"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…
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…
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…
Dr. Michele Jacob at Tufts University and collaborators from Johns Hopkins are working on a novel mRNA approach to help our Dragonflies. This short animation describes this type of treatment. https://youtu.be/nkG1RvnZvPg?si=cecwsoSlenn-Up6v
Tonya is back to explain how a single drug compound could help our Dragonflies. https://youtu.be/-YBIjRnwEeo?si=SlBruZa5VbVL65Vu
CTNNB1, Funding Research, Advocacy, and promoting Awareness. Like, did you know that the number one genetic cause of Cerebral Palsy is CTNNB1 Syndrome? https://youtu.be/g05-YGNVexU?si=ehakhR83wpRTz_Ry