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.

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.

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.

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.

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.

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.

Two recent case reports document the successful use of pregabalin (Lyrica) to treat challenges related to Bainbridge-Ropers Syndrome (ASXL3-related disorder), including extreme behaviors and suspected pain episodes.

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.

The ARRE Foundation is making significant progress on our PCORI-funded project to develop and prioritize research questions shaped by the voices of families living with ASXL-related disorders.

The ARRE Foundation announces the appointment of Sarah Scott as the new Family Education and Engagement Coordinator. Sarah brings a wealth of experience with her background in social work and her deep personal connection to the ASXL community.

Bainbridge-Ropers Syndrome (ASXL3) has been added to the U.S. Social Security Administration's Compassionate Allowances program, speeding the path to approval for disability claims for individuals with Bainbridge-Ropers Syndrome.

The ARRE Foundation’s Medical and Scientific Advisory Board releases update tumor screening guidelines for children with Bohring-Opitz Syndrome.

The Patient-Centered Outcomes Research Institute (PCORI) has selected the ARRE Foundation for a $99,982 Eugene Washington PCORI Engagement Stakeholder Convening Award for a project titled, “Defining and Prioritizing Research Questions and Outcome Measures for ASXL-Related Disorders.” The project will engage caregivers, clinicians, and researchers in further defining the lived experience of families in the domains of neurodevelopment (cognition and communication), behavioral dysregulation, and gastrointestinal-related concerns.

If signed the $1.7 trillion spending package is signed into law, ASXL-related disorders and Angelman syndrome will be recognized by Congress and President Biden.

The 2022 ASXL Research Symposium and Conference isn't just a chance to get together: it's a slingshot forward for the ASXL syndrome community as we seek to learn more about the ASXL genes and how to provide the best care for our children.