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Weekly Updates! – July 5, 2024

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Weekly Updates! - July 5, 2024

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

  • TBRS & DNMT3A Patient Registry – NOW TESTING!
      • 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!
        • In the next few weeks, we will be testing these surveys, and will need volunteers to test as well.
        • I will provide more information when we begin looking for volunteer testers. 
  • 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!
  • 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!
    • Click here to sign up for Citizen Health!

I am off next week, but will provide an extended update on Friday, July 19. Thank you, and I hope you have a great weekend!

Kit Church, Research Coordinator

Weekly Updates! – July 5, 2024 Read More »

Weekly Updates! – June 27, 2024

Blog /

Weekly Updates! - June 27, 2024

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

    • EVENT: TBRS Friends and Family Support Group THIS WEEKEND
      • Our next support group will be this Saturday, June 29, 2024 from 3-4pm EDT.
      • This is a virtual meeting. Meet with other parents, families, friends,. and caregivers, and get to know one another. All are welcome!
  •  
    • 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!
  • New video – Interpreting your genetic report!
      • I have been working with our intern, Kaho Kato, to develop a video explaining how to interpret a genetic report!
        • We’ve heard from families who have found it difficult to understand the information presented in their report. 
        • We hope this video will assist in this!
      • The video should be completed in the next few weeks. I will make a post announcing it when it has been completed.
      • As always, if you have any questions or need private assistance with interpreting your report, please contact me at [email protected] 
  • TBRS Patient Registry – no consent or no surveys completed?
    • There are some Participants in the TBRS Patient Registry that either have:
      • Not consented to participate in the TBRS Patient Registry, or
      • Have not completed any surveys
    • If you are one of these participants, I have likely already reached out to see if this was intentional!
      • Please keep an eye out for these messages
    • REMINDER: you are not required to participate in the TBRS Patient Registry and can revoke consent at anytime
      • To participate in the TBRS Patient Registry, click here!
  • REMINDER: TBRS Registry → call for MRI imaging data – INFO coming soon
    • We have a researcher who is interested in studying how an area of the brain is affected in TBRS through the use of MRI data from the registry.
      • If you have MRI reports and/or images that you have not uploaded to the patient registry, we encourage you to do so! 
      • I will be looking into how best to obtain this data in the coming week and will share this information next friday.

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

Kit Church, Research Coordinator

Weekly Updates! – June 27, 2024 Read More »

Weekly Updates! – June 21, 2024

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Weekly Updates! - June 21, 2024

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

    • Thanks to everyone who uploaded echocardiograms, EKGs, and cardiac data! 
      • These have been sent to a researcher studying patterns of heart problems in TBRS. We’re excited to see what this research discovers! 
        • Thanks again for the quick uploads from families! It is inspiring to see how engaged in research our community is!
        • To participate in the TBRS Patient Registry click here.
    • REMINDER: TBRS Registry → call for MRI imaging data – INFO coming soon
      • We have a researcher who is interested in studying how an area of the brain is affected in TBRS through the use of MRI data from the registry.
        • If you have MRI reports and/or images that you have not uploaded to the patient registry, we encourage you to do so! 
        • I will be looking into how best to obtain this data in the coming week and will share this information next friday.
  • REMINDER: Consider sharing your genetic report
    • We have had several patients in the past few months who think that they have TBRS – but looking at their genetic report showed they have a different disorder!
      • This is one of the many reasons that we ask for genetic report uploads. This not only helps research, but helps to find areas of confusion.
    • We kindly ask you to consider sharing your genetic report with us by uploading it to the TBRS Patient Registry or to Count Me In For TBRS. Your participation can make a huge difference and help us move closer to better understanding and treating TBRS.

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

Kit Church, Research Coordinator

Weekly Updates! – June 21, 2024 Read More »

Weekly Updates! – June 14, 2024

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Weekly Updates! - June 14, 2024

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

  • Scientific and Medical Advisory Committee meeting update from this week
      • This week, we held a Scientific and Medical Advisory Committee meeting
      • Some topics of discussion included:
        • Publishing TBRS Patient Registry data
        • Brainstorming Overgrowth Syndromes Conference
        • Working groups for diagnostic and clinical guidelines for TBRS
      • I will provide more information on all of these topics as they develop!
  • Consider sharing your genetic report
    • Help us advance Tatton Brown Rahman Syndrome research by sharing your genetic report!
    • Your genetic report can make a big difference for several reasons:
      1. It helps us advance research on TBRS and the different genetic variants TBRS individuals have
      2. It ensures we can confirm the TBRS diagnosis
      3. Having more patients with genetic reports helps support clinical trials and treatments
      4. It strengthens our community by helping us know how many people are diagnosed worldwide!
    • We kindly ask you to consider sharing your genetic report with us by uploading it to the TBRS Patient Registry or to Count Me In For TBRS. Your participation can make a huge difference and help us move closer to better understanding and treating TBRS.
  • REMINDER: Opportunities to donate to the Biorepository!
    • We have more opportunities to donate to the TBRS Biorepository! 
    • Donating blood samples to the TBRS Biorepository contributes to further understanding TBRS and developing treatments. 
      • 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:
      • June 20-22 Denver, CO
      • July (TBD) – Philadelphia, PA
      • July 15 – Philadelphia, PA
      • July 27-28 – Philadelphia, PA
      • July 28-30 – Seattle, WA
      • September 25-28 – Atlanta, GA
      • October (TBD) – Nashville, TN
      • 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]. 
  • REMINDER: Learn more about Count Me In for TBRS and find out how it benefits research!
    • Count Me In for TBRS is a Patient Directory. This is a private collection of information from the TBRS community, including contact, location, genetic variant, and clinical information. 
    • This information is important to better estimate the number of patients with TBRS and their location to learn more about TBRS and encourage treatment development. This also helps to identify clinicians for other patients.
    • No identifiable information will ever be shared with outside parties. 

