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.

 
 

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.

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.

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.

Make your donation to support research and education today.

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

Register today for the October Newly Diagnosed Welcome Call on Friday, October 18 from 12-1pm U.S. Eastern Time. Join this informal, virtual conversation for parents and caregivers with a loved one who has been recently diagnosed with an ASXL-related
Register today for the October Newly Diagnosed Welcome Call on Friday, October 18 from 12-1pm U.S. Eastern Time. Join this informal, virtual conversation for parents and caregivers with a loved one who has been recently diagnosed with an ASXL-related
Find it in the ASXL Resource Library: Parents of children with ASXL-related disorders share their experiences with different approaches to communication including sign language, augmentative and alternative communication (AAC) devices, yes/no buttons
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. Brooklyn is one of 300 people estimated in the w
Even common, typically mild respiratory viruses can cause serious respiratory symptoms and complications in young children with ASXL-related disorders. On Wednesday, October 23 from 12-1pm U.S. Eastern Time, join pediatric pulmonologist Joshua Needle
Join the October Family Forum on Wednesday, October 30 from 12-1pm U.S. Eastern Time the topic of “Exploring medical specialties that may help your child,” facilitated by parents Lauren O’Neil (ASXL1/Bohring-Opitz Syndrome) and Mati
See your loved one on the pages of the 2025 ARRE Foundation calendar! Submit your photos by Thursday, October 31. Each year we publish a custom calendar filled with pictures of families living with Bohring-Opitz, Shashi-Pena, and Bainbridge-Ropers
Did you know you can donate to us on Venmo? Find us in the app @arrefoundation and tap to give!
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.

Learn more
 
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.

Learn more

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.