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Weekly Updates! – April 26, 2024

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Weekly Updates! - April 26, 2024

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

  • Biorepository samples IN ACTION!
    • The TBRS Biorepository is a collection of patient samples that is readily accessible for research.
    • Biorepository samples have been requested and sent for 2 Biomarker studies!
      • A biomarker is a measurable factor or biological molecule specific to TBRS that can be analyzed to test potential treatments. 
    • These studies help us in our goal to identify therapeutics for TBRS, and this research would not be possible without the samples donated from TBRS patients!
      • If you would like to participate in the TBRS Biorepository, click here.
  • TBRS Baseball Card (Trading Card) – new translations!
    • The TBRS Baseball Card (aka the TBRS Trading Card) is a resource with personalized information about a TBRS patient that caregivers can share with clinicians and other support professionals!
      • This resource has been translated into German and Spanish!
      • Click here for more information or to request your own card.
  • New Family Welcome Packet – translations! 
    • The TBRS Community New Family Welcome Packet is a resource that helps TBRS families, new and current, navigate TBRS information, support resources, and research participation. 
      • This document is currently in English but is being translated into Spanish and German.
      • To access this resource, click here.
  • REMINDER: TBRS Registry → call for echocardiograms, EKGs, and cardiac data
    • We have a researcher who is interested in studying heart problems in TBRS through the use of the registry data, primarily echocardiograms and EKGs.
      • If you have echocardiograms and EKGs that you have not uploaded to the patient registry, we encourage you to do so! 
      • You can also participate by filling out the cardiology survey in the TBRS Patient Registry.

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

Kit Church, Research Coordinator

Weekly Updates! – April 26, 2024 Read More »

Weekly Updates! – April 12, 2024

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Weekly Updates! - April 12, 2024

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

  • REMINDER: TBRS Exercise Challenge – NOW LIVE
    • The TBRS Exercise Challenge kicked off April 1!
      • The TBRS Challenge is a “Move-A-Thon” that raises money for TBRS while promoting a healthy lifestyle. 
      • Participants pick movement exercises, set goals, and collect sponsors for the event.
      • This year, money raised will be used to fund updates to the TBRS Patient Registry, including translations and standardization of data to increase the value of your efforts to help us understand TBRS!
    • Click here to support the challenge!
  • TBRS Registry → call for echocardiograms, EKGs, and cardiac data
    • We have a researcher who is interested in studying heart problems in TBRS through use of the registry data, primarily echocardiograms and EKGs.
      • If you have echocardiograms and EKGs that you have not uploaded to the patient registry, we encourage you to do so! 
      • You can also participate by filling out the cardiology survey in the TBRS Patient Registry.
  • EVENT: TBRS Parent and Caregiver Support Group
    • Saturday, April 20, 3-4 pm EDT
    • The TBRS Parent and Caregiver Social/Support Group is a virtual meeting. Connect with other parents, families, and caregivers, and get to know one another. All are welcome!
    • Click here to register.
  • Overgrowth Syndromes Alliance (OSA) paper
    • OSA is a joint project with our colleagues at the Malan Syndrome Foundation
    • We have been working on a paper for a Rare Epilepsy Special Collection on seizures and epilepsy in overgrowth-intellectual disability disorders
      • This paper is in revision with the journal.
      • I will post a link to this paper when it has been published. We hope it will bring awareness to seizures/epilepsy in overgrowth syndromes.

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

Kit Church, Research Coordinator

Weekly Updates! – April 12, 2024 Read More »

Weekly Updates! – April 5, 2024

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Weekly Updates! - April 5, 2024

Hello everyone! Hope you’re having a great week. I apologize for not posting updates the last 2 weeks, we have been a bit busy with traveling to conferences and wrapping up some plans. Here are some TBRS Community updates from the last few weeks:

  • TBRS Exercise Challenge – NOW LIVE
    • The TBRS Exercise Challenge kicked off April 1!
      • The TBRS Challenge is a “Move-A-Thon” that raises money for TBRS while promoting a healthy lifestyle. 
      • Participants pick movement exercises, set goals, and collect sponsors for the event.
      • ANYONE can participate in this challenge.
      • This year, money raised will be used to fund updates to the TBRS Patient Registry, including translations and standardization of data to increase the value of the data!
    • Click here to support the challenge!
  • TBRS Baseball Card – translations! 
    • The TBRS Baseball Card (aka the TBRS Trading Card) is a resource with personalized information about a TBRS patient that caregivers can share with clinicians and other support professionals!
      • This resource has been translated into German! 
      • It will be available in Spanish soon.
      • Click here for more information or to request your own card.
  • New Family Welcome Packet – translations! 
    • The TBRS Community New Family Welcome Packet is a resource that helps TBRS families, new and current, navigate TBRS information, support resources, and research participation. 
      • This document is currently in English, but is being translated into Spanish and German.
      • To access this resource, click here.
  • TBRS Conference in Spain
  • TBRS Conference in France
    • The TBRS Conference in Nancy, France was Friday March 29, 2024.        
  • TBRS Community website updates
    • We are currently updating the TBRS Community website – the new website will have a family section and a researcher section, with more updated information and translation ability.
      • We are also including a newsletter archive, a gene variant walkthrough, and easy access to support and research resources.
      • I will have more information on this as the website is developed!
  • Grant applications 
    • This week, we have collaborated on several different grants to benefit the TBRS Community and the Overgrowth Syndromes Alliance (OSA) research.
      • As we hear back regarding these applications I will post more information 
      • If you have any questions about this, please feel free to reach out to me.
  • Applications for TBRS Registry data
    • Recently, we have had 3 more applications for TBRS Registry data access.
      • We are reviewing these applications, but this truly shows the importance of the Patient Registry!
      • We are also in the process of updating this registry, which we are hoping to have completed in the coming months.
        • To participate in the TBRS Patient Registry, click here.

