Blog

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:
        • Click the following link to create your account: https://tbrsregistry.iamrare.org/
    • 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