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Weekly Research Updates! – February 2, 2024

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Weekly Research Updates! - February 2, 2024

Hello all! Hope it’s been a good week so far. Here are my updates from this week:

  • EVENT: Regional Coordinator intro meeting
    • Regional Coordinators are volunteers located across the globe who are responsible for sharing TBRS Community programming and research information with their region, planning events for the area, and ensuring that all TBRS families are receiving the support they need.
    • The Regional Coordinator introductory meeting has been scheduled for Monday, February 5, from 3-4pm EST.
    • If you are interested in becoming a Regional Coordinator, or if you are undecided but have questions, please join us! Register here.
  • CRN Working groups
    • The TBRS Community is starting a working group among members of our Collaborative Research Network. 
      • Working groups bring together scientists, researchers, and clinicians to work on specific issues and goals.
    • This working group will be focused on developing diagnostic criteria and clinical guidelines for TBRS.
      • Creation of these materials is a high priority for the TBRS Community to ensure that patients are being properly diagnosed and receiving the care they need. 
      • We hope this will also help to classify variants of uncertain significance!
    • This group will meet every other month for 1 hour to work on this project. I will provide more information on this after our first meeting!
      • RESEARCHERS/CLINICIANS: if you are interested in joining the working group, email me at [email protected]
  • The next TBRS Community Newsletter
    • This newsletter will feature information on this blog, as well as some of our successes from 2023
    • Coming soon–Look out for it in your email!
  • TBRS Translation Accelerator Grant
    • REMINDER: The TBRS Community is currently offering two $50,000 grants, which will be awarded to support and accelerate therapeutic development for Tatton Brown Rahman Syndrome. 
      • The deadline for these applications was yesterday, February 1, 2024 at 11:59 EST. 
      • We’ve received some great submissions! I am excited to share the winning submissions with you soon!
    • Click here to view the full grant announcement and application process.

Have a great weekend!

Kit Church, Research Coordinator

Weekly Research Updates! – February 2, 2024 Read More »

Weekly Research Updates! – January 26, 2024

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Weekly Research Updates! - January 26, 2024

Hello all! Hope you’ve had a good week so far. Here are my updates from this week:

    • New Family Welcome Packet
      • We are currently working on a welcome packet that will be given to new families that join our community, as well as current families. 
      • We have a nice draft finished and are working on some minor edits and additions. It should be out fairly soon!
    • Development Director
      • The TBRS Community is hiring a Development Director!
      • This Development Director would be responsible for creating a strategic development plan for the organization, advancing donor communications and outreach, assisting with grant prospection, and diversifying funding sources and streams to support the TBRS Community’s programs and missions. 
    • TBRS Translation Accelerator Grant
      • The TBRS Community is currently offering two $50,000 grants, which will be awarded to support and accelerate therapeutic development for Tatton Brown Rahman Syndrome. 
        • The deadline for these applications is February 1, 2024 at 11:59 EST. 
      • We’ve recently gotten some questions and feedback about grant ideas from some members of our Collaborative Research Network
        • I am excited to share the winners of the Grant with you – look forward to this in mid- to late-February!
      • Click here to view the full grant announcement and application process.
    • TBRS Patient Registry
  • REMINDER: The TBRS Patient Registry is a collection of data from patients and families on TBRS. This registry provides valuable data to researchers to help them further understand TBRS. Researchers also use this data to answer important questions on health and treatment development for our community. 
    • I’ve been asked by a few families this week how common symptoms are in TBRS. I would like to remind everyone that this is an option if you have any questions about registry data!
      • If you have any questions about how common symptoms are, please reach out as well! 
      • If you would like to participate in the registry, here is the link. 
    • RESEARCHERS: Click here to apply for TBRS Patient Registry data.

Have a great weekend!

Kit Church, Research Coordinator

Weekly Research Updates! – January 26, 2024 Read More »

Weekly Research Updates! – January 19, 2024

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Weekly Research Updates! - January 19, 2024

Hello all! I am excited to welcome you to the new TBRS Community blog, which will be the location of our Weekly Research Updates from now on! Last week, I conducted a poll in the TBRS Community private Facebook page, and the response was overwhelmingly clear – that most patients and families would prefer to read about research updates in a blog format, rather than watch a Facebook live on the subject every week. The summaries from previous research update videos will also be posted to this blog. If there is one that you have missed, please feel free to go back to previous posts. 

