Caleb is a happy nine-year-old boy and can be seen with a smile on his face almost all the time! Since his diagnosis of CTNNB1, he has progressed in many ways, including physical, occupational, speech, and academic areas. His school provides him with a pull out math class, and a language arts program that helps him…
The Penn Medicine Orphan Disease Center (ODC) will host the 11th Annual Million Dollar Bike Ride on Saturday, June 8, 2024 to raise money for rare disease research. The Million Dollar Bike Ride brings over 600 cyclists and volunteers to Penn’s campus to ride either 10, 32, or 72 miles starting in the city, and ranging…
Rowan is 4 years old and is currently in preschool. Rowan is very smart and already passing tests for kindergarten readiness in school. He knows the alphabet and is able to read many short words. Rowan loves learning about words and numbers. He enjoys art, books, and shopping trips with family. Rowan has recently started walking…
Are you the caregiver of someone with CTNNB1 syndrome? Join our search for answers by signing up for Simons Searchlight, an international research program with the goal of accelerating science and improving lives for people with rare genetic neurodevelopmental disorders. Your unique experience could hold the clues that scientists need to find treatments and a cure! Step…
Several recent studies support genetic testing for ALL patients with Cerebral Palsy. The Weinberg Family CP Center at Columbia University has put this into practice. Dr. Jason Carmel, Executive Director, explains "we routinely screen all of our patients with CP for a genetic cause." This is also the reason we partner with Probably Genetic to provide…
Rare Epilepsy Network (REN) is a volunteer network that connects rare epilepsy organizations and broad epilepsy stakeholders to work together to improve the lives lived of our individual constituents. They work to promote and enable successful patient-centered outcomes research, enable successful clinical trials in the rare epilepsies, and increase representation of the rare epilepsies in funding, research,…
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, and…
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 so…
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 is…
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 in…