Weekly Updates! - June 21, 2024

Weekly Updates! - June 21, 2024

Hello everyone! I hope you’re having a great week! Here are some TBRS Community updates from this week:

• • Thanks to everyone who uploaded echocardiograms, EKGs, and cardiac data!
    • These have been sent to a researcher studying patterns of heart problems in TBRS. We’re excited to see what this research discovers!
      • Thanks again for the quick uploads from families! It is inspiring to see how engaged in research our community is!
      • To participate in the TBRS Patient Registry click here.
  • REMINDER: TBRS Registry → call for MRI imaging data - INFO coming soon
    • We have a researcher who is interested in studying how an area of the brain is affected in TBRS through the use of MRI data from the registry.
      • If you have MRI reports and/or images that you have not uploaded to the patient registry, we encourage you to do so!
      • I will be looking into how best to obtain this data in the coming week and will share this information next friday.
        • MRI data can also be sent to our Research Coordinator at kit@tbrsyndrome.org.
        • To upload to the registry, please click here.

• REMINDER: Consider sharing your genetic report

• • We have had several patients in the past few months who think that they have TBRS - but looking at their genetic report showed they have a different disorder!
    • This is one of the many reasons that we ask for genetic report uploads. This not only helps research, but helps to find areas of confusion.
  • We kindly ask you to consider sharing your genetic report with us by uploading it to the TBRS Patient Registry or to Count Me In For TBRS. Your participation can make a huge difference and help us move closer to better understanding and treating TBRS.

Thank you, and I hope you have a great weekend!Kit Church, Research Coordinator