Blog

Hello everyone! I hope you’re having a great week. I have several TBRS Community updates from this week:

• • REMINDER: We’ve received several submissions of 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! 
        • These can also be sent to our Research Coordinator at [email protected].
      • You can also participate by filling out the cardiology survey in the TBRS Patient Registry.
        • To participate, please click here.
      • To have these documents included in the study, please have these submitted before Monday, May 13.
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  • TBRS Registry → call for MRI imaging data
    • 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! 
        • These can also be sent to our Research Coordinator at [email protected].
        • To upload to the registry, please click here.
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  • Global Genes Rare Drug Development Symposium
    • This week, I attended this conference, which focused on the pathway to drug discovery for rare diseases, and new tools and programs that can aid in this.
      • The conference was very engaging, and I identified some tools that might help us: 
        • increase diagnosis, 
        • estimate TBRS prevalence, and 
        • compare our disorder with other Overgrowth syndromes for use in clinical trials!
      • If you have any questions about this conference, feel free to reach out to me. 
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  • New TBRS Community board members
    • We have 3 new members of the board to introduce:
      • Robert Thibodeau
      • Zoe Wisnoski
      • Mónica Bejano Dominguez
    •  All three of our new board members are TBRS parents and provide unique perspectives to the board!
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  •  New members of the Medical and Scientific Advisory Committee
    • Our Medical and Scientific Advisory Committee is a group of TBRS clinicians and researchers who advise us on TBRS research and care. 
    • We’d like to welcome Dr. Irene Valenzuela and Dr. Vicken Totten to this committee!
      • Dr. Valenzuela is a clinical geneticist in Spain who is very involved with our Spanish community. 
        • Having her on our advisory board will give a great perspective on research and care in Spain and other countries in Europe. 
      • Dr. Totten previously worked as an ER doctor. She is also a parent to an individual with TBRS!
        • Vicken has worked tirelessly to learn more about TBRS and get papers published to improve care for diagnosed individuals.
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  • TBRS Disease Concept Model
    • We have a graduate researcher creating a disease concept model for TBRS.
      • A disease concept model is an analysis of all current TBRS literature, and interviews with TBRS families to gather information that has not been reported, to fully describe the disorder. 
      • This is like a precursor to clinical guidelines, and helps get information published that might not be in literature at the moment!
    •  I will post updates on this project as it evolves!
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  • Update: Overgrowth Syndromes Alliance (OSA) paper to be published!
    • 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.
      • This paper was recently accepted and will be published soon!
      • 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.
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  • Interested in hosting a TBRS fundraiser? 
    • If you are interested in holding a fundraiser, the TBRS Community is here to assist every step of the way!
      • Every year, families help us raise over $100,000 for TBRS research and support resources.
      • Fundraising events include cornhole tournaments, 5K runs, progressive dinners, and small home gatherings at your home, 
        • Each event plays a crucial role in raising funds and bringing our community closer. 
    • If you’re interested in hosting an event, our Development Director, Chelsea Spence, is here to help!
      • Chelsea is a fundraising professional and can provide support with ideas, marketing, and sponsorships to ensure your event is a success!
        • We know fundraising seems scary at first, but we are here to make it as easy and successful as possible.
      • Reach out to Chelsea at [email protected]. 
        • She will also be planning a group zoom meeting soon – details to be posted soon!

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

Kit Church, Research Coordinator