Weekly Updates! - November 1, 2024

Weekly Updates! - November 1, 2024

Hey everyone! I hope everyone has had a great October. Here are some TBRS Community updates and reminders for this week:

• Updates on Variants of Uncertain Significance (VUS)

• • Recently, scientists have made headway in understanding some gene variants involved in TBRS, especially those called variants of uncertain significance (VUS).
    • VUS means that clinicians aren’t sure if genetic changes they find could cause health issues related to TBRS or not.
  • Thanks to new research, we’re seeing a clearer picture because of a change in what’s called a haploinsufficiency score
    • A haploinsufficiency score tells us how sensitive a gene is when one of its two copies doesn’t work properly.
      • If a gene has a high haploinsufficiency score, it means losing function in one copy can cause health issues, while a low score might mean it doesn't affect health as much.
    • With recent research, the haploinsufficiency score for DNMT3A –the gene that causes TBRS – has changed (and is now higher), which means some VUS could now be reclassified as pathogenic or likely pathogenic. In other words, this helps clarify diagnosis.
  • For patients, this could have real benefits, like helping with insurance coverage or even shaping their treatment plans.
  • This research is a huge step forward in understanding TBRS and helping affected families receive clearer answers and support!

• My TBRS lecture at the University of Pittsburgh
  • This week, I had the honor of speaking to a group of public health master’s students at the University of Pittsburgh, where I completed my Masters.
  • My lecture covered:
    • What it’s like to work with the TBRS Community
    • The impact of rare disease advocacy
    • Ways students can get involved in this field
  • I’m hopeful this visit will help bring more interns our way and raise awareness of TBRS, as we strive to inspire the next generation of advocates and researchers in rare disease!

• More Materials are now available in Japanese!
  • Our New Family Welcome Packet, Overgrowth Syndromes Alliance Brochure, and Baseball card have been translated!
  • As a part of our global initiative for TBRS, we are looking for volunteers to translate TBRS materials.
    • Having these materials in other languages will increase accessibility for many patients and families with TBRS worldwide!
  • We welcome translations in any language, though our largest focuses include:
    • French
    • German
    • Chinese
  • If you are available to translate any TBRS Community resource into another language, please consider volunteering! Reach out to kit@tbrsyndrome.org!

Thanks and I hope you have a great weekend!

Kit Church, CARE Manager