News and updates from the ARRE Foundation

ARRE Foundation Founder and Chair, Laura Badmaev, and her son Alex—who has Bohring-Opitz Syndrome (ASXL1)—will travel to Washington, D.C. this June to represent the ASXL community at Family Advocacy Day.

We’re launching something simple but powerful: the ASXL Census. If you’ve never heard the word “census” outside of a government survey, you’re not alone. But in rare disease communities like ours, a census can be one of the most important tools we have to drive change. Learn more about what the ASXL Census is, what it isn’t, and how it can drive research forward.

For individuals with ASXL-related disorders, identifying reliable biomarkers is key to preparing for future clinical trials. But what is a biomarker? We answer this question in our latest blog post and share two exciting studies that are helping move research forward.

The New York Times recently reported a historic medical breakthrough: baby KJ became the first person in the world to receive a custom gene-editing treatment. This article breaks down what this means (and doesn’t mean yet) for the ASXL community.

Chief Scientific Officer Karen S. Ho, PhD visited Valerie Arboleda, MD, PhD’s lab and the REACH Biobank at the University of California, Los Angeles (UCLA) last week, marking another important step in deepening our scientific partnerships and advancing research for individuals with ASXL-related disorders.

Traveling with a medically complex loved one can be stressful, with so much to plan and pack. To help, we've created a resource filled with real tips and advice from families who’ve done it—covering everything from packing checklists and medication strategies to navigating airports and finding accessible lodging. It also reminds families to go slow, build in extra time, and expect the unexpected. Whether it’s your first trip or your fifth, this guide is here to ease the worry so you can focus more on making meaningful memories.

Earlier this month, the ASXL Rare Research Endowment (ARRE) Foundation was honored to participate in the 2025 Gatlinburg Conference on Research and Theory in Intellectual and Developmental Disabilities in a symposium titled Multi-Method, Multi-Stakeholder Approaches to Advancing Research and Clinical Trial Readiness in Rare Neurogenetic Conditions.

The ARRE Foundation is proud to announce Karen S. Ho, PhD, MSc, as Chief Scientific Officer. This milestone reflects the ARRE Foundation’s continued growth and our commitment to driving meaningful scientific progress for ASXL-related disorders.