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Weekly Updates! – June 13, 2025

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Weekly Updates! - June 13, 2025

Hello. I hope everyone has had a great week. I have just a few updates this week:

  • Upcoming: TBRS Friends and Family Support Group – June 21, 2025
    • This event will take place Saturday, June 21, 2025 at 2:00 PM Eastern Time via Zoom
    • The TBRS Community offers a monthly Friends and Family Support Group via Zoom. Families from all around the world can participate. We create a safe place to share thoughts, feelings, concerns, and emotions without judgment. The meeting seems to take a different shape every time we gather—sometimes we focus on sharing resources or experiences, but we always seek to make everyone feel comfortable and supported. 
    • Any parents or caregivers of someone diagnosed with TBRS are welcome.
  • Recap: Special Talk on Hematology & Oncology in TBRS – with Dr. Rachel Rau 
    • On Monday, we had a great presentation from Dr. Rachel Rau, where she discussed hematology and oncology considerations for individuals with Tatton Brown Rahman Syndrome (TBRS). 
    • This presentation was a valuable opportunity for families and patients to learn from an expert in the field and better understand the latest insights related to blood and cancer-related health concerns in TBRS.

Thanks! Please reach out to me with any questions at [email protected]. Happy weekend!

Kit Church, CARE Manager

Weekly Updates! – June 13, 2025 Read More »

Weekly Updates! – June 6, 2025

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Weekly Updates! - June 6, 2025

Hello. I hope everyone has had a great week. I have a few updates I’d like to share:

  •  
  • NEXT MONDAY: Join Us for a Special Talk on Hematology & Oncology in TBRS – with Dr. Rachel Rau 
    • We’re excited to welcome Dr. Rachel Rau for a special presentation on June 9 at 5 PM EST, where she’ll discuss hematology and oncology considerations for individuals with Tatton Brown Rahman Syndrome (TBRS). 
    • This session is a valuable opportunity for families and patients to learn from an expert in the field and better understand the latest insights related to blood and cancer-related health concerns in TBRS.
      • Don’t miss this chance to ask questions and stay informed—register here and join us live!  
      • If you are unable to attend, please sign up – a recording will be sent to families who are unable to attend!
  • RECAP: CZI Science in Society Meeting
      • Last week, Jill and I attended the Science in Society meeting hosted by the Chan Zuckerberg Initiative (CZI)!
        • This conference brought together researchers, funders, and advocates from across rare disease and research communities to talk about how we can make science more impactful and inclusive.
      • A major focus was on cross-disease collaborations—just like the Overgrowth Syndromes Alliance and COMBINEDBrain. These partnerships allow rare disease groups to work together to speed up discoveries that help all of us.
      • There was also a big emphasis on improving medical awareness, expanding mental health care resources, and building stronger tools to support patient-partnered research.
        • We’re proud that the TBRS Community is already doing many of these things—and we’re always learning new ways to grow our impact!
  • Collaborative Meetings with the RTW Foundation
    • The RTW Foundation has been helping advise us behind the scenes for some time—offering expert scientific insight to make sure our research strategy is as strong and impactful as possible.
      • In the coming weeks, we’ll begin a round of meetings with the RTW Foundation and members of our TBRS research network!
      • These new meetings will bring our researchers and the Foundation together to discuss progress, identify gaps, and prioritize what comes next.
    • We’re excited to continue building a thoughtful, patient-driven research agenda—one that helps accelerate discoveries and improves care for everyone in the TBRS Community.
      • We’ll be sure to share updates and insights from these meetings along the way!

Thanks! Please reach out to me with any questions at [email protected]. Happy weekend!

Kit Church, CARE Manager

Weekly Updates! – June 6, 2025 Read More »

Weekly Updates! – May 23, 2025

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Weekly Updates! - May 23, 2025

Hello. I hope everyone has had a great week. I have a few updates I’d like to share:

  • Recap: Gene Therapy Considerations in TBRS presentation
      • Earlier this morning (Friday, May 23), Dr. Harrison Gabel presented on the latest advancements in TBRS gene therapy research!
        • Following a groundbreaking article on an individualized gene therapy that saved a child with a rare disease, we received a lot of questions about the potential of gene therapy for Tatton Brown Rahman Syndrome (TBRS). 
        • To help answer these questions, we asked Dr. Harrison Gabel for an update on his preclinical work toward gene therapy in TBRS.
        • There was a great turn out, with over 59 live attendees!
      • Dr. Gabel’s presentation provided great scientific information into where gene therapy treatment for TBRS stands. 
        • If you missed this presentation, the recording can be found on the TBRS Community private Facebook page
  • Join Us for a Special Talk on Hematology & Oncology in TBRS – with Dr. Rachel Rau 
    • We’re excited to welcome Dr. Rachel Rau for a special presentation on June 9 at 5 PM EST, where she’ll discuss hematology and oncology considerations for individuals with Tatton Brown Rahman Syndrome (TBRS). 
    • This session is a valuable opportunity for families and patients to learn from an expert in the field and better understand the latest insights related to blood and cancer-related health concerns in TBRS.
      • Don’t miss this chance to ask questions and stay informed—register here and join us live!  
      • If you are unable to attend, please sign up – a recording will be sent to families who are unable to attend!
  • SAVE THE DATE: 2026 TBRS Summit 
    • The TBRS Summit is planned for early 2026!
      • WHEN: Weekend of March 21, 2026
      • WHERE: Morgan’s Wonderland Camp in San Antonio, TX, USA
    • The TBRS Summit is where the magic happens—families, researchers, and clinicians come together to connect, learn, and push forward the future of TBRS care and research.
    • Stay tuned for more details, including registration and agenda updates!

