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January 2025 Newsletter

Celebrating a Year of Progress, Connection, and HopeThanks to your unwavering support, CTNNB1 Connect and Cure had a monumental year. From advancing research to empowering families, your contributions have made a tangible difference.We’re excited to share our 2024 Impact Report, highlighting:Key milestones and achievementsImpactful initiatives in the areas of community, research, and education/awarenessFinancial transparency and funding breakdownGoals for the…

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January 20, 2025
Citizen Health & Chan Zuckerberg Initiative
News / Research

Citizen Health & Chan Zuckerberg Initiative

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…

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November 19, 2024
Newsletter

October 2024 Newsletter

Dear Family, Friends, and Partners of CTNNB1 Connect & Cure,As we step into the fourth quarter, we want to take a moment to update you on our progress, share some exciting news, and express our heartfelt gratitude for your unwavering support in our mission to find treatments and a cure for CTNNB1 syndrome.CTNNB1 SMALL MOLECULE DRUG DEVELOPMENT RECEIVES SUPPORT…

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October 15, 2024
Researchers Identify Possible Treatment for Rare Disorder
News / Research

Researchers Identify Possible Treatment for Rare Disorder

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…

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October 7, 2024
Meet Lily
Dragonflies

Meet Lily

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…

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September 9, 2024
News

The first evidence for an efficacious treatment with therapeutic potential for individuals with CTNNB1 syndrome!

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…

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September 3, 2024
Meet Phoebe
Dragonflies

Meet Phoebe

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…

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September 2, 2024
News

Simons Searchlight Registry Update

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…

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August 31, 2024
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