ASXL research and healthcare infrastructure: Context for understanding significant changes to U.S. federal policies
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.
Researchers in the ASXL Research Network
95% work in academic research institutions
68% are located in the United States
38% are young investigators
About the ASXL research landscape and infrastructure
Research is essential to advancing treatments and improving care for individuals with ASXL-related disorders. Research in this field primarily takes place at academic institutions and relies on federal funding. The following is a simplified explanation of the research infrastructure that currently supports ASXL research:
Research is necessary to discover treatments and improve clinical care for people with ASXL-related disorders. Basic science research is done in laboratories to understand the fundamental biology of a disease, such as what causes it and how it affects the body. Clinical research helps find better options for measuring, managing or treating a disease.
ASXL research, including basic science and clinical research, is happening almost exclusively at academic research institutions (universities). Research is expensive and includes costs such as researcher salaries, lab equipment and technology to run experiments, and supplies and materials.
The largest source of funding for academic research comes from federal agencies, including the National Institutes of Health (NIH). These grants are awarded through competitive processes that include detailed research proposals that are reviewed and scored by committees of other researchers. These peer review meetings are called “study sections.”
The research ecosystem that supports ASXL research depends on federal funding. While not many specific ASXL research projects have yet been funded by federal grants, researchers often incorporate ASXL research into their broader studies funded by NIH grants, even if ASXL projects are not the primary focus of those grants.
The academic research ecosystem supports a pipeline of well-trained young investigators and prepares them to be independent researchers. Academic training, including basic and clinical research, takes many years and typically happens under the mentorship of senior researchers and doctors. Federal funding helps support new researchers to start their own research labs or projects when their formal training is complete.
Academic research can also be highly collaborative with researchers sharing data, materials, methods, and samples between research studies. We are extremely fortunate to have a highly collaborative ASXL research community with strong relationships between researchers around the world.
Connection to the ARRE Foundation’s mission and research strategy
The ARRE Foundation is committed to advancing ASXL research by strategically funding initiatives that maximize impact. This strategy has been closely tied to leveraging federal funding sources:
Awarding pilot grants: Our research funding strategy has focused on how we can make the most of our relatively small investments in research to catalyze larger gains. We maximize our research investments by funding pilot grants that allow researchers to generate preliminary data around promising new ideas. This data can then be used in grant proposals for larger federal grants, expanding promising ASXL research.
Investing in young researchers: We strategically invest in early-career researchers to grow the ASXL research community. By funding travel grants to ASXL Research Symposia, we help them connect with families and global experts, fostering innovation and long-term commitment to ASXL research. Most of these young investigators will rely on federal research funding to start their own independent research careers and continue their work.
Examples of federal support: The ARRE Foundation’s programs and initiatives have benefited from federal funding support. This includes:
Support from two NIH R13 conference grants which supported the ASXL Research Symposium and Family Conferences, including $15,000 in 2022 and $30,350 in 2024.
A $99,983 research engagement award from the Patient-Centered Outcomes Research Institute, which is funded by federal sources.
Costs of data collection for the ASXL-Behavioral Phenotyping Study (ALPS) at the 2024 ASXL Family Conference was subsidized by the Intellectual and Developmental Disabilities Research Center at Kennedy Krieger, a program funded by the NIH.
Numerous members of the ASXL Research Network have federal funding that supports ASXL research.
Understanding proposed changes to Medicaid that could impact care
Many ASXL families in the U.S. rely on Medicaid funding for aspects of their loved one’s care through federal and state programs, including medical care, home nursing services, early intervention services, and medical equipment and supplies. Significant changes to Medicaid are proposed in the current federal budget. A budget plan that includes $880 billion in cuts to Medicaid was passed by the House of Representatives this week and is now in the Senate. Read more about how Medicaid supports people with disabilities
Advocacy and action: Where to find more information
As a small organization, we lean on our larger peer organizations to help us stay informed and guide calls for action that align to our mission of improving the quality of life for individuals with ASXL-related disorders through research and education.
The following advocacy organizations have missions similarly aligned to protecting and supporting research and medical care for people living with rare diseases and disabilities:
