Weekly Updates! - July 31, 2026

Hey all! I apologize for my lack of updates, it's been a hectic summer! I have a few quick updates from the last several weeks:

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• Update on our PCORI Patient Priorities project 
  
  • I wanted to share a quick update on our Patient-Centered Outcomes Research Institute (PCORI) project! 
    
    • This project is helping us better understand the needs, experiences, and priorities of people with TBRS and their families so we can guide future research in a way that truly reflects our community.
  • Many of you helped by joining interviews and focus groups, including sessions we held during the Summit—thank you! 
    
    • Your time, honesty, and insights are incredibly important and will make a real difference.
  • Behind the scenes, our team has been hard at work. We are almost finished transcribing all of the interviews, and we’ve started the next step called “coding,” where we look for themes and patterns in what everyone shared.
  • We’re excited to keep this moving forward! 
    
    • Our goal is to finish coding and begin analysis soon, and we hope to have more results and updates to share with you by the end of September or early October.

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• Cardiac reports update
  
  • Thank you so much to the families who have uploaded cardiac reports to the Registry or sent them directly to us for the researcher. 
    
    • We truly appreciate your time and willingness to help move this work forward.
  • We’re happy to share that these reports have now been de-identified (all personal information removed) and safely sent to the researcher for review.
  • This is an important step toward better understanding heart conditions in TBRS, and your contributions are making a real impact.
    
    • We’ll continue to share updates as we have them and hope to have more information to report back soon!

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• The TBRS Industry Outreach team
  
  • We’ve recently brought together a team of researchers, family members, and partners to help us connect with biotech companies and explore possible treatment opportunities for TBRS.
  • We’ve already had a few meetings with different groups, and these conversations have sparked new ideas—especially around new and emerging technologies.
    
    • This is an exciting early step, and we’re hopeful that these connections will lead to more productive conversations and future opportunities for our community.
  • We’ll keep you updated as this work continues to grow!

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• Questions about TBRS symptoms or treatments? 
  
  • Did you know you can reach out to me with questions about TBRS symptoms or medications? I’m here to help!
  • If you’re noticing something new or have questions about treatments, I can look into our Patient Registry data and published research to help find helpful information.
    
    • While I’m not able to give medical advice, I can share what has been reported by other families and what researchers have published.
  • Feel free to reach out anytime—your questions are always welcome, and I’m happy to help however I can!

Thanks! Please reach out to me with any questions at kit@tbrsyndrome.org. Happy weekend!

Kit Minor, CARE Manager