Blog

Hey everyone! I hope everyone had a great week. Just a few updates and reminders from the TBRS Community:

• • 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]

• Summary from an Overgrowth Syndromes Alliance (OSA) scientific meeting today 

• • • Reminder: The Overgrowth Syndromes Alliance (OSA) is a joint project with our colleagues at the Malan Syndrome Foundation, aiming to find similarities between and treatments for many Overgrowth Intellectual Disability syndromes (OGIDs).
    • This morning we had another installment of the OSA Speaker Series, an event series designed to give scientists and clinicians a space to discuss and collaborate together on Overgrowth-centered topics. 
      • This week, we had 35 researchers, clinicians, and collaborative research network members in attendance.
      • Dr. Fahrner presented on Overgrowth and Intellectual Disability syndromes, and the progress at the bench and the bedside. 
      • We also had a short presentation on the patient perspective from a Weaver Syndrome patient and the tallest woman in the world, Rumeysa Gelgi!

• REMINDER: 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!)

• 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

Thanks! I hope you have a great weekend!

Kit Church, CARE Manager