Love, loss, and the road ahead
Amanda Johnson Amanda Johnson

Love, loss, and the road ahead

After Frank and Mikaila Schmidt’s son Hudson passed away, they looked for ways to carry his memory forward and support other families facing the same rare diagnosis. Out of that desire to make a difference, Hudson’s Handlebar Heroes was born—a 200-mile cycling fundraiser. With support from friends, family, and their wider community, the Schmidts raised more than $19,000 for ASXL-related disorder research.

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ARRE Foundation expands scientific leadership with new MSAB members
Amanda Johnson Amanda Johnson

ARRE Foundation expands scientific leadership with new MSAB members

Dr. Rob Illingworth and Dr. Valerie Arboleda join the ARRE Foundation’s Medical and Scientific Advisory board. Their expertise brings strength to our translational science efforts to help bridge foundational scientific discovery with future therapeutic possibilities.

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Join the movement: Genetic Testing Action Day—July 25, 2025
Amanda Johnson Amanda Johnson

Join the movement: Genetic Testing Action Day—July 25, 2025

Many developmental delays, medical complexities, and neurological differences have a genetic cause. Yet too often, families are unaware that genetic testing is available—or don’t know how to access it. Genetic Testing Action Day on July 25 encourages families to talk with their child’s doctor about genetic testing.

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What is the ASXL Census—and how can it help us get closer to treatments?
Amanda Johnson Amanda Johnson

What is the ASXL Census—and how can it help us get closer to treatments?

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.

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Travel tips and tricks by ASXL families
Sarah Scott Sarah Scott

Travel tips and tricks by ASXL families

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.

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Partnering for progress at the Gatlinburg Conference
Amanda Johnson Amanda Johnson

Partnering for progress at the Gatlinburg Conference

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.

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ASXL research and healthcare infrastructure: Context for understanding significant changes to U.S. federal policies
Amanda Johnson Amanda Johnson

ASXL research and healthcare infrastructure: Context for understanding significant changes to U.S. federal policies

Significant and abrupt changes to the research and healthcare infrastructure in the United States by the Trump administration over the last month have caused concern for many advocates in the rare disease community. The ARRE Foundation seeks to help educate our community about the ASXL research and healthcare infrastructure as context for understanding how these changes could impact medical care and research for ASXL-related disorders now and in the future.

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Cory Rillahan, MD, PhD joins Medical and Scientific Advisory Board
Amanda Johnson Amanda Johnson

Cory Rillahan, MD, PhD joins Medical and Scientific Advisory Board

The ARRE Foundation welcomes Dr. Cory Rillahan, a pediatric oncologist at Dana Farber Cancer Institute and Boston Children’s Hospital, to its Medical and Scientific Advisory Board. As both a physician-scientist specializing in pediatric leukemias and a parent of a child with Bainbridge-Ropers Syndrome, Dr. Rillahan brings invaluable expertise and passion to our mission of advancing research and support for ASXL-related disorders.

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Samantha Regan, PhD presented with a $20,000 research grant from Uplifting Athletes and the ARRE Foundation
Amanda Johnson Amanda Johnson

Samantha Regan, PhD presented with a $20,000 research grant from Uplifting Athletes and the ARRE Foundation

Dr. Samantha Regan of the University of Michigan has been awarded a $20,000 research grant as part of Uplifting Athletes’ 2025 Young Investigator Draft Class, co-funded by the ARRE Foundation. Her work on the ASXL3 gene aims to advance the understanding of Bainbridge-Ropers Syndrome, bringing the community closer to pre-clinical tools and potential therapeutic targets.

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ARRE Foundation announces $545,000 investment in research for ASXL-related disorders
Amanda Johnson Amanda Johnson

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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ARRE Foundation celebrates milestone publication for Shashi-Pena Syndrome (ASXL2)
Amanda Johnson Amanda Johnson

ARRE Foundation celebrates milestone publication for Shashi-Pena Syndrome (ASXL2)

We are excited to announce a new publication on Shashi-Pena Syndrome, a collaborative effort between the ARRE Foundation, the family community, and medical experts. This paper, published as a new chapter in GeneReviews, is the first comprehensive update on Shashi-Pena Syndrome since 2016. It expands the medical understanding of the syndrome’s key features, analyzing data from 23 individuals.

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