Hello all! I am excited to welcome you to the new TBRS Community blog, which will be the location of our Weekly Research Updates from now on! Last week, I conducted a poll in the TBRS Community private Facebook page, and the response was overwhelmingly clear – that most patients and families would prefer to read about research updates in a blog format, rather than watch a Facebook live on the subject every week. The summaries from previous research update videos will also be posted to this blog. If there is one that you have missed, please feel free to go back to previous posts. 

Here are my updates for this week:

• New Family Welcome Packet
  • We are currently working on a welcome packet that will be given to new families that join our community.
  • This packet will include a checklist, information on TBRS, the community, volunteering, and research opportunities.
  • Current families may also receive this packet, to make sure no information is missed. 
  • I will update you when this packet is complete. 
• Biorepository donations
  • REMINDER: A biorepository is a collection of patient samples that can be used for research. Having these samples all in one place makes research with patient samples faster. This also reduces the burden on families to regularly donate patient samples – We can split samples easily at the biorepository to make sample use more efficient!  
    • We collected over 40 patient and sibling samples at the TBRS Summit. Thank you!
  • We are now catching up on collections for families who could not attend The Summit but still want to donate. If you have already applied to donate to the biorepository and have not heard back, please reach out to me at [email protected]
  • If you would like to donate to the Biorepository, please fill out this form. 
    • REMINDER: Currently we can only accept donations from within the United States. However, if you are in a different country and planning a trip to the US, please reach out! 
  • RESEARCHERS: Click here to apply for Biorepository samples.
• TBRS Patient Registry
  • REMINDER: The TBRS Patient Registry is a collection of data from patients and families on TBRS. This registry provides valuable data to researchers to help them further understand TBRS. Researchers also use this data to answer important questions on health and treatment development for our community. 
    • Dr. Kate Tatton-Brown has mentioned that the Registry holds a lot of valuable data, and is currently working on analyzing it for publishing.
      • This will help with the creation of management guidelines. 
  • We are still making changes to the Patient Registry to make our data more powerful for researchers. We are also trying to reduce the length of surveys to make them easier for participants. 
    • We will be including all DNMT3A variants 
      • Those that cause TBRS, Heyn Sproul Jackson Syndrome (a similar syndrome with undergrowth), and other DNMT3A variants
    • We will also be including the Aberrant Behavioral Checklist, a Seizure survey, and a disautonomia survey.
      • If you have questions about this, please reach out!
  • As we are working through this change, I would love to hear from you! 
    • If you have suggestions, please message me on Facebook or email me at [email protected].
    • If you have any questions about how common symptoms are, please reach out as well! 
    • If you would like to participate in the registry, here is the link. 
  • RESEARCHERS: Click here to apply for TBRS Patient Registry data.

Those are all of the updates from me this week. As always, if you have any questions, please Facebook message me or email me at [email protected]. 

Thanks!

Kit Church, Research Coordinator