NEURODEVELOPMENTAL DISORDERS & COPY NUMBER VARIANTS: GENETIC INSIGHTS INTO BEHAVIOR AND COGNITION
“βππ£π ππ π‘πͺ ππ¦ππππ£ π§ππ£ππππ₯π€ π‘πππͺ π π€ππππππππππ₯ π£π ππ ππ π₯ππ πππππ₯ππ ππ£ππππ₯πππ₯π¦π£π π π ππ¦π₯ππ€π πππ π π₯πππ£ πππ¦π£π πππ§πππ π‘ππππ₯ππ πππ€π π£πππ£π€.” - Professor Evan Eichler 𧬠Neurodevelopmental disorders (NDDs) including autism, ADHD, and intellectual disability arise from early disruptions in brain development & affect almost 15% of children globally. Their origins are multifactorial, but genetic architecture is increasingly recognised as a central driver, particularly the role of copy number variants (CNVs). πΉCNVs are structural genomic alterations involving the deletion or duplication of DNA segments. Although common in the population, certain rare CNVs significantly alter gene dosage, disrupt regulatory elements, or impair neural pathways, increasing susceptibility to NDDs. Robust evidence links CNVs at 22q11.2, 16...