Weekly Updates! - September 12, 2025

Hello! I hope everyone has had a great couple of weeks. I apologize for missing a few weeks of updates, I came back from my vacation with COVID, but am starting to feel better!

I have a few updates this week:

• Special Call for Medical Reports in the TBRS Patient Registry

• • • The TBRS Patient Registry is helping us track how TBRS evolves over time, find patterns between individuals, and move closer toward treatment development.
    • Multiple researchers are currently reviewing registry data for further studies.
      • We are now doing a special call for medical reports—please consider uploading these to the Patient Registry!
      • We’re especially prioritizing psychiatric, cognitive, and developmental testing records.
    • Office hours for support:
      • Mondays at 9:30 AM ET
      • Thursdays at 4:00 PM ET
      • Book private time with me here
    • How to upload reports:
      • Sign in to your account: tbrsregistry.iamrare.org
      • Click on the participant name
      • Click Pending Surveys
      • Scroll to the bottom and find “Genetic Tests, Imaging, and Medical Reports”
      • Retake this survey to upload reports
    • This is also a great time to update surveys if there have been any medication changes, surgeries, or new diagnoses.
    • View the TBRS Community Calendar for events and office hours.
    • Thank you to everyone who has already participated! Please reach out to me anytime: kit@tbrsyndrome.org

• Upcoming: TBRS Friends and Family Support Group – September 14, 2025

• • • This event will take place Sunday, September 14, 2025 at 3:00 PM Eastern Time via Zoom
      • Here is the link to join:
      • https://us02web.zoom.us/j/86396611413
    • The TBRS Community offers a monthly Friends and Family Support Group via Zoom. Families from all around the world can participate. We create a safe place to share thoughts, feelings, concerns, and emotions without judgment. The meeting seems to take a different shape every time we gather—sometimes we focus on sharing resources or experiences, but we always seek to make everyone feel comfortable and supported.
    • Any parents or caregivers of someone diagnosed with TBRS are welcome.

• Updates from the Scientific & Medical Advisory Committee meeting this week

• • We were excited to welcome several new members to our Scientific and Medical Advisory Committees, bringing valuable expertise in genetics, neuroscience, and clinical care.
    • Welcome to Dr. Marcal Pastor Anglada (also a TBRS parent), Dr. Laura Lavery, and Dr. Katherine King!
  • The group learned about a new partnership with the RTW Foundation, which will help us strengthen our research strategy and move closer toward treatments for TBRS.
  • We announced a Pre-Summit Virtual Science Day prior to the TBRS Summit in San Antonio, TX (March 18–20, 2026).
    • This will allow scientists more time to discuss issues in person!
  • We are also preparing the release of the updated TBRS Research Roadmap, which outlines our community’s research goals and next steps.
    • Once it is completed, the full scientific version will be posted on the website, as well as a family friendly summary!
  • We’re grateful to the committee for their dedication and to all families for your continued partnership in advancing research!

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

Kit Church, CARE Manager