NORD – CTNNB1 Syndrome and Research
CTNNB1 has been updated in the NORD database with new information and associated research about the disorder. https://rarediseases.org/rare-diseases/ctnnb1-syndrome/
Geisinger study supports genetic testing for individuals with cerebral palsy
Meta-analysis shows similar genetic diagnostic yield for cerebral palsy and other neurodevelopmental disorders. Thirteen studies published between 2013 and 2022, comprising 2,612 people, all related to CP and genetic testing, were evaluated by the Geisinger research team. Read more at https://www.eurekalert.org/news-releases/981810?fbclid=IwAR3DQVYNnL03XsTjFVPCfgnH-UtaT93oLIo_UE2YO1ck70IJRj3nZIts3tw.
Meet Davis
Davis is the most loving and joyful 3 year old around. He captures the heart of all those he comes into contact with. His infectious laugh and ear to ear smile can light up a room. Davis loves music, being outside and playing with sensory toys (sand, water beads, etc). Davis has grown tremendously over the…
Meet Riley
Riley is 14 years old and currently in the 7th grade. She loves going to school and being with her friends, and her favorite activity is riding anything that goes fast and can make her feel the wind in her face. She's a fantastic helper to her family, most often keeping her little sister's toys picked…
CTNNB1 Leading Cause of Misdiagnosed Cerebral Palsy
A recent article from Mark Corbett and Sayaka Kayumi from the University of Adelaide in Australia shows that CTNNB1 can often be misdiagnosed as Cerebral Palsy. Studies show that one-quarter of CP cases are genetic in nature. In their study, CTNNB1 was the most frequently affected gene (4% of diagnoses) in a group of 1345 individuals…
CTNNB1 Syndrome Collaboration with Dr. Jacobs from Tufts University in the news
https://now.tufts.edu/2022/10/18/tufts-scientist-teams-families-find-treatment-rare-disease#top
Local South Carolina Family Committed to Finding a Cure
Read about this incredible CTNNB1 family who is making a difference and raising money for research for their daughter Savannah and so many other children just like her. We have all walked down this winding path to a diagnosis in a very similar way. The hope is one day instead of being told "your child has…
Simons Foundation Funds IPSC Cell Lines
The Simons Foundation has agreed to fund the development of 5 IPSC cell lines for preclinical drug testing. We are thankful for the generosity and support of this foundation which is committed to better understanding genetic neurodevelopmental conditions. ACCT is pushing full steam ahead to lay the necessary groundwork to appeal to the FDA for a…