NORD – CTNNB1 Syndrome and Research
CTNNB1 has been updated in the NORD database with new information and associated research about the disorder. https://rarediseases.org/rare-diseases/ctnnb1-syndrome/
Meet Glen
Glen is a 17 year old young man and a 10th grader in high school in Wyoming (USA). He LOVES Scooby-Doo, Frozen. Encanto, Power Rangers, Loud House (watching shows/movies or playing/wearing the characters). He is VERY social and loves seeing people he knows. He also loves swimming and riding horses. Hippotherapy is what finally got him…
Geisinger study supports genetic testing for individuals with cerebral palsy
Meta-analysis shows similar genetic diagnostic yield for cerebral palsy and other neurodevelopmental disorders. Thirteen studies published between 2013 and 2022, comprising 2,612 people, all related to CP and genetic testing, were evaluated by the Geisinger research team. Read more at https://www.eurekalert.org/news-releases/981810?fbclid=IwAR3DQVYNnL03XsTjFVPCfgnH-UtaT93oLIo_UE2YO1ck70IJRj3nZIts3tw.
Vinaya from Louisiana, USA
Meet Vinaya
Vinaya is 6 years old and is currently in 1st grade. She LOVES to dance and play with her finger puppets. Vinaya also really loves to give hugs and affection which we absolutely adore! She watches many videos in different languages (so cool!) and her tablet is her go to for “down time”. Vinaya has mono-alleic…
Meet Preston
Preston is 12 years old and is in 6th grade, his first year of middle school! He attends a local public school in the special ed/life skills program, and is a part of his school’s band- playing percussion. He also participates in a weekly bowling league and plays Challenger League baseball in the spring and summer.…
Meet Davis
Davis is the most loving and joyful 3 year old around. He captures the heart of all those he comes into contact with. His infectious laugh and ear to ear smile can light up a room. Davis loves music, being outside and playing with sensory toys (sand, water beads, etc). Davis has grown tremendously over the…
Meet Riley
Riley is 14 years old and currently in the 7th grade. She loves going to school and being with her friends, and her favorite activity is riding anything that goes fast and can make her feel the wind in her face. She's a fantastic helper to her family, most often keeping her little sister's toys picked…
CTNNB1 Leading Cause of Misdiagnosed Cerebral Palsy
A recent article from Mark Corbett and Sayaka Kayumi from the University of Adelaide in Australia shows that CTNNB1 can often be misdiagnosed as Cerebral Palsy. Studies show that one-quarter of CP cases are genetic in nature. In their study, CTNNB1 was the most frequently affected gene (4% of diagnoses) in a group of 1345 individuals…
CTNNB1 Syndrome Collaboration with Dr. Jacobs from Tufts University in the news
https://now.tufts.edu/2022/10/18/tufts-scientist-teams-families-find-treatment-rare-disease#top