Monthly Updates! - October 2026

Hey all! It's time for monthly updates again! October has been a busy month behind the scenes, with lots of exciting work happening in research, community engagement, and planning for what's next. Here are a few quick updates from October!

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• TBRS Patient Priorities Workshop & PRISM Roadmap
  
  • On October 28, we held our TBRS Patient Priorities and PRISM Roadmap Feedback and Discussion workshop as part of our PCORI-funded project!
    
    • Over the past several months, we've been gathering feedback directly from individuals with TBRS and their families to better understand what matters most to them when it comes to research.
  • During the workshop, we shared what we've learned, introduced our new PRISM Research Roadmap, and discussed research questions that could help guide future TBRS studies.
    
    • We're now wrapping up our project and gathering feedback from participants to help us improve future research opportunities that include individuals with TBRS!
    • Recording available soon!

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• Were You Part of Our TBRS Patient Priorities Project? We'd Love Your Feedback!
  
  • As our PCORI-funded TBRS Patient Priorities project wraps up, we want to hear from YOU!
    
    • If you participated in any part of this project, whether through an interview, focus group, workshop, or another activity, we'd love for you to complete our short evaluation survey.
    • Your feedback will help us understand what worked well, what we could improve, and how we can make future research projects more accessible and meaningful for individuals with TBRS and their families.
  • Click here to complete the evaluation survey!
    
    • We're also working on making recordings and materials from the project available soon, including resources from our October 28 Patient Priorities Workshop. Stay tuned!
  • Thank you to everyone who participated, shared their experiences, or helped make this project possible. Your voices are helping shape the future of TBRS research!

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• TBRS Biorepository & Research Donations
  
  • We've continued working with researchers and families to coordinate donations to the TBRS Community Biorepository and other research projects!
    
    • These donations, which may include blood or other biological samples, are incredibly valuable. They help researchers better understand TBRS and can make it easier for future studies to get started without needing to collect new samples from families each time.
    • This month, we've been helping coordinate some unique tissue donation opportunities for research, too!
  • We're also exploring an opportunity for families in the Denver, Colorado area to participate in sample collection on December 3 - 4. 
    
    • Close families have been contacted, but if you are interested in this opportunity, please reach out! 
    • Click here to coordinate a sample donation to the TBRS Biorepository.

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• TBRS Patient Registry & Natural History Study
  
  • Work with the TBRS Patient Registry continues! We've been updating records, following up on missing information, and helping researchers and families find answers to questions about TBRS.
    
    • This month, we've also been looking into questions from the community about aging and independence in individuals with TBRS, using information families have shared through the Registry.
  • Planning is also continuing for the next year of the TBRS Natural History Study pilot program, including coordinating assessments and preparing for upcoming research visits.
    
    • These efforts help us build a clearer picture of how TBRS affects individuals at different ages and stages of life.
  • If you haven't joined the Registry yet, have surveys you still need to complete, or haven’t updated your responses in a while, your participation can help make a difference!
    
    • Click here for the TBRS & DNMT3A Patient Registry

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• Connecting Researchers & Moving TBRS Research Forward
  
  • We've continued working with researchers and our TBRS Industry Outreach Working Group to identify research gaps, share resources, and discuss opportunities for future TBRS treatments.
    
    • This month, the working group reviewed updates to our Research Roadmap, including areas where more research is needed.
    • We've also been connecting with researchers studying DNMT3A, heart-related conditions, and other genetic overgrowth syndromes to explore opportunities for collaboration.
  • These conversations are an important part of helping researchers learn more about TBRS and making sure our community's priorities are represented as new research develops.

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• Explore Our Interactive TBRS Gene Variant Map!
  
  • Have you checked out our interactive DNMT3A Gene Variant Map yet?
    
    • This map shows the different genetic variants associated with TBRS and where they are located along the DNMT3A gene. You can zoom in and hover over the graph to explore the different variants!
  • As of mid-2026, we're aware of more than 140 different gene variants associated with TBRS, and we're continuing to collect more information!
    
    • Want to make sure your loved one's variant is included? You can help us keep this resource up to date by sharing your genetic variant information through either the TBRS Patient Registry or Count Me In for TBRS!
  • Check out the map under the "Gene Variants" section of our Research Resources page.

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• We're Located Everywhere! - Check Out Our Map of TBRS Families
  
  • Did you know we have an interactive map showing where TBRS families are located around the world?
    
    • Our TBRS community continues to grow, and it's pretty amazing to see just how far our community reaches!
    • You can explore the map, zoom in on different regions, and see where other TBRS families are located. It's a great reminder that no matter where you live, you're not alone!
  • Don't see your area represented? Make sure you're included by completing Count Me In for TBRS! 
    
    • Count Me In also helps us connect families with Regional Coordinators and other community resources.
  • Visit the "We're Located Everywhere!" section of our Families, Caregivers & Patients page to explore the map!

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As always, please reach out to me with any questions at kit@tbrsyndrome.org. Hope you have a great fall, and a happy halloween to those who celebrate!

Kit Minor, CARE Manager