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
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…
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…
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,…
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…
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…
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…
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…
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…
Clinical Update! FEVR Publication by Dr. Drew Scoles, Children’s Hospital of Philadelphia
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…