Dear CTNNB1 Community, We are beyond thrilled to share exciting news from a groundbreaking research project fully funded by CTNNB1 Connect and Cure — made possible by your fundraising efforts and generosity! Thanks to this incredible community, we were able to support a study led by Dr. Clement Chow at the University of Utah, where his…
A recent study published in Molecular Therapy – Nucleic Acids introduces a promising therapeutic approach for CTNNB1 Syndrome, a rare genetic disorder characterized by severe intellectual disabilities, motor delays, and other neurological impairments. The research focuses on a novel gene therapy technique that aims to restore normal function of the CTNNB1 gene. In this study, researchers utilized advanced…
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…
The Chan Zuckerberg Initiative and Citizen Health have announced a strategic investment and partnership to drive drug development and accelerate cures for rare diseases. Ctnnb1 Connect & Cure is proud to be part of this rare disease movement, with many of our members already using Citizen Health to share their de-identified data and contribute to critical…
Researchers at Tufts University School of Medicine and the Graduate School of Biomedical Sciences (GSBS) have identified a small molecule that, in mouse and human cell models, rectifies the underlying molecular cause of a rare genetic developmental disorder linked with motor and intellectual disabilities and some types of autism spectrum disorder. Their most recent research, published in EMBO Molecular Medicine, provides the…
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…
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…