Supporting research and improving care for 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 disorders related to the ASXL genes.

 
 

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2025 ARRE Foundation calendar

Get your 2025 ARRE Foundation calendar as a thank you gift for your donation of $25 or more before December 31.

Newly diagnosed

Has someone you love just been diagnosed with an ASXL-related disorder?

A young girl with Bainbridge-Ropers Syndrome being held by a parent on a woodsy trail

ASXL syndromes

Upcoming events

We host virtual and in-person educational and networking events for ASXL families throughout the year. Recordings of past programs are available in the ASXL Resource Library.

Our flagship in-person events include the ASXL Research Symposium and Family Conference. The ASXL Research Symposium is held annually and the ASXL Family Conference is held every other year.

Latest news
ARRE Foundation announces $545,000 investment in research for ASXL-related disorders
ARRE Foundation announces $545,000 investment in research for ASXL-related disorders

The ARRE Foundation is excited to announce a $545,000 research investment in 2025, bringing our total commitment to ASXL-related disorders to $1.3 million since 2018. This funding will support clinical studies, expand the ASXL Natural History Study and Biobank, and advance research into potential treatments, including a drug screening program using FDA-approved drugs. Together with the ASXL family community and dedicated researchers, we’re driving progress toward better care and therapies for Bohring-Opitz, Shashi-Pena, and Bainbridge-Ropers syndromes.

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Case reports document successful use of pregabalin (Lyrica) to treat challenges related to Bainbridge-Ropers Syndrome
Case reports document successful use of pregabalin (Lyrica) to treat challenges related to Bainbridge-Ropers Syndrome

Two recent case reports document the successful use of pregabalin (Lyrica) to treat challenges related to Bainbridge-Ropers Syndrome (ASXL3-related disorder), including extreme behaviors and suspected pain episodes.

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ARRE Foundation announces appointment of Sarah Scott to staff team
ARRE Foundation announces appointment of Sarah Scott to staff team

The ARRE Foundation announces the appointment of Sarah Scott as the new Family Education and Engagement Coordinator. Sarah brings a wealth of experience with her background in social work and her deep personal connection to the ASXL community.

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Thank you for a great conference!

2024 ASXL Research Symposium and Family Conference

45 families living with ASXL-related disorders and 54 doctors and researchers came together at the 2024 ASXL Research Symposium and Family Conference at Kennedy Krieger Institute in Baltimore, Maryland from July 18-21, 2024. Together, the ASXL community shared research and experiences, and participated in over 120 research visits and 15 focus groups to help us learn more about ASXL-related disorders. Hope for the future with this rare disorders is bright through connection, collaboration, and research!

Recordings from the education sessions for families are now available on-demand in the ASXL Resource Library.

Cover of the ARRE Foundation 2023 Annual Report

2023 Annual Report

Our annual report to the ASXL community

 Give the gift of a brighter future.

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Updated tumor screening guidelines

In May 2024, the ARRE Foundation’s Medical and Scientific Advisory Board released update tumor screening guidelines for children with Bohring-Opitz Syndrome (ASXL1-related disorder).

We’re growing the number of doctors and researchers who study ASXL-related disorders

When the ARRE Foundation was founded in 2018, there were 10 known doctors and researchers with an interest in ASXL-related disorders. We have grown the network to 73 researchers and counting through personal outreach, our quarterly research discussions, and annual ASXL Research Symposium.

ASXL Research Network

Cumulative growth of membership in the ASXL Research Network

Article

What causes ASXL-related disorders?

Find care

Use the ASXL Care Directory to find doctors, therapists, and other medical professionals recommended by families of individuals living with ASXL-related disorders

ASXL Care Directory logo

 Keep up with us on Instagram

What if your loved one had a genetic disorder so rare that no one had ever heard of it before -- let alone knew how to treat it? For many families with ASXL-related disorders, this is their reality. Ayla May is one of 300 people estimated in the w
ASXL families from around the world are working on big goals for 2025! From improving head control to taking first steps, from trying new communication tools to making new friends, from taking family trips to riding an adaptive tricycle, kids and you
ASXL families from around the world are working on big goals for 2025! From improving head control to taking first steps, from trying new communication tools to making new friends, from taking family trips to riding an adaptive tricycle, kids and you
As a family-led organization, we get it: life can be beyond busy while caring for a family member with a complex rare disorder. We are so grateful to you for making time to participate in critically important research activities to help us learn more
ASXL families from around the world are working on big goals for 2025! From improving head control to taking first steps, from trying new communication tools to making new friends, from taking family trips to riding an adaptive tricycle, kids and you
Find this in the ASXL Resource Library: Rujuta Wilson, MD, a behavioral neurologist at UCLA, describes the science between the brain/body connection, how movement and mobility impacts other body systems, and how families can help maximize their child
Parents of children with ASXL syndromes and a young person with an ASXL syndrome stand together looking at the camera. They are all wearing conference name badges.

For patients and families

We are family-led and family-centered. 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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A young boy sits in a medical stroller with a tablet and headphones. He is in front of a research sample collection station.

For researchers and medical professionals

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.

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Invest in stronger futures

Your recurring donation by credit card provides a steady stream of support for our programs and research. Set up your automated donation today and join our dedicated group of donors in the Sustainers Circle.