The Genomics of Intellectual Disability
Neurocognitive disorders are one of the largest unmet challenges in healthcare, due to their lifelong nature, high management costs, prevalence and frequent recurrence within families. The objectives of this research will be to enhance fundamental knowledge about the genetic basis of neurocognition and the investigation of targeted treatment strategies in relation to biological pathways. Non-coding and copy number variation mechanisms will be explored along, with a study on variable expressivity and non-penetrance in specific syndromes. It will apply genomic technologies to a cohort of at least 200 families with neurocognitive disorders, develop bioinformatics tools and implement functional studies using induced pluripotent stem cells and CRISPR/Cas9 to explore the heterogeneity underlying the genetic aetiology of intellectual disability. The outcomes of this research could enable improvements in clinical phenotyping, genomic diagnosis, common data analysis and reporting standards.