Jennifer M. Bain, MD, PhD, is a physician scientist specializing in pediatric neurology. Dr. Bain is leading the cerebral palsy genetics study at the Weinberg Family Cerebral Palsy Center at Columbia University. She has a special interest in developmental disorders, including CTNNB1. Dr. Bain performed neurology assessments this past summer for our Natural History Study,…
Read More
Meet Lucy! She is one year old and lives in Lakeville, MN. She received her Ctnnb1 diagnosis at just 4 months. Lucy was born with multiple heart defects but luckily her heart has been healing itself and no intervention has been needed so far. Lucy was also born with a detached retina due to FEVR…
Read More
John is 5 years old. He is a very happy little boy. John was diagnosed with PHPV when he was 2 weeks old but was diagnosed with CTNNB1 when he was 3. He loves water play, light up toys and “Hey Duggee”. John can walk a very short distance unaided and wears splints (AFOs). John…
Read More
We are delighted to share the great news that lead researcher, Dr. Michele Jacob, Professor of Neuroscience at Tufts University, was recently awarded an NIH grant to conduct proof-of-concept studies of the therapeutic efficacy and safety of gene replacement therapy in CTNNB1 syndrome models. The studies are using two preclinical models of CTNNB1 heterozygosity, an…
Read MoreJackson is 2, he’s the happiest lil boy. He’s the youngest of 5 kids, he has 1 sister and 3 brothers. Jackson works hard at all his therapies, PT, OT, speech and a school based program 2x per week where he gets to interact with other kids his age. He loves the songs and bubbles at circle time….
Read More
Hello this is George from the UK. George is 6 years old and he is the happiest little boy! He always has the biggest smile on his face. George loves his family and going to his amazing school with his teachers and his friends . George enjoys sensory play, sensory massages, swimming, and his iPad…
Read More