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

Kit Church, Research Coordinator

Weekly Updates! – April 5, 2024 Read More »

Weekly Updates! – March 15, 2024

Blog /

Weekly Updates! - March 15, 2024

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

  • TBRS Baseball Card
    • The TBRS Community Baseball Card is designed to be a quick resource for information on TBRS and specific information about the diagnosed individual. 
      • This card is great for sharing with clinicians, healthcare providers, caregivers, teachers, and other members of your care community.
      • This resources is currently translated for English and German, with Spanish coming soon!
    • For more information or to create a baseball card, click here.
  • New Family Welcome Packet
    • The TBRS Community has designed a New Family Welcome Packet that contains all of the important information on participation in research, community programs, and current knowledge on TBRS.
      • This packet is designed to support the newly diagnosed, but contains important information for all families in the TBRS Community.
      • Click here to view the packet.
  • TBRS Translation Accelerator Grant
    • Reminder: The TBRS Community is offering two $50,000 grants to support and accelerate treatment development for Tatton Brown Rahman Syndrome. For more information, click here.
    • We have received 5 applications for this grant!
    • 5 reviewers have evaluated these grant applications, and we will be announcing the recipients of these grants soon.
      • Stay tuned!
  • Rare Disease Summit 
    • I will be attending the Rare Disease Summit in Philadelphia this coming week.
    • Topics at this Summit include: Advocacy, partnering with industry (pharma and biotech), diagnosis, research tools, and disease treatment.
  • Reminder – Spain and France conference
    • 2 TBRS Community conferences are being held this March:
      • Burgos, Spain – Friday, March 22 – Sunday, March 24, 2024
      • Nancy, France – Friday March 29, 2024        

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

Kit Church, Research Coordinator

Weekly Updates! – March 15, 2024 Read More »

Weekly Updates! – March 8, 2024

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Hello everyone! Since we’re coming up on the 10th Anniversary of the discovery of TBRS, I have some related announcements this week:

  • 10th Anniversary: Special Edition Newsletter
    • We will have a newsletter coming out next week in honor of the 10th Anniversary of the discovery of TBRS.
    • This newsletter will feature some new resources, an announcement about our new Development Director, and information on the TBRS Challenge. 
    • Be on the lookout for this newsletter over the weekend!
  • TBRS Community Conferences – in Spain and France!
    • 2 TBRS Community conferences are being held this March:
      • Burgos, Spain – Friday, March 22 – Sunday, March 24, 2024
      • Nancy, France – Friday March 29, 2024        
  • Biorepository donations
    • The TBRS Community Biorepository is a collection of patient samples aimed at advancing research quickly while reducing patient burden of sample donation. 
      • Many of you have already donated to this Biorepository, either at the TBRS Summit 2023 or at home!
    • If you were expecting a donation kit for the Biorepository and have not yet received information on this, please reach out to me at [email protected]

Thank you, and I hope you have a great TBRS Awareness Month!

Kit Church, Research Coordinator

Weekly Updates! – March 8, 2024 Read More »

The TBRS Community welcomes Director of Development, Chelsea Spence

News /

Chelsea Spence joins the TBRS Community as the new Director of Development, bringing over thirteen years of dedicated experience in philanthropy, fundraising, and nonprofit management.

With a Master’s in Organizational Leadership specializing in Philanthropic Leadership from the University of Denver, Chelsea has a proven track record of driving growth and achieving fundraising targets through innovative campaigns, major gifts, and capital campaigns. Chelsea’s strategic expertise and commitment to developing meaningful relationships with donors are poised to significantly enhance the TBRS Community’s efforts in supporting individuals affected by Tatton Brown Rahman Syndrome. Chelsea is an outdoor enthusiast, enjoying Tennessee’s waterfalls and serving as a Girl Scout troop leader, nurturing the next generation of leaders.

We are excited to have Chelsea’s expertise to help guide the TBRS Community in fundraising and development efforts!

The TBRS Community welcomes Director of Development, Chelsea Spence Read More »

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