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Weekly Updates! – April 18, 2025

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Weekly Updates! - April 18, 2025

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

  • NEW Upcoming: Special Presentation – TBRS Disease Impact 
      • This event will take place Wednesday, May 7, 2025 at 4:30 PM Eastern Time via Zoom
      • 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.
  • Upcoming: TBRS Friends and Family Support Group – April 26, 2025
      • This event will take place Sunday, April 26, 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.
  • REMINDER: We’ve launched the TBRS and DNMT3A Registry (2.0)!
      • We have been working to update our Patient Registry for some time now, and are excited to announce that the TBRS and DNMT3A Patient Registry has officially launched!
        • 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.
      • Steps to participate in the updated Registry are below:
        • IF YOU PARTICIPATED IN THE REGISTRY IN THE PAST: 
          • You should have received an email from [email protected] with instructions to continue with the new Registry. 
        • IF YOU HAVEN’T PARTICIPATED BUT WANT TO NOW:
      • Please email me with any questions! [email protected]
  • THANK YOU to our TBRS Challenge participants!
    • We have officially launched the 2025 TBRS Exercise Challenge! 
      • Through this challenge, individuals with TBRS commit to a daily exercise of their choice in exchange for pledges and donations to the TBRS Community. This presents an exciting fundraising opportunity while encouraging healthy practices for individuals with TBRS.
    • Thank you to all of the superstars participating in the Challenge this year! It’s amazing to see what you can do!
    • To support, visit the TBRS Exercise Challenge website.
      • All of the funds raised go to improving the Patient Registry and making data more easily accessible for research!
      • If you have any questions or need help, please contact me at [email protected].

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

Kit Church, CARE Manager

Weekly Updates! – April 18, 2025 Read More »

Weekly Updates! – April 11, 2025

Blog /

Weekly Updates! - April 11, 2025

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

  • Summary from an Overgrowth Syndromes Alliance (OSA) scientific meeting last week! 
      • 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).
      • On friday evening, 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. 
        • We had 36 researchers, clinicians, and collaborative research network members register for this exciting event.
        • Dr. Mike Piper presented on methods of modeling neurodevelopmental disorders in animals and cells, with a particular focus on Malan Syndrome.
          • His work has focused on many neurodevelopmental disorders, including autism, microcephaly and macrocephaly.
          • Following the presentation was a conversation on methods across OGID syndromes and collaborative ideas.
        • We also had a short presentation on the patient perspective from a Malan Syndrome mom, Sky Collins!
  • REMINDER: We’ve launched the TBRS and DNMT3A Registry (2.0)!
      • We have been working to update our Patient Registry for some time now, and are excited to announce that the TBRS and DNMT3A Patient Registry has officially launched!
        • 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.
      • Steps to participate in the updated Registry are below:
        • IF YOU PARTICIPATED IN THE REGISTRY IN THE PAST: 
          • You should have received an email from [email protected] with instructions to continue with the new Registry. 
        • IF YOU HAVEN’T PARTICIPATED BUT WANT TO NOW:
      • Please email me with any questions! [email protected]
  • THANK YOU to our TBRS Challenge participants!
    • We have officially launched the 2025 TBRS Exercise Challenge! 
      • Through this challenge, individuals with TBRS commit to a daily exercise of their choice in exchange for pledges and donations to the TBRS Community. This presents an exciting fundraising opportunity while encouraging healthy practices for individuals with TBRS.
    • Thank you to all of the superstars participating in the Challenge this year! It’s amazing to see what you can do!
    • To support, visit the TBRS Exercise Challenge website.
      • All of the funds raised go to improving the Patient Registry and making data more easily accessible for research!
      • If you have any questions or need help, please contact me at [email protected].

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

Kit Church, CARE Manager

Weekly Updates! – April 11, 2025 Read More »

Evan’s Rainbow Warriors: A Bowling Tournament with Big Impact

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Check out the event or donate today!

At the TBRS Community, we often say that families are the heart of our mission. But sometimes, it’s the extended family who remind us just how powerful that heart can be. Meet Evan—a cousin to Olivia, a longtime supporter, and now a first-time event organizer. This year, Evan launched the Rainbow Warriors Bowling Tournament for TBRS, and we couldn’t be more proud to celebrate him and his incredible commitment.

Evan has been part of our journey for years, showing up, spreading awareness, and cheering us on. But in 2025, he decided to take it one step further by creating a fundraiser of his own. The Rainbow Warriors Bowling Tournament is not only a fun way to gather with friends and family—it’s a heartfelt tribute to his cousin Olivia and the entire TBRS Community. Proceeds from the event will go directly toward funding research, clinical care, and support programs that benefit individuals and families living with TBRS.

Events like Evan’s are vital. In fact, nearly half of the TBRS Community’s annual revenue comes from family-led fundraisers—proof that when people come together in love and purpose, real change happens. Whether it’s a karaoke night, a fun run, a trivia tournament, or a bowling party, these efforts build momentum for our mission in unforgettable ways.

We hope Evan’s story inspires you to think about how you might want to contribute. Hosting a fundraiser doesn’t have to be complicated—it just has to come from the heart.

Want to join Evan and become a Rainbow Warrior for TBRS?
 Click the button above to check out the event or donate today! 

