A New Digital Natural History Study for CTNNB1 Syndrome

Attention CTNNB1 families! CTNNB1 Connect and Cure is excited to announce our partnership with Invitae’s Rare Patient Network on the Ciitizen platform. We are joining many other rare disease groups that have been using Ciitizen to build high-quality natural history data in a fraction of the time. Researchers and pharmaceutical companies have already used the…

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A New Digital Natural History Study for CTNNB1 Syndrome

Meet Ford

Ford has piercing blue eyes and a wild mop of curly hair, so blonde it looks white. It reminds me a lot of Doc’s hair in Back to the Future. I’ve never cut his hair nor do I brush it. He tries harder at everything than anyone I’ve ever met, and he has an infectious…

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Meet Ford

Basket Auction Fundraiser

A wonderful fundraising event had about 180 people in attendance and they raised over $16,000! Read all the details from CTNNB1 mom Diana.

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Basket Auction Fundraiser

No-Cost Genetic Testing

Probably Genetic is a group of geneticists, engineers, and patients seeking to help people with rare diseases
access genetic testing. The company has recently launched a no-cost genetic testing program for people with
seizures, movement disorders and/or developmental delay. Eligible individuals can receive whole exome
sequencing at no cost. This testing analyzes all of the protein-coding regions of your DNA for disease-
causing mutations.

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No-Cost Genetic Testing

A Rare Soirée

Looking for a new fundraiser idea? Effie Parks, CTNNB1 Connect & Cure board member and mom to CTNNB1 son Ford, had a great – and successful – idea for this year’s Rare Disease Day. She joined forces with her good friend and fellow Rare mom, Jill Hawkins, to host a “Rare Soiree,” an auction and…

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A Rare Soirée

Meet Isaac

Isaac is 7 years old and currently in year 3 at school in the UK. Isaac is the most determined child I have ever met, always pushing himself to do more and try again. He has the most infectious laugh and personality and is so cheeky! He currently walks inside short distances unaided but struggles…

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Meet Isaac