Thanks! Please reach out to me with any questions at [email protected]. Jill and I will be at a conference next week, but I’ll have more updates on Friday, June 6. Happy weekend!

Kit Church, CARE Manager

Weekly Updates! – May 23, 2025 Read More »

Weekly Updates! – May 16, 2025

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Weekly Updates! - May 16, 2025

Hello. I hope everyone has had a great week. I’d also like to thank everyone for the birthday wishes this week – I feel so appreciated by this community and thank you for letting me be a part of it! 🙂

I have a few updates to share to share this week:

  • Cardiologist meeting this week – and our push for cardiac guidelines
      • Its been shown that TBRS patients have a higher incidence of heart conditions like aortic root dilation and atrial septal defect, to name a few.
        • However, we have had trouble identifying researchers and clinicians in the cardiac field to help create clinical guidelines for our condition with regards to the heart.
      • This week, Jill and I met with a cardiologist who specializes in aortic root dilation, and recognizes the need for cardiac guidelines in our community!
        • We are hoping to see this relationship progress and to have more clinically actionable recommendations as a result!
      • For information on our current recommendations, click here.
  • Join Us for a Special Talk on Hematology & Oncology in TBRS – with Dr. Rachel Rau 
    • We’re excited to welcome Dr. Rachel Rau for a special presentation on June 9 at 5 PM EST, where she’ll discuss hematology and oncology considerations for individuals with Tatton Brown Rahman Syndrome (TBRS). 
    • This session is a valuable opportunity for families and patients to learn from an expert in the field and better understand the latest insights related to blood and cancer-related health concerns in TBRS.
      • Don’t miss this chance to ask questions and stay informed—register here and join us live!  
      • If you are unable to attend, please sign up – a recording will be sent to families who are unable to attend!
  • Reminder about an important resource: The TBRS Baseball Card!
      • 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.
  • SAVE THE DATE: 2026 TBRS Summit 
    • The TBRS Summit is planned for early 2026!
      • WHEN: Weekend of March 21, 2026
      • WHERE: Morgan’s Wonderland Camp in San Antonio, TX, USA
    • The TBRS Summit is where the magic happens—families, researchers, and clinicians come together to connect, learn, and push forward the future of TBRS care and research.
    • Stay tuned for more details, including registration and agenda updates!

 

Thanks! Please reach out to me with any questions at [email protected]. Happy weekend!

Kit Church, CARE Manager

Weekly Updates! – May 16, 2025 Read More »

Weekly Updates! – May 9, 2025

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Weekly Updates! - May 9, 2025

Hello. I hope everyone has had a great week. I have a few updates to share:

  • Recap: TBRS Disease Impact presentation
      • On Wednesday, May 7, Mylie, a graduate student in Genetic Counseling who recently completed a Disease Concept Model for Tatton Brown Rahman Syndrome (TBRS), presented her findings to the TBRS Community!
        • There was a great turn out, with over 40 families registered for live attendance!
      • This presentation highlighted the real-life impacts of TBRS on individuals and families, as captured through interviews and research. 
        • If you missed this presentation, the recording can be found on the TBRS Community private Facebook page
        • Please do not share this video publicly. Researchers are typically hesitant to share unpublished data, so we ask that this information not be published publicly to encourage researchers to continue to trust our families and share back data with us.
  • SAVE THE DATE: 2026 TBRS Summit 
    • The TBRS Summit is planned for early 2026!
      • WHEN: Weekend of March 21, 2026
      • WHERE: Morgan’s Wonderland Camp in San Antonio, TX, USA
    • The TBRS Summit is where the magic happens—families, researchers, and clinicians come together to connect, learn, and push forward the future of TBRS care and research.
      • Stay tuned for more details, including registration and agenda updates!

Thanks! Please reach out to me with any questions at [email protected]. Happy weekend!

Kit Church, CARE Manager

Weekly Updates! – May 9, 2025 Read More »

Weekly Updates! – May 2, 2025

Blog /

Weekly Updates! - May 2, 2025

Hello. I hope everyone has had a great week. I have a few updates to share:

  •  Upcoming: Special Presentation – TBRS Disease Impact 
    • This event will take place Wednesday, May 7, 2025 at 4:30 PM Eastern Time via Zoom
    • Here is the link to register: https://givebutter.com/TBRSdcm 
      • We’re excited to share that Mylie, a graduate student in Genetic Counseling who recently completed a Disease Concept Model for Tatton Brown Rahman Syndrome (TBRS), will be presenting her findings to the TBRS Community!
      • This presentation will highlight the real-life impacts of TBRS on individuals and families, as captured through interviews and research. It’s a chance to hear how your stories and experiences are helping shape the understanding of TBRS in the research and medical world.
        • We hope you’ll join us for this important conversation! If you are unable to attend, please sign up anyway! We will share a recording with those who are unable to attend live. 
    •  SAVE THE DATE: 2026 TBRS Summit 
      • The TBRS Summit is planned for early 2026!
        • WHEN: Weekend of March 21, 2026
        • WHERE: Morgan’s Wonderland Camp in San Antonio, TX, USA
      •  The TBRS Summit is where the magic happens—families, researchers, and clinicians come together to connect, learn, and push forward the future of TBRS care and research.
      • Stay tuned for more details, including registration and agenda updates!

Thanks! Please reach out to me with any questions at [email protected].

Kit Church, CARE Manager

Weekly Updates! – May 2, 2025 Read More »

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