Monthly Updates! - September 2026

Hey all! As a reminder, I’ll be posting this monthly blog of updates from the previous month on the last friday of each month. Just a few, quick updates from September!:

‍

• New TBRS Immune Research & Remembering Dr. Dan Kennedy
  
  • We have new research made possible by the TBRS community and the 2023 TBRS Summit! 
  • This study explored how changes in DNMT3A can affect the immune system, including how neutrophils respond to infections, and provides new insight into why people with TBRS may be more vulnerable to serious infections. 
  • The paper is dedicated to Dr. Dan Kennedy, whose work and commitment to understanding immune differences in TBRS helped make this research possible. 
    
    • Read the full update and learn more about the study here

‍

• TBRS Patient Priorities & PRISM Roadmap Discussion
  
  • As part of our PCORI project, we’ve been listening to the TBRS community through interviews conducted at the TBRS Summit to better understand the experiences, priorities, and needs of individuals and families. 
    
    • We’re excited to share what we’ve learned and get community feedback during our upcoming TBRS Patient Priorities and PRISM Roadmap: Feedback and Discussion on October 28 at 12 PM EDT. 
    • This live virtual event will be an opportunity to hear about the findings, discuss the PRISM Roadmap, and help shape what comes next. 
  • Register here. 

‍

• Interactive TBRS Gene Variants Graph
  
  • We’ve added a new interactive graph of genetic variants associated with TBRS to the research section of our website! 
  • The graph currently includes more than 140 known DNMT3A variants and allows researchers to explore the location and distribution of variants across the gene. 
    
    • Importantly, the information includes variants identified through both the TBRS Patient Registry and Count Me In for TBRS, helping bring together data collected through these community resources. 
  • This new tool is available as a resource for researchers interested in better understanding the genetic variation associated with TBRS. 
  • Explore the interactive graph here 
    
    • Scroll down to “Gene Variants”

‍

• “We’re Located Everywhere!”: Interactive TBRS Patient Map
  
  • Reminder - we have an interactive map on the family section of the TBRS Community website so families can see just how far our community reaches! 
  • The “We’re Located Everywhere!” map shows the locations of TBRS families around the world who participate in Count Me In for TBRS. 
    
    • Families who join Count Me In have the opportunity to add their pin to the map and connect with others in the TBRS community, including a Regional Coordinator when one is available in their area. 
  • Explore the interactive map 
    
    • Scroll down to “We’re Located Everywhere!”

‍

• Baseball Season Is Almost Over, But Our TBRS Baseball Cards Are Just Getting Started!
  
  • The TBRS Baseball Card (aka the TBRS Trading Card) is a resource with personalized information about a TBRS patient that caregivers can share with clinicians and other support professionals. The idea is to help teach those who work with the TBRS patient more about them and their symptoms.
  • Patients and families can request a personalized card, which can be printed at home!
    
    • This resource is available in English, German, Spanish, Dutch, and Japanese!
    • Click here for more information or to request your own card.

‍

As always, please reach out to me with any questions at kit@tbrsyndrome.org. 

Kit Minor, CARE Manager