Weekly Updates! - June 14, 2024

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

  • Scientific and Medical Advisory Committee meeting update from this week
      • This week, we held a Scientific and Medical Advisory Committee meeting
      • Some topics of discussion included:
        • Publishing TBRS Patient Registry data
        • Brainstorming Overgrowth Syndromes Conference
        • Working groups for diagnostic and clinical guidelines for TBRS
      • I will provide more information on all of these topics as they develop!
  • Consider sharing your genetic report
    • Help us advance Tatton Brown Rahman Syndrome research by sharing your genetic report!
    • Your genetic report can make a big difference for several reasons:
      1. It helps us advance research on TBRS and the different genetic variants TBRS individuals have
      2. It ensures we can confirm the TBRS diagnosis
      3. Having more patients with genetic reports helps support clinical trials and treatments
      4. It strengthens our community by helping us know how many people are diagnosed worldwide!
    • 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.
  • REMINDER: Opportunities to donate to the Biorepository!
    • We have more opportunities to donate to the TBRS Biorepository! 
    • Donating blood samples to the TBRS Biorepository contributes to further understanding TBRS and developing treatments
      • The TBRS Biorepository is a collection of patient samples that is readily accessible for research.
    • Below are the dates for upcoming rare disease conferences where you can donate to the Biorepository:
      • June 20-22 Denver, CO
      • July (TBD) – Philadelphia, PA
      • July 15 – Philadelphia, PA
      • July 27-28 – Philadelphia, PA
      • July 28-30 – Seattle, WA
      • September 25-28 – Atlanta, GA
      • October (TBD) – Nashville, TN
      • December 5-6 – Los Angeles, CA
    • If you are interested in donating to the TBRS Biorepository at any of these locations, please contact [email protected]
  • REMINDER: Learn more about Count Me In for TBRS and find out how it benefits research!
    • Count Me In for TBRS is a Patient Directory. This is a private collection of information from the TBRS community, including contact, location, genetic variant, and clinical information. 
    • This information is important to better estimate the number of patients with TBRS and their location to learn more about TBRS and encourage treatment development. This also helps to identify clinicians for other patients.
    • No identifiable information will ever be shared with outside parties. 

Thank you, and I hope you have a great weekend!

Kit Church, Research Coordinator

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