Research Roadmap
A strategic plan to lead us toward life-improving treatments as quickly and efficiently as possible
About the Research Roadmap
There are thousands of things we could be studying to learn more about ASXL disorders and how to treat them. As the primary funder of ASXL research, we want to fund the research that will have the biggest impact on families who live with ASXL syndromes every day. This Research Roadmap will help ensure that the research we fund is work that our collective community has identified as significant.
The development of the Research Roadmap will be led by families in close collaboration with the medical and scientific community, as well as external experts who can advise us.
The Research Roadmap is intended to:
Guide the ARRE Foundation’s funding decisions to support projects that have been defined collaboratively by families, clinicians, and researchers as significant
Inspire scientific collaborations to work toward the identified strategic priorities
Catalyze community participation in fundraising to support the identified strategic priorities
Products from the Research Roadmap development process
-
Building a Research Roadmap for ASXL-related disorders: Determining family research priorities
Poster presented at the 2022 NORD Breakthrough Summit - Top 5 poster (Washington, DC)
-
Expanding the ASXL Research Network
Poster presented at the 2023 Chan Zuckerberg Initiative Science in Society Annual Meeting (Newport Beach, CA)
-
Building a Research Roadmap for ASXL-related disorders: Determining family research priorities
Poster presented at the 2023 NORD Breakthrough Summit (Washington, DC)
Published symptoms and clinical features
-
Chart: Published symptoms and clinical features of ASXL1-related disorder (Bohring-Opitz Syndrome)
This chart includes a list of clinical features of ASXL1-related disorder (Bohring-Opitz Syndrome) in 63 individuals who have been documented in the published research as of October 2023.
-
Chart: Published symptoms and clinical features of ASXL2-related disorder (Shashi-Pena Syndrome)
This chart includes a list of clinical features of ASXL2-related disorder (Shashi-Pena Syndrome) in 14 individuals who have been documented in the published research as of October 2023.
-
Chart: Published symptoms and clinical features of ASXL3-related disorder (Bainbridge-Ropers Syndrome)
This chart includes a list of clinical features of ASXL3-related disorder (Bainbridge-Ropers Syndrome) in 109 individuals who have been documented in the published research as of October 2023.
Additional project deliverables
Focus group summary
We conducted focus groups with nine families in March 2022 about research priorities.
Family survey results
205 families took the Research Roadmap Family Survey in May 2022.
September 2022 update
Video update from ARRE Foundation executive director about the Research Roadmap project
The ARRE Foundation hosted a strategic planning meeting with representatives from all stakeholder groups within the ASXL syndrome community, including doctors, researchers, and families who work with or live with Bohring-Opitz, Shashi-Pena, and Bainbridge-Ropers Syndromes.
The meeting was facilitated by our partners at COMBINEDBrain, a consortium of rare neurodevelopmental patient advocacy groups. COMBINEDBrain developed a landscape assessment which included the tools, assets, and knowledge we have about the ASXL genes and syndromes and where our knowledge and resource gaps are. Amanda Johnson from the ARRE Foundation also presented the results of the Research Roadmap family survey that provided insights into family research priorities.
The group worked in breakout groups to generate and prioritize ideas in three areas:
Basic research: What scientific knowledge and tools are needed to understand the mechanism of disease and how to lessen its impacts?
Pre-clinical trial readiness: What do we need to have to be ready for future clinical trials?
Treatments and care: What needs to be developed to improve the management and care of individuals with ASXL-related disorders?
Next steps
Our next steps are to take the list of prioritized ideas from the meeting and work with smaller groups to turn the to do list into an actionable strategic plan that includes a timeline, level of effort, cost, and resources. The written plan is anticipated in early 2023.
Several action items from the strategic planning meeting can be implemented immediately and are already underway, including:
Hosting a virtual quarterly meeting for the scientific community to continue discussions and collaborations
Launching an email group for the scientific community to communicate more easily
Sourcing a list of doctors and healthcare providers from families who are treating their children to build the clinical network
What you can do to help
The bottom line is simple: We need funds to implement the Research Roadmap projects that will include everything from hiring the expertise we need to guide our scientific strategy to funding specific research projects.
Please consider what you can do to help raise funds this year and get us off to a strong start to begin implementing this plan in 2023. Some of our goals for the coming months include:
Growing our peer-to-peer fundraisers: Awareness Days, GivingTuesday (November 29), birthdays, and other special occasions are the perfect opportunity to fundraise online or by hosting a house party, lemonade stand, or other fun gathering. Learn more
Piloting a regional walk/run/roll fundraiser: These in-person events are great community builders and fundraisers. If you live in an area where there are several ASXL syndrome families and have interest in coordinating a walk, please reach out Amanda Johnson (amanda@arrefoundation.org).
Building our network of major donors: If you or someone in your network may be interested in supporting this work with a meaningful gift, please reach out to Amanda Johnson (amanda@arrefoundation.org). We are also looking for ASXL syndrome families who have personal connections to private family foundations and employers with corporate giving programs or matching funds.