We’re still catching our breath after an inspiring and productive ASXL Research Symposium last week in Boston. This year’s meeting brought together 58 scientists and clinicians from around the world who are advancing understanding of ASXL-related disorders. Below are some highlights from the event so that you can be as excited as we are about what’s to come.

Scientific and clinical advancements in the ASXL field

Cutting edge science was presented by the invited speakers and poster presenters at the ASXL Research Symposium, with lively discussions and exchanges between all participants. Talks and posters presented on Sunday, October 19 included updates on the mechanism of how the ASXL proteins work in the developing nervous system as well as in cancer, how the ASXL proteins are regulated, and how drugs that impact the ASXL epigenetic system are being developed. Presentations on Monday, October 20 centered around clinical research projects for ASXL-related disorders, including an update on the Inchstone Project, as well as new approaches in development for the measurement and treatment of speech, motor, and behavior phenotypes.

Workshops that advance preclinical and clinical research

During the ASXL Research Symposium, two workshops were held: The Basic and Translational Science Workshop, led by our Chief Scientific Officer, Dr. Karen Ho and moderated Professor Robert Illingworth of the University of Edinburgh, and the Clinical Workshop, led by Dr. Natasha Ludwig (Kennedy Krieger Institute and Johns Hopkins School of Medicine) and Dr. Bianca Russell (UCLA) and moderated by Dr. Rujuta Wilson (UCLA). Both Workshops were designed to accelerate drug development and treatments for ASXL-related disorders. The Basic and Translational Workshop aimed to identify and highlight promising research ideas in preclinical research that will lead to effective treatment development, and the Clinical Workshop aimed to address the need for well-designed, validated clinical endpoints that will be used to measure changes in function due to investigational treatments in clinical trials.

Andrew Steinsapir (Deerfield and Apertura) kicked off the Basic Science and Translational Workshop by providing an overview of gene therapy development strategies, offering a clear framework for how academic researchers and foundations like the ARRE Foundation can work together to accelerate treatment development. These discussions helped bridge the gap between basic research and therapeutic application, which is a critical step toward making significant progress in developing drugs and treatments for the ASXL community.

The Clinical Workshop laid the groundwork for the development of new severity assessments for the ASXL-related disorders that could be used as outcome measurements for clinical trials or tools to guide clinical care.

Collaboration and participation

This year’s symposium saw record participation, with 58 registered attendees, 5 countries and 29 institutions represented, and a growing number of trainees and early-career investigators.

The atmosphere was deeply collaborative. Researchers shared data, exchanged ideas, and discussed practical challenges that affect the field, such as access to key experimental reagents, methods, and models. Several attendees expressed interest in expanding resource sharing and coordination to ensure that the wider research community can continue advancing together, an endeavor that the ARRE Foundation has already been leading and will now expand as a direct result of the scientific community’s voiced support!

Connecting research and community

One of the most meaningful moments of the event came during Sarah Scott’s presentation of the initial Family Research Engagement Survey results, which highlighted how families are helping shape ASXL research priorities. She closed with a photo of her son, Sammy, who has Shashi-Pena Syndrome (ASXL2) and a reminder of why the work that researchers are doing matters so much.

Attendees also shared positive feedback about the program overall, including from many first-time participants who left eager to continue collaborating with the ASXL research community.

Looking ahead

The 2025 ASXL Research Symposium demonstrated both the maturity and momentum of ASXL-related research. The connections made in Boston are already sparking new collaborations and ideas that will guide our next steps as a community.

We extend our sincere gratitude to every speaker, attendee, and supporter who contributed to this event’s success.