A large study performed whole-genome sequencing in 327 children with cerebral palsy (CP) has found a high prevalence of genomic variation that likely contributes to the risk of developing the condition.
The seven-year study found that more than one in ten children (11.3 per cent) had a genetic variant or likely genetic variant for their CP, and 17.7 per cent of children had variants of uncertain significance that may be linked with CP after further research. Many of the variants also overlapped with other neurodevelopmental conditions, including autism spectrum disorder (ASD) which is highly prevalent in children with CP. "That's quite high, and it tells us that genetic risk is something that we need to think about when we're doing a workup for children with cerebral palsy," study author Darcy Fehlings, MD, senior clinician scientist at Holland Bloorview Kids Rehabilitation Hospital and professor of pediatrics at the University of Toronto.
The study, supported in part by the McLaughlin Centre, was published on March 29, 2024, in Nature Genetics.The data collected through this study are the first whole-genome sequencing data to be made available in the Brain-CODE analytics and informatics platform, managed by the Ontario Brain Institute, in an effort to improve access to genome sequencing data for scientists around the world.READ MORE
