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…
Andrew Robinson was born on August 23, 2011. He was, to our knowledge, the first to be diagnosed with CTNNB1 Syndrome (at that time there wasn't a syndrome) in 2014 in the United States. We live in Norman, Oklahoma. Andrew knows no limits. He has been integrated in a regular education classroom since Kindergarten. He just…
We are honored to share the following article, written by Perla Sandoval & Allison Brown at La Jolla Labs, Inc. It discusses the history of our understanding of the disease and the state of current treatment options. Check it out and share! https://www.genome.bio/post/searching-for-a-cure-for-ctnnb1-syndrome
"Silvia ha 10 anni...e frequenta la scuola primaria. È verbale ..ma presenta ritardo cognitivo... motorio... disturbo del comportamento e deficit dell'attenzione. È molto simpatica e socievole...ma anche molto facile al pianto. Vuole essere sempre al centro dell'attenzione con modo molto molto infantili. Le piace stare con i ragazzi della sua età...cosa che diventa sempre più difficile…
"Julius is our 9 year old rainbow baby. We found out he had CTNNB1 at the age of 3. The first two years of his life, we were pretty perplexed and unaware as to what was contributing to his major developmental delays and severe hypotonia. He faced many challenges but also accomplished many goals, which at…