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.

 
 

December 3

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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.

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.

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

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. Mila is one of 45 people estimated in the world
Hosting a fundraiser for GivingTuesday is easy! We'll support you every step of the way with tips and training, pre-written text, links to images and videos, and custom graphics featuring your loved one. Join our fundraising team on this internationa
RECORDING AVAILABLE: ASXL parent leaders Laura Badmaev (ASXL1/Bohring-Opitz Syndrome), Amanda Scheirer (ASXL2/Shashi-Pena Syndrome), Gracileia Morrison (ASXL3/Bainbridge-Ropers Syndrome), and Sankar Madhavan (ASXL3/Bainbridge-Ropers Syndrome) share p
Do you have a CRID? A Clinical Research ID (CRID) is a unique identification number generated and known only to a research participant. This ID number allows researchers to merge data across research projects without any personally identifying inform
Meet our Board of Directors! Amanda Scheirer joined the Board of Directors in 2024. She lives in Florida with her son Connor Finn, who has Shashi-Pena Syndrome (ASXL2). The ARRE Foundation’s Board of Directors is responsible for guiding our str
We’re trying to get welcome letters to genetic testing companies to share with newly diagnosed families upon receiving their test results. What company, service, or program provided your family’s genetic testing? Comment below and help us
✨ Big news for Shashi-Pena Syndrome families! This newly published GeneReviews chapter is a major milestone for our community, thanks to the families who shared their experiences to make this possible. Your voices and contributions have helped create
Meet our Board of Directors! Lauren Adams joined the Board of Directors in 2024 and has worked with the ARRE Foundation as a volunteer since 2021 on research-related projects. Her daughter Adair has Bainbridge-Ropers Syndrome (ASXL3). Lauren and her
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.