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…

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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…

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Once 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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Fall ACCT Research Update

I am extremely proud of what we as a community have accomplished in such a short time. Advancing CTNNB1 Cures and Treatments has successfully funded a CTNNB1 mouse colony and with the help of our brilliant researchers, has identified a novel drug treatment that has shown impressive results in our animal models. Please read more…

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Rare Disease Day 2021: Research Update

In our first grant, Michele Jacob, PhD, and her team at Tufts University created a mouse model with a full body deletion of one CTNNB1 allele. Since then, she and her team have bred a colony of CTNNB1 syndrome mice to be used in treatment experiments.

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Rare Disease Day 2021: Research Update