News

CTNNB1 has been updated in the NORD database with new information and associated research about the disorder. https://rarediseases.org/rare-diseases/ctnnb1-syndrome/

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.

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…

https://now.tufts.edu/2022/10/18/tufts-scientist-teams-families-find-treatment-rare-disease#top

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…

https://youtu.be/7XM4675se4Q

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…