Any time is a good time to spread awareness for CTNNB1, but there are some special datesthat you should be familiar with: ● February 28 (or 29) - Rare Disease Day● April 25 - DNA Day● July - Disability Pride Month● July 25 - CTNNB1 Awareness Day● Tuesday after Thanksgiving - Giving Tuesday We suggest reaching…
What is a Proclamation? A proclamation is an official document issued by a government official to commemorate a specific time period (ex. day, week, or month) with the goal of honoring and celebrating events or increasing awareness of noteworthy issues among citizens. How to Request a Proclamation Contact the State or Local Government Office - Governors,…
Last week, our president, Emily Amerson, had the incredible opportunity to attend the Rare Advocate Development (RAD) Workshop in New York City! This impactful event brought together patient advocates, researchers, and industry leaders, all working toward a common goal—driving progress for the rare disease community. The workshop focused on empowering advocates with the tools and knowledge…
Lily is 6 years old and is heading into first grade in the fall. School is her absolute favorite place to be, which makes sense because she is a total celebrity in the school! We frequently run into people in town who recognize her and make it a point to tell us how much they adore…
FEVR (Familial Exudative Vitreoretinonpathy) is a major health concern for CTNNB1 patients, and thanks to a recent publication by Dr. Drew Scoles, caregivers now have an important resource for getting the proper testing. In this case series study of 11 CTNNB1 patients, nearly all required ophthalmic care for refractive error and strabismus, and a subset also…
We are excited to announce that the research by Dr. Michele Jacob and her team at Tufts University, funded by CTNNB1 Connect & Cure and the NIH, has officially been published by the EMBO Press! Inhibition of GSK3α,β rescues cognitive phenotypes in a preclinical mouse model of CTNNB1 syndrome: https://www.embopress.org/doi/full/10.1038/s44321-024-00110-5 Key Takeaways from the publication:- The…
Phoebe is a happy girl and she is almost 13 years old, she is unable to walk but is the quickest bum shuffler. Her speech has come on very well and can say small sentences. She is long sighted and wears glasses and now attends a specialist school full time. Phoebe loves music, playing games, horseriding…
Citizen Health, formerly Ciitizen, has launched a brand new onboarding experience - and it's better than ever! We’re partnered with Citizen Health to build critical natural history studies for our community - no site visits required! Citizen will do the work to collect your comprehensive medical history into your secure, digital profile and give you the…
Here’s our latest CTNNB1 registry numbers: Thank you to everyone for participating and helping the researchers understand CTNNB1 syndrome and developmental milestones for our kids! Our registry is a crucial step in the process of finding treatments and also a cure. We continue to make great progress 👏👏👏 If you haven’t registered yet, please follow these…
Thanks to all the support from the CTNNB1 community and the Orphan Disease Center, the Million Dollar Bike Ride (MDBR) held in Philadelphia on June 8, 2024, raised an amazing $63,312 for CTNNB1 research. We are excited to offer a one-year grant to support research related to CTNNB1 Syndrome. **Letters of Interest (LOI) Applications are Due Friday, September…