Weekly Updates! - April 24, 2026

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

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• Resource Highlight: TBRS Fact Sheet‍
  
  • We created a simple, easy-to-read fact sheet to help families, caregivers, and clinicians quickly understand Tatton-Brown-Rahman syndrome (TBRS)
    
    • Covers key information like common features, genetics, and care consideration
    • Great for sharing with doctors, therapists, teachers, or anyone involved in care‍
  • You can download it here or find it included in our New Family Welcome Packet for easy access
    
    • As we learn more about TBRS, this fact sheet may be updated to reflect the latest information
  • If you or your care team have questions or want help using this resource, reach out anytime—we’re happy to support you and your clinicians

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• Research Update: New TBRS iPSC Line Available
  
  • We’re excited to share that a new iPSC (induced pluripotent stem cell) line has been created for TBRS!
    
    • This line carries the variant c.1627G>T (p.Gly543Cys)
    • It is now available to researchers to support studies on TBRS biology, gene function, and potential treatments
  • Expanding the number of available iPSC lines helps ensure research reflects the diversity of variants in our community
  • What is an iPSC?
    
    • An induced pluripotent stem cell (iPSC) is a cell that has been reprogrammed from adult cells (like skin or blood) back into a stem cell state
    • These cells can then be turned into many different cell types (like brain cells or heart cells) in the lab
    • This allows researchers to study TBRS in a controlled environment and better understand how specific variants affect the body
  • Resources like this are only possible because of community participation and support. Thank you for helping drive TBRS research forward!

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

Kit Church, CARE Manager