Autism Spectrum Disorder (ASD) affects at least 1% of the world’s population, creating large-scale medical, educational and social challenges.
As a spectrum disorder, ASD manifests in an array of exhibited challenges and strengths with an equally diverse number of genetic and environmental influences, making it a particularly difficult condition to study. With each study, the number of rare gene mutations associated with ASD has only grown. Because these mutations rarely recur, a coherent and systematic understanding of autism biology has not been achieved.
Recently, however, UNC Charlotte Bioinformatics professors, Drs. Weijun Luo and Cory Brouwer published a breakthrough paper in which they analyzed more than 8000 autism-related genetic mutations from two, large-scale whole-exome studies. Luo and Brouwer found that these mutations, critical to better understanding ASD, do not recur or replicate at the variant level, but do so significantly and increasingly at gene and pathway levels.
From Luo and Brouwer’s abstract: Genetic association reveals a novel gene + pathway dual-hit model, where the mutation burden becomes less relevant. In multiple independent analyses, hundreds of variants or genes repeatedly converge to several canonical pathways, either novel or literature-supported. These pathways define recurrent and systematic ASD biology, distinct from previously reported gene groups or networks. They also present a catalog of novel ASD risk factors including 118 variants and 72 genes.
By revealing such a large number of previously unreported genetic and biological connections, Luo and Brouwer’s work may bring us steps closer to unraveling the many mysteries of ASD.
April is, quite appropriately, Autism Awareness Month.