Autism is a common neurodevelopmental condition affecting 1 in 65 children in Irish schools. Autism is known to have a genetic basis although it is relatively complex. One type of genetic factor that has been identified in autism is known as a copy number variant (CNV). A CNV is a structural change in the genome, either a deletion or a duplication. A set of CNV that are found in autism and other neurodevelopmental disorders (NDDs) are known as neurodevelopmental CNV (ND-CNV). Although these are associated with autism and other NDDs, carriers may have different clinical outcomes. One possible explanation is that ND-CNV carriers have additional CNV in their genome that contribute to their condition and may make the condition more severe. It is also likely that the genes affected by these additional CNV impact on brain processes important in neurodevelopment and brain cell function. Understanding this better would help provide clearer information to patients and families about the outcomes associated with ND-CNV. It may also help to identify more about autism’s neurobiology. I will study additional CNVs in ND-CNV carriers in autism using two publicly available datasets. I will study if additional CNVs cause more severe clinical outcomes and whether the genes impacted are likely to alter brain development or function. I will use online databases, archives and bioinformatic tools for this study. The study will provide new knowledge for clinical interpretation of CNV that may help clinical geneticists provide better care and help to transform healthcare in this domain.
