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.
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…
Read More
CTNNB1 has been updated in the NORD database with new information and associated research about the disorder.
Read MoreMeta-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.
Read MoreA 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…
Read Morehttps://now.tufts.edu/2022/10/18/tufts-scientist-teams-families-find-treatment-rare-disease#top
Read More