Weekly Updates! - August 2, 2024

Weekly Updates! - August 2, 2024

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

• New resource: Genetic report interpretation video!

• • • One need that we have found in the TBRS Community is an explanation of what a TBRS variant means - so we created a video to help!
      • With the help of our intern, Kaho, we created an explanation of a genetic report to follow along with
      • NOTE: not all reports are the same - dont panic if yours is different than the example!
    • Here is the link to the genetic report interpretation video. Please contact me if you have any questions or are confused!

• REMINDER: Opportunities to donate to the Biorepository

• • • With the growing interest in our samples, we will be needing more patient donations soon!
      • 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:
      • 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 kit@tbrsyndrome.org.

• REMINDER: Creating a map of TBRS patient and family locations!

• • • I have been working on a map that shows the general locations of TBRS patients and families, to show how our patients are globally spread and help others to see who might be in their area.

• This map is different from the previous Facebook map. This map will be published on the website without names or specific addresses.

• • • If you are interested in being included on this map, please consider completing our contact registry, Count Me In for TBRS!
    • Here is the full map!

• REMINDER: New Family Welcome Packet - Looking for Translations!

• • The TBRS Community New Family Welcome Packet is a resource that details all of the programs and research opportunities available to TBRS Community families.
  • We know our global community would benefit from translations of this resource, and others.
    • Currently, the New Family Welcome Packet is translated into Spanish
    • We also have our intern, Kaho, translating this resource into Japanese, which will be available soon.
  • If you are available to translate this resource into other languages, please consider volunteering! This would greatly benefit members of our community who speak other languages!
  • Click here to read the full news story and download the New Family Welcome Packet!

Thank you, and I hope you have a great weekend!Kit Church, CARE Manager