ARRE Foundation awards new research grant focused on ASXL3 disease mechanisms and future therapeutic development
The ASXL Rare Research Endowment (ARRE) Foundation has awarded a $60,000, one-year research grant to Stephanie Bielas, PhD, of the University of Michigan Medical School to support a new project titled, Testing the genetic mechanisms of pathogenic ASXL3 variants.
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. By studying variants identified in individuals with Bainbridge-Ropers Syndrome, the project aims to improve understanding of the underlying disease biology and establish an interpretable framework that may eventually help identify drug candidates capable of correcting those cellular changes.
“Developing safe and effective treatments starts with understanding the basic biology of these disorders,” said Dr. Karen Ho, Chief Scientific Officer of the ARRE Foundation. “This project addresses a critical gap in our understanding of ASXL3 function and provides an important foundation for future therapeutic exploration. Foundational science like this is essential if we want to move the field toward rational, evidence-based treatment development.”
The award is part of the ARRE Foundation’s broader strategy to expand investment in foundational and translational research across ASXL-related disorders, which include Bohring-Opitz Syndrome (ASXL1), Shashi-Pena Syndrome (ASXL2), and Bainbridge-Ropers Syndrome (ASXL3).
“Families affected by ASXL-related disorders cannot afford for research momentum to slow,” said Amanda Johnson, Executive Director of the ARRE Foundation. “We believe patient advocacy organizations have an important role to play in supporting innovative science, especially in areas that may still be considered too early-stage for larger funding mechanisms. We are proud to support Dr. Bielas’ work and grateful to the donors who make this type of investment possible.”
The ARRE Foundation has increasingly focused its research strategy on supporting projects that strengthen understanding of disease mechanisms, improve research infrastructure, and create the scientific foundation needed for future treatment development efforts and improvements in clinical care.
Dr. Bielas is a faculty member at the University of Michigan Medical School, where her research focuses on the genetic and molecular mechanisms underlying neurodevelopmental disorders.