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

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