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.
