Blog – CTNNB1 Connect & Cure

Research Update: Progress Toward a Potential Small-Molecule Therapy for CTNNB1

Thanks to the support of our community, CTNNB1 Connect and Cure has awarded an additional $50,000 to Dr. Michele Jacob’s lab at Tufts University to support six more months of research advancing a potential therapy for CTNNB1 syndrome. This funding supports our drug discovery collaboration led by Dr. Michele Jacob at Tufts University, together with scientists…

Comments Off

April 21, 2026

News

2025 Impact Report: A Year of Momentum, Milestones, and Meaningful Progress

As we reflect on 2025, one thing is clear: our community is driving extraordinary momentum for CTNNB1 research, awareness, and family support. Every milestone in this year’s Impact Report is a direct result of a shared belief—that our children deserve answers, hope, and a brighter future. Read the full report HERE Research Progress & Scientific Breakthroughs Over…

0 Comments

March 30, 2026

News / Research

CTNNB1 Drug Screen Update

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…

Comments Off

October 24, 2025

News

ICD-10 Code for CTNNB1 Syndrome: Q87.88

As of October 2025, CTNNB1 Syndrome has been assigned its own ICD-10 code. This marks a significant step forward in bringing visibility to this rare condition within the healthcare system. Having a dedicated code allows for more precise medical documentation, improves access to services and insurance coverage, strengthens the foundation for clinical trials, and enhances the…

0 Comments

September 15, 2025

Dragonflies

Meet Carter

"Carter just turned 3 at the end of October. We were fortunate enough to receive his diagnosis very early, at 10 months old. Some of his favorite things are hot wheels, our family dog, and blowing kisses. " -Carter's mom

Comments Off

April 30, 2025

Dragonflies

Meet Abby

"Abigail 'Abby' is a sweet and happy 2 year old. She adores Ms. Rachel and reading books, especially Brown Bear and "Who Said". She loves Cocomelon, playing with cars and trucks, and many other sensory toys especially ones that play music. Believe it or not, she LOVES *NSYNC. They are quick to calm her down and…

Comments Off

April 3, 2025

Educational

Media Requests: How To

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…

0 Comments

February 12, 2025

Educational

Proclamation Requests: How To

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,…

0 Comments

February 12, 2025

News / Research

New Research Breakthrough for CTNNB1 Syndrome

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…

0 Comments

February 7, 2025

News

CTNNB1 Connect & Cure Attends Rare Advocate Development Workshop in NYC

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…

0 Comments

February 5, 2025