Weekly Updates! - January 31, 2025
Hey everyone! I hope everyone had a great week. Just a few updates and reminders from the TBRS Community:
- Official launch of 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 next week!
- Our goal with this new registry is to collect data more efficiently and make it easier for families to complete!
- Some of the other 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 have paused the current Patient Registry. Until we launch next week, YOU WILL NOT BE ABLE TO ACCESS YOUR REGISTRY ACCOUNT.
- Once we have launched, you will receive an email with instructions to continue with the new Registry.
- Please email me with any questions! [email protected]
- We have been working to update our Patient Registry for some time now, and are excited to announce that we will be launching next week!
- REMINDER: Our Regional Coordinator program has launched!
- 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).
- Please complete this quick 3 question survey if you are interested in being connected with your 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!
- Excited to participate? Fill out the form here: https://form.jotform.com/tbrsyndrome/tbrs-biorepository-donor-survey
- We’re excited to announce that we’re officially starting the first step of our Drug Discovery and Repurposing Program!
Thanks! I hope you have a great weekend!
Kit Church, CARE Manager