New research awards fuel increased understanding and treatment development for ASXL-related disorders
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 at UCLA. In parallel, the ARRE Foundation has selected leading research institutions to receive multiple basic science grants to better understand the biological mechanisms of ASXL-related disorders. This includes a new partnership grant with the American Brain Foundation and new $60,000 grants to the University of Michigan and additional recipients to be announced.
For a community that has long faced limited research attention due to the ultra-rare nature of these conditions, the ARRE Foundation’s investment demonstrates a deep commitment to advance the field in meaningful, targeted ways that establish the fundamental science upon which multiple drug discovery programs can be built. This new wave of grant funding is the direct result of years of consistent, active participation from families across the ASXL community, whose contributions of data, experiences, grassroots fundraising, and biological samples have made this next phase of research possible.
“Everything we are funding today is built on the participation of our community,” said Amanda Johnson, Executive Director of the ARRE Foundation. “ASXL families are driving this progress by participating in research studies and raising the funds to support these research investments. Our responsibility now is to ensure that those contributions are translated into real scientific progress. This is exactly what we said we would do, and we are doing it.”
This latest round of funding is designed to address some of the most critical gaps in ASXL research, with a clear focus on both understanding the underlying biology of these conditions and improving how they are measured and managed in real life. By investing in a coordinated portfolio of studies, the ARRE Foundation is ensuring that progress is not happening in isolation, but as part of a broader, connected effort to move the field forward.
At a practical level, this means supporting research that can answer fundamental questions about how ASXL genes function, what happens when they are altered, and how those changes affect individuals across the lifespan. It also means investing in clinical research that defines the cognitive, behavioral, and functional characteristics of ASXL-related disorders, so that future treatments can be tested in ways that reflect meaningful improvements in daily life. Together, these efforts are helping to build the scientific and clinical foundation required to move from understanding to intervention.
“These investments are very intentional,” said Dr. Karen S. Ho, Chief Scientific Officer of the ARRE Foundation. “We are funding research that helps us answer the most important questions we still have about ASXL-related disorders, both at a biological level and in terms of how these conditions affect individuals’ day to day lives. By focusing on these areas, we are building the knowledge and tools that will be needed to develop and test future treatments. Ultimately, this work is about improving the lives of individuals and families in our community, and making sure that when technological advances that can lead to safe and effective treatments are developed, we are ready for them.”
Rather than funding isolated projects, the ARRE Foundation is building a connected research ecosystem – one that links patient data, biological samples, and scientific investigation in a way that can support long-term progress.
“This is what discovery looks like in rare disease research,” said Dr. Ho. “It is a process of building knowledge step by step. Each study adds another piece to the puzzle, helping us move closer to understanding how ASXL-related disorders work and how we can intervene.”