Here’s our latest CTNNB1 registry numbers: Thank you to everyone for participating and helping the researchers understand CTNNB1 syndrome and developmental milestones for our kids! Our registry is a crucial step in the process of finding treatments and also a cure. We continue to make great progress 👏👏👏 If you haven’t registered yet, please follow these…
Thanks to all the support from the CTNNB1 community and the Orphan Disease Center, the Million Dollar Bike Ride (MDBR) held in Philadelphia on June 8, 2024, raised an amazing $63,312 for CTNNB1 research. We are excited to offer a one-year grant to support research related to CTNNB1 Syndrome. **Letters of Interest (LOI) Applications are Due Friday, September…
Andrew Robinson was born on August 23, 2011. He was, to our knowledge, the first to be diagnosed with CTNNB1 Syndrome (at that time there wasn't a syndrome) in 2014 in the United States. We live in Norman, Oklahoma. Andrew knows no limits. He has been integrated in a regular education classroom since Kindergarten. He just…
Dear Family, Friends, and Partners of CTNNB1 Connect & Cure,As we enter the 3rd quarter of 2024, we want to take a moment to provide some exciting updates as well as our heartfelt gratitude for your support in our mission to find treatments and a cure for CTNNB1 syndrome. July 25th is CTNNB1 Awareness Day!Awareness is SO important for rare diseases…
We are honored to share the following article, written by Perla Sandoval & Allison Brown at La Jolla Labs, Inc. It discusses the history of our understanding of the disease and the state of current treatment options. Check it out and share! https://www.genome.bio/post/searching-for-a-cure-for-ctnnb1-syndrome
"Silvia ha 10 anni...e frequenta la scuola primaria. È verbale ..ma presenta ritardo cognitivo... motorio... disturbo del comportamento e deficit dell'attenzione. È molto simpatica e socievole...ma anche molto facile al pianto. Vuole essere sempre al centro dell'attenzione con modo molto molto infantili. Le piace stare con i ragazzi della sua età...cosa che diventa sempre più difficile…
"Julius is our 9 year old rainbow baby. We found out he had CTNNB1 at the age of 3. The first two years of his life, we were pretty perplexed and unaware as to what was contributing to his major developmental delays and severe hypotonia. He faced many challenges but also accomplished many goals, which at…
Rosalie is 3 years old. She got her diagnosis on her 2nd birthday. Rosalie uses a wheelchair to get around and is learning to use a walker. Rosalie is determined and loves to learn new things. She is now a big sister and loves helping take care of her baby brother. Rosalie loves all things pink…
Emma was a medical mystery for almost 8 years. Appointment after appointment, yielded very little answers. MRI's came back normal. When she was 3 we met with genetics and the geneticist basically looked at us and told us nothing was wrong. We were extremely discouraged by this and at a loss. It took almost 5 years…
Dr. Jacob at Tufts University has identified a small molecule that shows the potential to alleviate many of our dragonfly’s learning and motor symptoms. She has been working diligently with medicinal chemists to find the best version of this small molecule to use in our patients. One version has already been through phase II clinical trials…