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…
Read MoreCTNNB1 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
Read MoreDr. Michele Jacob will be speaking at upcoming WNT & B-Catenin Targeted Drug Development Conference about her exciting work to help treat patients with CTNNB1 Syndrome
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…
Read More2022 CTNNB1 DAY – Meet our Research Team, Tour the Lab, Hear an Exciting Research Update
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…
Read MoreOnce Upon a Gene features 4 CTNNB1 Families
If you haven’t subscribed to Once Upon a Gene, produced and narrated by CTNNB1 mama Effie Parks, you are missing out. This weeks show “A Rare Collection, this is Us” features four CTNNB1 moms telling their stories about raising a child with special needs. The podcast as a whole is beautifully produced and truly unites…
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