Weekly Updates! - March 27, 2026

Hey all! It's been a few weeks since the last update. I have a quick recap from the TBRS Summit, as well as a few research reminders!:

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• TBRS Community 2026 Summit Recap (March 18–22, San Antonio, TX)
  
  • Thursday, March 19 – Scientific Day (Researchers & Clinicians)
    
    • A dedicated scientific exchange day focused on advancing TBRS research through collaboration.
    • Key topic areas included:
      
      • Biology and mechanisms of TBRS
      • Biomarkers and candidate outcome measures
      • Treatment development and patient-centered research priorities
    • Highlights:
      
      • Workshops integrating family perspectives directly into scientific discussions.
      • Open discussions and networking sparked new collaborations and follow-up opportunities.
      • Multiple working groups formed to continue progress after the Summit.
  • Friday, March 20 – Research + Family Programming
    
    • A full day blending education, research, and community support.
    • Highlights:
      
      • Dr. Kate Tatton-Brown delivered a genetics presentation and Q&A, sharing insights from her pioneering work identifying DNMT3A-related overgrowth syndromes.
      • Sessions on neurology, behavior, and cognitive concerns helped families better understand clinical aspects of TBRS.
      • Continued emphasis on connecting patient priorities to research directions.
  • Saturday, March 21 – Patient Priorities & Clinical Insights
    
    • Focused on deepening patient engagement and shaping future research.
    • Highlights:
      
      • Presentations on hematology/oncology, cardiology, and other clinical concerns in TBRS.
      • Dr. Vicken Totten co-presented on aortic dilation, research participation, and upcoming studies, bringing both clinical expertise and lived experience as a parent.
      • Patient Priority focus groups collected critical input to guide the PRISM research roadmap.
  • Recordings of Summit sessions will be uploaded to YouTube and shared with the community in the coming weeks!

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• Need for EKGs and Echos for a heart study
  
  • One study is requesting Electrocardiograms (ECG or EKG) & Echocardiograms (Echo) to address heart concerns in TBRS.
  • Reports can be uploaded to the TBRS Patient Registry or emailed to kit@tbrsyndrome.org to upload

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• Lets learn more about bone health in TBRS!
  
  • Dr. Vicken Totten, a parent of a person with TBRS, is conducting a research study about bone health in people with Tatton Brown Rahman syndrome (TBRS).
    
    • If your child or loved one has a TBRS diagnosis, you can help by completing a short survey about bone-related concerns such as fractures, pain, or other bone issues.
    • Participate by using this link

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

Kit Church, CARE Manager