What it takes to build a treatment for ASXL-related disorders
Bringing families and researchers together to make progress possible
ASXL-related disorders are nano-rare, which presents unique challenges in research. Limited patient numbers mean limited clinical data and biological samples, making infrastructure development critical.
For scientists to understand how ASXL1, ASXL2, and ASXL3 function – and what happens when those genes are altered – they need access to high-quality clinical data and biological samples. In more common conditions, this infrastructure already exists. In nano-rare diseases, it must be built from the ground up.
The bridge between community and science
At the ARRE Foundation, we work to bring the family community and the research community together. Families live with the daily realities of Bohring-Opitz Syndrome (ASXL1), Shashi-Pena Syndrome (ASXL2), and Bainbridge-Ropers Syndrome (ASXL3). Researchers bring the scientific tools needed to study these conditions at the molecular and cellular level. For treatments to become possible, those perspectives must inform one another.
The ASXL-Related Disorders Natural History Study and Biobank are key components of the research infrastructure we are building to support that collaboration. The Natural History Study helps researchers understand how ASXL-related disorders affect individuals across a lifespan; how symptoms present, how they change over time, and what symptoms present the greatest challenges. The Biobank provides blood and tissue samples that allow scientists to study the biological impact of ASXL variants and develop biological and cellular models that future therapies will rely on.
Researchers are currently using donated blood and skin samples to create human cell models derived directly from individuals with ASXL-related disorders. These models allow scientists to study how specific ASXL variants behave at the cellular level and to test potential therapeutic strategies. However, because ASXL-related disorders are so rare, researchers have a limited number of samples from which to work. Every donated blood or skin sample expands the resources available to researchers — and this is why participation matters so much.
As Dr. Karen Ho explains:
“Each donated sample allows researchers to model a real-world ASXL variant. The more variants represented, the more accurate and inclusive this research becomes, and the closer we get to safe, effective therapies that reflect the full diversity of our community.”
Researchers are especially in need of skin samples (fibroblasts), but every contribution – whether blood or skin — matters. Each sample strengthens the scientific foundation we are building together.
We know this is not an easy ask
Participating in research – especially when it involves a blood draw or skin biopsy – is not simple, and we certainly don’t need to tell you that. We respect that families are the experts when it comes to their children. You know what is right for your child and what level of participation is appropriate for your family; whether that means completing surveys from home, sharing medical records, contributing a blood sample, or donating skin tissue – every level of participation has impact.
There is no “right” amount. There is only what is right for you.
The next opportunity to contribute
One upcoming opportunity to participate in research will take place at the 2026 ASXL Research Symposium and Family Conference. During the conference, clinicians will be on site to collect blood and tissue samples from attendees who feel comfortable contributing to the ASXL-Related Disorders Natural History Study and Biobank.
If you are interested in participating in research at the conference, we encourage you to complete the online interest form as soon as possible. Coordinating research appointments across multiple studies during the conference is a complex process, and early expressions of interest allow the research teams to plan appropriately and support families effectively.
We understand that participation in research is a personal decision, and the conference may not be the right moment for every family. There will be many other opportunities to contribute in the future.
The 2026 ASXL Research Symposium and Family Conference is also about connection, bringing families together, sharing knowledge, and learning from one another. Research is one part of that experience. Community, support, and shared understanding are equally important.
We hope to see you there.