Weekly Research Updates! - November 17, 2023

  • We are updating the TBRS Community website in major ways!
    • We are currently working on a new website that will have two sections – one for families and one for researchers!
    • There will also be a calendar of events, and more updated information on TBRS!
    • I am hoping to have this completed by the end of the year!
  • We are increasing accessibility for disabled individuals to fill out the Patient Priority Survey
    • It now has a new color scheme, is easier to read, and is available in spanish 
    • We are also planning to conduct one on one interviews with diagnosed individuals that are interested in filling out the Patient Priority Survey to help them!
  • NORD registry 2.0 is in development
    • As I mentioned before, we are including all germline DNMT3A variants 
    • We still have a long road ahead of us, adding in standardized surveys and changing this up, but still a work in progress
    • Again, I will make a post when it is complete!
  • Genomics video
    • Some of you participated in a genomics video for Dr. Kate Tatton Browns team to describe your experience with genetic testing and diagnosis of TBRS
    • This is almost completed and was super impactful! Such a beautiful video!
    • Kate Tatton-Brown still needs to give us feedback, but we will share this video when we are able to
  • Webinar with Virginie McNamar about Ciitizen
    • Monday Nov 27, 1-2pm EST
    • Join to learn more about this tool and what it can offer to TBRS Families.
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