Here are my updates for this week:

  • New Family Welcome Packet
    • We are currently working on a welcome packet that will be given to new families that join our community.
    • This packet will include a checklist, information on TBRS, the community, volunteering, and research opportunities.
    • Current families may also receive this packet, to make sure no information is missed. 
    • I will update you when this packet is complete. 
  • Biorepository donations
    • REMINDER: A biorepository is a collection of patient samples that can be used for research. Having these samples all in one place makes research with patient samples faster. This also reduces the burden on families to regularly donate patient samples – We can split samples easily at the biorepository to make sample use more efficient!  
      • We collected over 40 patient and sibling samples at the TBRS Summit. Thank you!
    • We are now catching up on collections for families who could not attend The Summit but still want to donate. If you have already applied to donate to the biorepository and have not heard back, please reach out to me at [email protected]
    • If you would like to donate to the Biorepository, please fill out this form. 
      • REMINDER: Currently we can only accept donations from within the United States. However, if you are in a different country and planning a trip to the US, please reach out! 
    • RESEARCHERS: Click here to apply for Biorepository samples.
  • TBRS Patient Registry
    • REMINDER: The TBRS Patient Registry is a collection of data from patients and families on TBRS. This registry provides valuable data to researchers to help them further understand TBRS. Researchers also use this data to answer important questions on health and treatment development for our community. 
      • Dr. Kate Tatton-Brown has mentioned that the Registry holds a lot of valuable data, and is currently working on analyzing it for publishing.
        • This will help with the creation of management guidelines. 
    • We are still making changes to the Patient Registry to make our data more powerful for researchers. We are also trying to reduce the length of surveys to make them easier for participants. 
      • We will be including all DNMT3A variants 
        • Those that cause TBRS, Heyn Sproul Jackson Syndrome (a similar syndrome with undergrowth), and other DNMT3A variants
      • We will also be including the Aberrant Behavioral Checklist, a Seizure survey, and a disautonomia survey.
        • If you have questions about this, please reach out!
    • As we are working through this change, I would love to hear from you! 
    • RESEARCHERS: Click here to apply for TBRS Patient Registry data.

Those are all of the updates from me this week. As always, if you have any questions, please Facebook message me or email me at [email protected]. 

Thanks!

Kit Church, Research Coordinator

Weekly Research Updates! – January 19, 2024 Read More »

Weekly Research Updates! – January 5, 2024

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Weekly Research Updates! - January 5, 2024

  • I am doing more writing for the new website
    • We are going through edits now, but I am looking forward to launching soon
  • EVENT: Special needs estate planning session – follow up coaching
    • this Monday, Jan 8, 4-5pm EST
    • Sign up here: https://givebutter.com/groupcoaching
  • EVENT: Regional Coordinator program
    • First meeting TBD
    • Sign up here: https://givebutter.com/wEVOe2
  • We are looking into grants for the Overgrowth Syndrome Alliance (OSA)
  • I am looking into bone issues in TBRS today using the registry data
    • If you have any questions about symptoms in TBRS or what is in the registry, post on Facebook or email me! [email protected]
  • I will be reaching out to biorepository participants in the registry to talk about linking their biorepository sample to their Registry data with the Clinical Research ID

Weekly Research Updates! – January 5, 2024 Read More »

Weekly Research Updates! – December 22, 2023

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Weekly Research Updates! - December 22, 2023

  • We’re currently looking into DNMT3A variants that don’t have TBRS or HESJAS.
    • DNMT3A variants cause Tatton Brown Rahman Syndrome and Heyn Sproul Jackson Syndrome, but we believe there are variants that might cause other symptoms (like a spectrum)
  • We’ll be participating in some COMBINEDBrain and Biorepository studies
    • There are a few metabolism and protein studies that we are looking to do with COMBINEDBrain! I will have more information on this in the future, but it will not require anything on your part!
  • We’ve had more meetings for collaborations in research!
  • Our team has finished our draft for the Overgrowth Syndrome Alliance (OSA) paper, now we have reviewers looking over it before we submit
  • More editing to the TBRS website, which I hope to have launched in early 2024.

Weekly Research Updates! – December 22, 2023 Read More »

Weekly Research Updates! – December 15, 2023

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Weekly Research Updates! - December 15, 2023

  • Using the Clinical Research ID (CRID) to connect Registry data and Biorepository samples
    • Doing this makes the data stronger for research! 
    • If you donated at the Summit, consider adding the CRID to the Registry
    • Email me at [email protected] with questions
  • Regional Coordinators program
  • I am continuing to make updates to the registry prior to launching 2.0!
    • We will be including all DNMT3A variants, not just those that cause TBRS.
    • We are prioritizing standardized surveys for your priorities; mental health, cardiac, and seizures.
  • Overgrowth Syndrome Alliance (OSA) Paper
    • This is due at the end of december
    • Our paper will be advertising what we have for research to encourage sponsors, pharma, and researchers
    • I will make a post when/if this is published

Weekly Research Updates! – December 15, 2023 Read More »

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