Weekly Updates! - January 17, 2025
Hey everyone! I hope everyone had a great holiday season. Just a few updates and reminders from the TBRS Community:
- Launching our new and improved Patient Registry!
- We have been working to update our Patient Registry for some time now, and are excited to announce that we will be launching in a few weeks!
- Some of the changes included in our new registry are using standardized surveys, adding Heyn Sproul Jackson Syndrome to our Registry (HESJAS is a different syndrome also caused by the DNMT3A gene), and translating the Registry into other languages.
- To prepare for the launch of the new platform, we will be pausing the current Patient Registry on Monday, January 27. If you have any updates to include to the Registry, please do so by this time – during the pause, you will not be able to access your account or surveys!
- To participate in the TBRS Patient Registry, click here! (but again, remember it will be paused starting January 27!)
- We have been working to update our Patient Registry for some time now, and are excited to announce that we will be launching in a few weeks!
- Our Regional Coordinator program is launching SOON!
- Regional Coordinators are volunteers located across the globe who are responsible for sharing TBRS Community programming and research information with their region, coordinating events and meet-ups for the area, and ensuring that all TBRS families are receiving the support they need.
- For more information on this role, please visit the TBRS Volunteer form (page 6).
- I will be sending around a quick 3 question survey for those who are interested in being connected with their Regional Coordinator.
- If you are interested in becoming a Regional Coordinator, it’s not too late to join!
- Please reach out to me at [email protected]
- Regional Coordinators are volunteers located across the globe who are responsible for sharing TBRS Community programming and research information with their region, coordinating events and meet-ups for the area, and ensuring that all TBRS families are receiving the support they need.
- REMINDER: We’re launching our Drug Discovery and Repurposing Program and collecting patient samples!
- We’re excited to announce that we’re officially starting the first step of our Drug Discovery and Repurposing Program!
- This project will help accelerate research and work toward better treatments for those affected by TBRS.
- Here’s how YOU can help:
- We are collecting nasal swabs from individuals with TBRS and a same-sex control (preferably a sibling, or a parent if a sibling is unavailable).
- Swabs can be collected internationally, so families around the world can contribute!
- We’re excited to announce that we’re officially starting the first step of our Drug Discovery and Repurposing Program!
- Excited to participate? Fill out the form here: https://form.jotform.com/tbrsyndrome/tbrs-biorepository-donor-survey
Thanks! I hope you have a great weekend!
Kit Church, CARE Manager
