Weekly Updates! - May 31, 2024

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

  • 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 of TBRS and developing treatments
      • Below are the dates for upcoming rare disease conferences where you can donate to the Biorepository:
        • June 7-8 San Diego (Coronado), CA
        • 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]
  • 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 different variants
  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.
  • TBRS Disease Concept Model
    • We have a graduate researcher creating a disease concept model for TBRS.
      • A disease concept model is an analysis of all current TBRS literature, and interviews with TBRS families to gather information that has not been reported, to fully describe the disorder. 
      • This is like a precursor to clinical guidelines, and helps get information published that might not be in literature at the moment!
    • We are beginning to schedule interviews for the Disease Concept Model, to get information on the patient experience. 
      • If you are interested in participating in this project through an interview, please reach out to me at [email protected].

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

Kit Church, Research Coordinator

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