Blog – Page 13 – TBRS Community

Weekly Research Updates! – December 8, 2023

American Epilepsy Society Conference
- Kit attended
- I learned more about epilepsy and seizure research currently going on
- I also met with researchers and rare disease advocates interested in our disorder
Research Roundtable 3
- This event happened earlier today (December 8)
- We had about 16 attendees
- Here, we announced grant for translational science based on Patient Priority Survey
- We also developed the beginnings of working groups
  - 1 group for patient-facing (like diagnostic and surveillance guidelines), 1 group for harder science
Overgrowth Syndrome Alliance (OSA) paper collaboration on seizures
- We are working on submitting a paper for a Rare Epilepsy Special Collection on seizures and epilepsy in Overgrowth intellectual disability disorders
- We are using anecdotal data and registry data
We’re creating more iPSCs (research tools)
- IPSCs are a tool for research, like mice but they are human cells
- We sent out a survey to the Research community on which lines would be most helpful

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.

Reimbursements for the Summit are all out
- One left, but unless I have contacted you, all of the reimbursements are out.
- Please let me know if there are any issues
A couple more genetic reports needed for CB and the Baylor study
- I have contacted you and will continue to be annoying (sorry!)
Changes to registry – including ALL DNMT3A variants
- There will be changes to the surveys – standardized surveys
- Old information will be kept! That is not lost information!
- Once the new surveys are launched, we will let you all know
- Please do updates with these once they are launched!
Patient Priority Survey – now in Spanish
EEG repository
- Getting some ideas and brainstorming
- Ideas for Google drive, vs at academic institutions, etc.
- Let me know if you have any thoughts or opinions on this
Ciitizen
- Normally just United States
- International can sign up and upload their own docs
- Launching Canada and Australia soon
American Epilepsy Society – 2023 Conference

Collaborations – many ideas, inspired by meeting all of you, reaching out to us and other researchers, reenergized, testament to family involvement and engagement with research community
Joined the Rare Epilepsy Network
- Free for us to join
- 25-50% of TBRS patients have experienced at least one seizure
- Policy work, resources for epilepsy, shared learning
Combined Brain
- Know about missing samples, boxers, etc
- Getting variants from me
- Working on getting those out
RR3 – Dec 8 – emphasis on working groups
- Also announcing 2 research grants for $50k, focus on biomarkers
- Explanation of biomarkers
Looking into biomarkers and endpoints in other disorders to find possibilities for our disorder

Ciitizen
- We have officially launched!
- Link: https://www.ciitizen.com/rarenetwork/?utm_source=TBRS+Community&utm_medium=Advocacy&utm_campaign=Recruitment&utm_content=RPN
Patient Registry 2.0 – info on changes being made to the Registry
- we are planning to include other DNMT3A variants
- We are also getting feedback from those who have gone thru the Registry data to figure out what changes would be helpful for researchers!
Regional Coordinators program and Patient Advisory Committee
- Please message me if you are interested in any of these opportunities ([email protected])
We are looking for cardiac and psychiatric specialists to join our Collaborative Research Network
Social media posts about research coming (like talking to researchers and recording those questions)
We are meeting with COMBINEDBrain to get information on all of the TBRS samples available in the Biorepository
Research Roundtable 3 will be happening soon!
- We will provide updates on this as they come!

Thanks everyone!

Kit Church, Research Coordinator