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.

 
 

July 18-21, 2024

2024 ASXL Research Symposium and Family Conference

Baltimore, Maryland, U.S.A.

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Fireside chat
Updates from the ARRE Foundation

Recorded November 17, 2023

ARRE Foundation founder, chair, and Bohring-Opitz Syndrome parent Laura Badmaev shares a fireside conversation with ARRE Foundation Executive Director Amanda Johnson. This video update for ASXL families includes discussion of family resources, the state of ASXL research including the drug development process, and how families can get involved in research.

ASXL syndromes

2022 Annual Report

Our annual report to the ASXL community

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?

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

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

Are you a Walmart shopper? You can now round up your Walmart orders to benefit the ARRE Foundation and ASXL research. From the Walmart app or your online Walmart account, go to Account, then Giving and Impact, and search for “ASXL.” Then,
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! Julie Lopez has served as a volunteer since 2018 and joined the board in 2021. She manages our research grant program and other research initiatives. Julie lives in Idaho with her daughter Isabelle who has Bohring-Opitz S
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
Find this in the ASXL Resource Library: Does your child have sensory processing challenges? In this recording from the 2022 ASXL Family Conference, occupational therapists Shelby Surfas, OTD, OTR/L, BCP and Winny Soenaryo, OTD, OTR/L from the USC Cen
Preliminary findings from the ASXL1/Bohring-Opitz Syndrome EEG biomarker study were presented by Dr. Bianca Russell and colleagues in a poster titled, “Deep neurologic phenotyping and biomarker development in Bohring-Opitz syndrome using EEGs,
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. Molly is one of 45 people estimated in the world
In case you missed it: We are excited to announce that we have been selected as a partner for a Rare Epilepsy Partnership Award by CURE Epilepsy. As a partner, we are now eligible to co-fund a grant focused on the ARRE Foundation’s research pri
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.

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Invest in stronger futures

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