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

Kit Church, Research Coordinator

Weekly Updates! – June 14, 2024 Read More »

Weekly Updates! – June 7, 2024

Blog /

Weekly Updates! - June 7, 2024

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

  • Overgrowth Syndromes Alliance – Epilepsy paper published! 
      • Reminder: The Overgrowth Syndromes Alliance (OSA) is a joint project with our colleagues at the Malan Syndrome Foundation, aiming to find similarities between and treatments for many Overgrowth Intellectual Disability syndromes (OGIDs).
      • We have been working on a paper for a Rare Epilepsy Special Collection on seizures and epilepsy in overgrowth-intellectual disability disorders, using anecdotal and registry data… and its finally been published!
      • We are excited to have this information published and available, and hope it will bring awareness to seizures/epilepsy in overgrowth syndromes.
  • Overgrowth Syndromes Alliance Brochure
      • We are excited to share our new Overgrowth-Intellectual Disability (OGID) Syndromes brochure created by the Overgrowth Syndromes Alliance (OSA). 
        • This brochure is designed to provide information about OGID syndromes and resources for families and medical professionals. 
        • We believe that widespread dissemination of this brochure can significantly enhance awareness and understanding of overgrowth syndromes, as well as encourage genetic testing for individuals to receive better care.
      • We encourage the members of our community to download and share this valuable resource with your medical providers to help further understanding of all OGIDs!
        • Click here to access the brochure and read the full story.
  • Jill attended the Groundwater Training
    • This two-day workshop was hosted by the Racial Equity Institute in collaboration with the Chan Zuckerberg Initiative. 
      • This training specifically focused on the systemic and structural manifestations of racism.
      • In our racially-structured society, people of color are forced to live with gross and often lethal health disparities. Unfortunately, the rare disease space is no different. Learning about the past will help us change the future. 
  • Learn more about Count Me In for TBRS and find out how it benefits research!
    • Count Me In for TBRS is a Patient Directory. This is a collection of information from the TBRS community, including contact information, location information, variant information, and clinical information. 
    • This information is important to better estimate the number of patients with TBRS and their location to learn more about TBRS and encourage treatment development.  This also helps to identify clinicians for other patients.
    • No identifiable information will ever be shared with outside parties. 
  • Upcoming: New Family Welcome Packet will soon be available in Spanish!
    • We are currently working to have the New Family Welcome Packet available in as many languages as possible.
      • We know that many of our families do not speak English, and want to ensure that our resources are accessible!
    • This resource will soon be available in Spanish,
      • If you are interested in assisting with translation for TBRS Community resources, please reach out to Jill Kiernan at [email protected]. 

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

Kit Church, Research Coordinator

Weekly Updates! – June 7, 2024 Read More »

New Publication Highlights Collaborative Efforts for Understanding Epilepsy in Overgrowth-Intellectual Disability Syndromes

News /

The Tatton Brown Rahman Syndrome (TBRS) Community and the Malan Syndrome Foundation are proud to announce the publication of a significant new article, “Epilepsy and Overgrowth–Intellectual Disability Syndromes: A Patient Organization Perspective on Collaborating to Accelerate Pathways to Treatment.” This publication introduces the Overgrowth Syndromes Alliance (OSA), a collective effort between the TBRS Community and Malan Syndrome Foundation, uniting patient advocacy organizations and researchers to improve care and identify treatments for rare overgrowth–intellectual disability (OGID) syndromes.

The paper underscores the importance of a patient-first approach, focusing on the needs and priorities of the OGID community. It highlights the underrecognized occurrence of seizures within these syndromes. Additionally, it provides a valuable resource for patients to discuss appropriate screening and care with their primary care providers and neurologists.

The OSA aims to accelerate research and treatment development by fostering collaboration and shared goals among overgrowth patient organizations. This paper includes the OSA research roadmap, a guide that provides the framework for therapeutic development, as well as research tools essential for clinical trial readiness.

This publication is a milestone for the OGID community, offering hope and direction for future research and therapeutic advancements.

Click here to view the publication!

New Publication Highlights Collaborative Efforts for Understanding Epilepsy in Overgrowth-Intellectual Disability Syndromes Read More »

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