In this 12-minute fireside chat hosted by Family Education and Engagement Coordinator Sarah Scott, Chief Scientific Officer Dr. Karen Ho explains the path to future treatments for ASXL-related disorders, including Bohring-Opitz Syndrome (ASXL1), Shashi-Pena Syndrome (ASXL2), and Bainbridge-Ropers Syndrome (ASXL3). The following questions are discussed:
What is the outlook for treatments for ASXL-related disorders?
- Karen shares her optimism for finding treatments for ASXL-related disorders when there is an answer to a key question for ASXL1, ASXL2, and ASXL3 which is, “What happens when there is a mutant protein?” She describes two potential scenarios for what may be happening in the ASXL genes when there is a mutated gene with visual aids.
- Karen explains different types of medications, including gene therapies and small molecules, that could be used to treat ASXL-related disorders in the future.
Why is understanding the disease mechanism is important before creating treatments?
- Using the analogy of fixing a car with different tools, Karen describes why we need to understand the function and impact of mutated ASXL genes before we try to fix it, including concern for making the problem worse and doing additional harm if we don’t understand the problem before designing a treatment.
What is the ARRE Foundation doing to move us toward treatments?
- Karen explains the ARRE Foundation research goals to support the scientific foundation for future therapies through investment in basic science projects, while continuing to support clinical research.
What can ASXL families do to support progress toward treatments?
- Sarah explains the two primary ways for ASXL families to contribute toward progress which includes contributing or raising funds to support the significant costs of research and actively participating in clinical research studies
Published: November 2025
Additional related resources include:
The information presented here is for educational purposes only. This information is not medical advice and should not be treated as such. You should always talk to your or your family member’s health care professionals for diagnosis and treatment, including information regarding which drugs or treatment may be appropriate for you or your family member. We do not represent or warrant that any particular treatment is safe, appropriate or effective for you or your family member. In the event of a medical emergency, you should contact your doctor immediately or call your local emergency service.
