome should clearly state in their application that the … Continued

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