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.
  • 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

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