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…
Read MoreRare 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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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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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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