Weekly Updates! - June 5, 2026

Hey all! I have one quick update this week:

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• Natural History Study & Multidisciplinary Clinic: A Successful Week in St. Louis
  
  • Last week, we were proud to host our first Natural History Study and multidisciplinary clinic at Washington University in St. Louis, bringing together 10 incredible TBRS families for an impactful and meaningful experience.
    
    • Throughout the week, participants met with a wide range of specialists, including experts in genetics, neurology, cardiology, hematology, oncology, and orthopedics.
    • Families had the opportunity to engage directly with clinicians, ask questions, and receive individualized insights into their or their child’s symptoms and care. These conversations provided valuable guidance for symptom management and next steps in care.
  • In addition to clinical consultations, participants contributed to critical research efforts through comprehensive data collection, including echocardiograms, EKGs, EEGs, X-rays, and blood draws.
    
    • This data will be securely integrated into the TBRS Patient Registry, where it will help researchers better understand the natural history of TBRS over time and identify patterns that may inform future care and treatment approaches.
    • A key success of this study was the ability to bring families and clinicians together in one place—something that is often difficult for rare disease communities. This model not only supports individual families but also strengthens the broader research ecosystem.
  • We are incredibly grateful to the families who traveled, participated, and shared their time and experiences. Your involvement is what makes this work possible and meaningful. We also extend our sincere thanks to the clinicians, researchers, and staff at Washington University in St. Louis for their collaboration, expertise, and dedication to the TBRS community.
  • We look forward to sharing updates as this data begins to inform future research and to expanding opportunities for participation in studies like this in the future.

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

Kit Minor, CARE Manager