27 research outputs found
Genomics in neurodevelopmental disorders: an avenue to personalized medicine
Despite the remarkable number of scientific breakthroughs of the last 100 years, the treatment of neurodevelopmental
disorders (e.g., autism spectrum disorder, intellectual disability) remains a great challenge. Recent advancements in
genomics, such as whole-exome or whole-genome sequencing, have enabled scientists to identify numerous
mutations underlying neurodevelopmental disorders. Given the few hundred risk genes that have been discovered,
the etiological variability and the heterogeneous clinical presentation, the need for genotype — along with phenotype-
based diagnosis of individual patients has become a requisite. In this review we look at recent advancements in
genomic analysis and their translation into clinical practice