Author name: kit

Hello everyone! I hope you’re having a great week! Here are some TBRS Community updates from this week:

• REMINDER: Opportunities to donate to the Biorepository

• • • With the growing interest in our samples, we will be needing more patient donations soon!
      • The TBRS Biorepository is a collection of patient samples that is readily accessible for research.

• • • Below are the dates for upcoming rare disease conferences where you can donate to the Biorepository:

• • • • September 25-28 – Atlanta, GA
      • September 29 – Kansas City, MO
      • December 5-6 – Los Angeles, CA
    • If you are interested in donating to the TBRS Biorepository at any of these locations, please contact [email protected]. 
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• Ciitizen is now Citizen Health → signing up has never been easier!
  • Exciting News: Citizen Health, formerly Ciitizen, has launched a brand new onboarding experience – and it’s better than ever! 
    • We’ve teamed up with Citizen Health for the easiest way to build vital natural history studies for our community. 
    • REMINDER: Citizen Health is a program that will collect all medical records in one convenient, online location. These records can then be shared with researchers, if you so choose!
  • Help us reach our goal! It just takes five minutes to sign up, completely digital. 
    • Citizen Health is currently only able to collect records for participants in the United States, BUT participants can join around the globe and upload their own documents.
      • Citizen Health is currently running trials to expand to other english-speaking countries, and then plan to extend further!
  • Click here to sign up for Citizen Health!

• Recent paper on symptom differences in TBRS.

• • • Dr. Harrison Gabel, a member of our Scientific and Medical Advisory Committee, published a paper late last year showing that DNMT3A mutations or variants cause different and related symptoms.  
      • This study looked at the P904L and R882H variants in DNMT3A. Both of these variants are present in our community, thought R882H seems to be more common.
      • R882H is also thought to be a dominant negative mutation, meaning not only does it prevent the copy of DNMT3A it is present in from working, but also partially blocks the other, normal copy of DNMT3A from working. 
        • Because of this, many researchers are interested to know if patients with R882H mutations have any TBRS features that are more severe than those with other mutations.  
    • Dr. Gabel’s group found that both variants had symptoms of obesity, bone overgrowth, and behavioral changes similar to autism. However, the R882H variant seemed to cause worsened behavioral changes compared to the P904L variant.
      • They also found that both had reduction of DNA methylation (the mark the DNMT3A protein puts on DNA) in the brain, but R882H has a bigger reduction. 
    • It is still not known whether there is a difference between the severity of different TBRS variants in terms of how patients are affected. 
      • This is why it is so important for all TBRS families to participate in the TBRS Patient Registry and Citizen!
    • You can read the full study here!

• Thanks to our Community – Registry Testing and the Disease Concept Model!

• • • We have a graduate researcher creating a disease concept model for TBRS.
      • A disease concept model is an analysis of all current TBRS literature, and interviews with TBRS families to gather information that has not been reported, to fully describe the disorder. 
      • This is like a precursor to clinical guidelines, and helps get information published that might not be in literature at the moment!

• • • • • Thank you to the volunteers who have been interviewed for the project! Your input will help with creating this resource and guiding clinicians on how to treat patients with TBRS!

• • • We have been working to update our Patient Registry for some time now
      • Some of these changes include using standardized surveys, including Heyn Sproul Jackson Syndrome, and translating the Registry into other languages.
      • We are excited to say that we have moved into the testing phase for these changes!

• • • • • Thank you to the volunteers who have signed up to go through the Registry! With your help, we will have a more comprehensive and accessible Patient Registry platform soon!

Thank you, and I hope you have a great weekend!

Kit Church, CARE Manager