Weekly Updates! - May 22, 2026

Hey all! I have a few quick updates this week:

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• Launching the Natural History Study in St. Louis: 
  
  • We are kicking off our Natural History Study at Washington University in St. Louis at the end of next week.
  • This study will collect clinical data over three years to better understand TBRS and support future research.
    
    • The first group includes 10 individuals, selected by study staff based on availability, genetic variant, and symptom presentation.
  • We hope to expand this effort to additional locations, increasing access to TBRS-informed clinicians and growing our dataset.
  • This has been a long time in the making, and we’re excited to see how this pilot develops—more updates to come after the event!

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• Resource Highlight: The TBRS Patient Priority Survey
  
  • The Patient Priority Survey is a short survey designed to capture what matters most to individuals with TBRS and their families
    
    • This ensures that research is guided by real community needs and lived experiences.
  • The survey asks patients and caregivers to share their top research priorities, helping shape the direction of future studies and encouraging a more patient-driven research agenda.
    
    • These insights are used to prioritize research goals, guide funding decisions, and align scientists and clinicians with the community’s most pressing concerns.
  • Developed in collaboration with the Overgrowth Syndromes Alliance, this survey helps ensure TBRS research reflects the needs of the broader overgrowth and intellectual disability community.
    
    • The survey can be completed by individuals with TBRS and/or caregivers (one response per individual), and support is available if you need help completing it.
    • Participation is voluntary, and responses are handled securely.
  • Click here to participate and ensure that TBRS research focuses on what truly impacts day-to-day life and long-term outcomes for patients and families.

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

Kit Minor, CARE Manager