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

Caroline’s Story

Our beautiful daughter, Caroline, was born in October of 2014 after a normal and healthy pregnancy. She was a happy and engaged baby, however by eight months she began to miss some of her developmental milestones and exhibited strabismus in one of her eyes.

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Caroline’s Story

Sean Declan’s Story

Our beautiful baby boy, Sean Declan, was born in July 2017 after a completely healthy and uneventful pregnancy. We left the hospital after 24 hours because our three-year-old daughter missed us and wanted to see her new little brother, and home we went.

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Sean Declan’s Story