Hello! I hope everyone has had a great week. Just a quick reminder this week:

• • REMINDER: TBRS Registry → call for uploads
    • TBRS research and care have come so far — thanks to YOU and the data shared in the TBRS and DNMT3A Patient Registry.
    • Now we need your help again with a time-sensitive, specific call to upload reports and medical records to support TBRS and DNMT3A Research Projects.
    • If you only have time for a few uploads, please prioritize:
      • Neuropsychological evaluation and/or Psychological evaluation reports
      • Educational reports (OT, PT, speech, cognitive testing)
        • (It’s okay if they are not in English. Upload reports from throughout the years. The more the better!)
    • Next level of priority:
      • Imaging reports (brain, heart, abdominal — MRI, MRA, ultrasound, echocardiogram, CT, etc)
      • EEG and EKG reports
      • Specialist reports
      • Growth charts
    • Upload or update your records securely here: https://tbrsregistry.iamrare.org/
      • These can be uploaded in the survey titled Genetic Tests, Imaging, and Medical Testing
      • We’re happy to meet with you on Zoom if you need help uploading. Just let us know.
      • Thank you for continuing to move TBRS research forward.

Thanks! I’ll be out at the end of next week, but will have more updates on Friday, September 5.

Please reach out to me with any questions at [email protected]. Happy weekend!

Kit Church, CARE Manager