Hello. I hope everyone has had a great week. Here are a few updates from this week:

• REMINDER: New Office Hours with Kit Church!
• • • Have questions about research, need help with the TBRS Patient Registry, or want to learn more about community programs? Join me, Kit Church, during weekly office hours!
    • Schedule:
      • Mondays & Wednesdays: 9:30 – 10:10 AM ET
      • Thursdays & Fridays: 4:00 – 4:40 PM ET
    • Click here to access the TBRS Community calendar, where links can be found!
    • If these times don’t work, email me at [email protected] to schedule another time. 

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

Kit Church, CARE Manager