Weekly Updates! - July 19, 2024
Hello everyone! I hope you’re having a great week! Here are some TBRS Community updates from this week:
- Creating a map of TBRS patient and family locations!
- I have been working on a map that shows the general locations of TBRS patients and families, to show how our patients are globally spread and help others to see who might be in their area.
- This map is different from the previous Facebook map. This map will be published on the website without names or specific addresses.
- If you are interested in being included on this map, please consider completing our contact registry, Count Me In for TBRS!
- Here is the full map!
- Recent paper suggests a new potential therapy for TBRS.
- Dr. Timothy Ley, a member of our Scientific and Medical Advisory Committee, recently published a paper showing that expressing the DNMT3L protein could rescue some of the deficits occurring in bone marrow cells of mice that have the common DNMT3A R882H mutation.
- DNMT3L is a protein that is related to DNMT3A. It acts as a “chaperone”, which means it helps DNMT3A to do its job in early development.
- Dr. Ley’s group found that adding back the DNMT3L gene in bone marrow cells of mice with an R882H mutation for 2 weeks corrected the DNA methylation defect almost completely, and made the marrow cells look and act much more like cells of normal mice.
- The TBRS community staff and research network are very interested in what these findings may mean for TBRS patients!
- These things take time, but it is encouraging to see progress and potential!
- You can read the full study here!
- Dr. Timothy Ley, a member of our Scientific and Medical Advisory Committee, recently published a paper showing that expressing the DNMT3L protein could rescue some of the deficits occurring in bone marrow cells of mice that have the common DNMT3A R882H mutation.
- New Family Welcome Packet – Looking for Translations!
- The TBRS Community New Family Welcome Packet is a resource that details all of the programs and research opportunities available to TBRS Community families.
- We know our global community would benefit from translations of this resource, and others.
- Currently, the New Family Welcome Packet is translated into Spanish
- We also have our intern, Kaho, translating this resource into Japanese, which will be available soon.
- If you are available to translate this resource into other languages, please consider volunteering! This would greatly benefit members of our community who speak other languages!
- Click here to read the full news story and download the New Family Welcome Packet!
- Position Update: Community and Research Engagement (CARE) Manager
- I am excited to announce that I have had a recent position change – I am now the Community and Research Engagement (CARE) Manager for the TBRS Community!
- This position encompasses all that my role has evolved into, including managing communications, identifying gaps in support for the community, and creating resources to educate on research involvement, on the family and researcher sides!
- If you have any suggestions for programs that you would like to see, please reach out at [email protected]
- Thanks to all of you, I love working with the Community and looking forward to serving in this new capacity!
- REMINDER: 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!
- 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.
- Click here to sign up for Citizen Health!
- Exciting News: Citizen Health, formerly Ciitizen, has launched a brand new onboarding experience – and it’s better than ever!
Thank you, and I hope you have a great weekend!
Kit Church, Research Coordinator
