Resources
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD
https://academic.oup.com/brain/article/146/2/534/6650380
CAPRIN1P512L causes aberrant protein aggregation and associates with early-onset ataxia https://link.springer.com/article/10.1007/s00018-022-04544-3
Targeted deletion of the RNA-binding protein Caprin1leads to progressive hearing loss and impairs recovery from noise exposure in mice
https://www.nature.com/articles/s41598-022-05657-2
Self-injury and pain resources for parents/carers:
https://cerebra.org.uk/wp-content/uploads/2020/01/Self-injurious-behaviour-2019-low-res.pdf
Autism in genetic syndromes:
https://cerebra.org.uk/download/autism/
https://cerebra.org.uk/wp-content/uploads/2021/05/sensory-processing-low-res-may21.pdf
Anxiety in genetic syndromes
https://cerebra.org.uk/download/anxiety-guide-a-guide-for-parents/
Teacher training resource to support education practitioners working with children with rare genetic syndromes: www.findteacherresources.co.uk
General information for parents and caregivers and professionals: www.findresources.co.uk
Explore Genetic Science Breakthroughs
Sickle Cell Disease Treatment The FDA approved the first CRISPR-based therapies for sickle cell disease, offering a potential cure for patients by correcting the genetic mutations responsible for the condition. This milestone marks a significant advancement in gene therapy applications. Restoring Vision in Congenital Blindness Gene therapy trials have shown promise in treating Leber congenital amaurosis (LCA), a rare genetic condition causing blindness. In a recent study, children receiving injections of healthy copies of the defective gene exhibited notable improvements in vision, indicating a potential breakthrough in addressing severe childhood blindness.