To Evan: thank you for turning love into action. To everyone reading: we’d love to help you do the same. Let’s keep making memories—and making a difference. Contact Jill at [email protected] to get involved

Evan’s Rainbow Warriors: A Bowling Tournament with Big Impact Read More »

Big Rhyds’ TBRS Fundraiser in Wales – An International Effort for TBRS

News /

At the heart of the TBRS Community is a network of passionate, dedicated families who go above and beyond to make a difference—and the Williams Family is a shining example. We are proud to spotlight Big Rhyds’ TBRS Fundraiser in Wales, a joyful and heartfelt event that brings people together to raise money and awareness for Tatton Brown Rahman Syndrome (TBRS).

This special night will feature a show-stopping performance by Tom Davies, widely regarded as the best Michael Bublé tribute act in Wales. With bingo (at Rhydian’s enthusiastic request!) and a raffle full of amazing prizes, the event promises to be filled with laughter, connection, and purpose. Every penny raised will go toward research, education, and support initiatives that help individuals and families affected by TBRS.

Fundraisers like this are more than just events—they’re acts of love, community, and hope. The TBRS Community simply could not do the work we do without this kind of grassroots dedication. These gatherings are how we keep our momentum going—supporting science, improving care, and celebrating life along the way.

We’re incredibly grateful to Joanne, Ian, Rhydian, and Elian for dreaming up this night and making it happen. Their generosity and drive remind us that every great memory made at a family fundraiser also pushes our mission forward.

To the Williams Family—thank you. And to all who support them—thank you for being part of this international effort to improve the lives of people with TBRS.

Together, we’re making memories and making a difference.

Do you have an idea for a family fundraiser? We can help. Contact [email protected]

Big Rhyds’ TBRS Fundraiser in Wales – An International Effort for TBRS Read More »

Updated TBRS and DNMT3A Patient Registry has Launched!

News /

The Tatton Brown Rahman Syndrome (TBRS) and DNMT3A Patient Registry has undergone a major transformation, bringing new features that will enhance its impact and accessibility. This registry is more than just a data collection system—it is an interactive, participant-driven resource designed to empower individuals affected by TBRS, Heyn Sproul Jackson Syndrome (HESJAS), and DNMT3A-related disorders. Some of the key updates include the use of standardized surveys to improve data quality and the addition of Heyn Sproul Jackson Syndrome to expand the registry’s scope. We also have new translations in progress to ensure accessibility for participants worldwide. With these improvements, we are creating a more inclusive and comprehensive resource that will better serve the community and researchers alike.

By participating in the Patient Registry, individuals and families contribute directly to the advancement of research, helping scientists and clinicians uncover critical insights into DNMT3A-related conditions. The data collected can support the development of new diagnostic tools, guide treatment options, and improve clinical care for those affected. Every participant strengthens our understanding of these conditions, helping researchers identify patterns, potential therapeutic targets, and long-term health outcomes. Simply put, the registry gives a voice to those with TBRS, HESJAS, and DNMT3A variants, ensuring that patient experiences drive scientific discovery.

We are excited to announce that the updated DNMT3A and TBRS Patient Registry has arrived! This milestone would not be possible without the dedication of our volunteers and the TBRS Community members who have helped guide the migration to this improved platform. Your participation and support are key to making this registry as impactful as possible. Together, we can drive progress, improve care, and bring hope to those affected by TBRS, HESJAS, and DNMT3A-related disorders.

Get Involved!

New Participants: Click here to participate in the patient registry.

Former Participants: Look out for an email from [email protected] to migrate your old account to the new platform!

Updated TBRS and DNMT3A Patient Registry has Launched! Read More »

Weekly Updates! – April 4, 2025

Blog /

Weekly Updates! - April 4, 2025

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

  • Launching the TBRS and DNMT3A Registry (2.0)!
      • We have been working to update our Patient Registry for some time now, and are excited to announce that the TBRS and DNMT3A Patient Registry has officially launched!
        • 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.
      • Steps to participate in the updated Registry are below:
        • IF YOU PARTICIPATED IN THE REGISTRY IN THE PAST: 
          • You should have received an email from [email protected] with instructions to continue with the new Registry. 
        • IF YOU HAVEN’T PARTICIPATED BUT WANT TO NOW:
      • Please email me with any questions! [email protected]
  • THANK YOU to our TBRS Challenge participants!
      • We have officially launched the 2025 TBRS Exercise Challenge! 
        • Through this challenge, individuals with TBRS commit to a daily exercise of their choice in exchange for pledges and donations to the TBRS Community. This presents an exciting fundraising opportunity while encouraging healthy practices for individuals with TBRS.
      • Thank you to all of the superstars participating in the Challenge this year! It’s amazing to see what you can do!
      • To support, visit the TBRS Exercise Challenge website.
        • All of the funds raised go to improving the Patient Registry and making data more easily accessible for research!
        • If you have any questions or need help, please contact me at [email protected].
  • Upcoming: TBRS Friends and Family Support Group – April 26, 2025
    • This event will take place Sunday, April 26, 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. 

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

Kit Church, CARE Manager

Weekly Updates! – April 4, 2025 Read More »

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