News & Blog

The ASXL Rare Research Endowment (ARRE) Foundation has reaffirmed its commitment to clinical research infrastructure for ASXL-related disorders through continued funding of the ASXL-Related Disorders Natural History Study and Biobank at the University of California, Los Angeles (UCLA), led by Bianca Russell, MD. The Foundation is currently in the second year of a three-year, $180,000 funding commitment supporting the study, which serves as the primary clinical research resource for Bohring-Opitz Syndrome (ASXL1), Shashi-Pena Syndrome (ASXL2), and Bainbridge-Ropers Syndrome (ASXL3). The study combines two components: a longitudinal natural history study that … Continued

The Compassionate Allowances program helps the SSA quickly identify disability claims involving conditions that clearly meet its standards for disability. For individuals with conditions on the list, claims can often be approved based on medical confirmation of the diagnosis, reducing the burden of proof and the time required to reach a decision. Once an individual has disability status, they may be eligible for disability benefits, including Supplemental Security Income (SSI). Families applying for disability benefits for a loved one with Bohring-Opitz Syndrome should clearly state in their application that the … Continued

The GeneReviews article for ASXL1-related Bohring-Opitz Syndrome was republished in June 2026, bringing together the latest clinical knowledge, research, and care recommendations into a single, authoritative, trusted, and expert-vetted resource. For rare disorders like Bohring-Opitz Syndrome, where relatively few individuals have been diagnosed worldwide, resources like GeneReviews play a vital role. They are widely used by geneticists, pediatricians, neurologists, therapists, and other healthcare professionals to guide diagnosis, clinical management, and long-term care. Families also rely on them to better understand the condition and to advocate for appropriate medical care. The … Continued

The ARRE Foundation serves fewer than 1,000 diagnosed individuals worldwide. Yet over four days this June, it brought together researchers, clinicians, industry partners and families from around the world, completing more than 150 research appointments and collecting biospecimens that researchers estimate would otherwise have taken years to obtain. For ultra-rare diseases, that’s more than a successful conference. It’s an example of what happens when patient engagement becomes research infrastructure. The ASXL Rare Research Endowment (ARRE) Foundation supports individuals and families affected by ASXL-related disorders—a group of ultra-rare neurodevelopmental conditions that … Continued

The project will investigate how changes in the ASXL3 gene alter neuronal cell function in Bainbridge-Ropers Syndrome (ASXL3), with the goal of building foundational knowledge that could support future therapeutic discovery. The grant reflects the ARRE Foundation’s continued investment in early-stage, mechanism-focused research at a time when many areas of rare disease science are facing increased funding pressures and reduced federal support opportunities. Dr. Bielas’ research will utilize patient-donated cell lines as well as ASXL3 cellular models generated by her lab to develop a “ubiquitination signature” for interpreting ASXL3 variants. … Continued

The ASXL Rare Research Endowment (ARRE) Foundation has announced a new round of research funding, committing a total of $435,000 in 2026 to a coordinated portfolio of studies focused on understanding ASXL-related disorders and advancing the path toward future treatments. This includes a new $75,000 award to Kennedy Krieger Institute to support the on-going ASXL Behavioral Phenotyping Study (ALPS), led by Dr. Natasha Ludwig, alongside a further $60,000 as part of an ongoing multi-year commitment to its parent study, the ASXL-Related Disorders Natural History Study led by Dr. Bianca Russell … Continued

From March 2-5, 2026, Dr. Karen Ho, Chief Scientific Officer at the ASXL Rare Research Endowment (ARRE) Foundation, attended an international scientific meeting focused on epigenetics and gene regulation. This Keystone Meeting, organized by Karim-Jean Armache (NYU) and Cigall Kadoch (Harvard) was entitled, “Epigenetics and Gene Regulation in Health and Disease: Linking Basic Mechanisms with Therapeutic Opportunities,” held in Geneva, Switzerland. The highly focused meeting centered on the latest, cutting-edge research in epigenetics, which is the research that will help us understand how genes like ASXL1, ASXL2, and ASXL3 function, … Continued

Families caring for individuals with ASXL-related disorders often become very familiar with the process of managing complex medical needs. One area that can sometimes be unexpectedly challenging is medication. With limited condition-specific medical guidance available for ASXL-related disorders, managing medication involves a degree of guesswork particularly because many individuals are nonverbal or have limited communication abilities. This makes it difficult to understand what they may be feeling or experiencing as a side effect. Compounding this medication management challenge are reports from the ASXL family and medical community that some medications … Continued

Across the ASXL community, families are already making an extraordinary contribution to research, and we want to tell you how much that means to us. Families are participating in the ASXL-Related Disorders Natural History Study and Biobank, contributing to the ASXL Census, and taking part in studies like the ASXL Behavioral Phenotyping Study (ALPS). These efforts require time, energy, and trust, and they are not taken for granted. This collective participation is what makes progress possible. It is the starting point for discovery. What participation makes possible When families take … Continued