Year: 2026
Type: dissertation
Abstract: Neurodevelopmental disorders (NDDs) are a broad spectrum of conditions that emerge early in development and result in pervasive impairments in functioning that present barriers for individuals affected and their support systems. The underlying molecular mechanisms that mediate these challenges are not well understood and are complicated by an array of genetic and environmental contributors. Thus, there are a lack of therapeutic approaches available to support the most difficult challenges associated with NDDs. This dissertation aims to address this knowledge gap by elucidating the molecular impact of 16p11.2 hemideletion on the striatum. 16p11.2 hemideletion (16p del), a copy number variation resulting from loss of 27 genes on the short arm of chromosome 16, is associated with a high penetrance of NDDs. The striatum is a sub-cortical brain region hypothesized to be a common node impacted in NDDs including autism spectrum disorder (ASD). Because 16p del is one of the most common risk factors for NDDs including ASD, the insights gleaned from its effect on a key NDD-associated brain region promises to pave the way for better support both for individuals with 16p del and NDDs more broadly (Chapter 1).
DOI: 10.25820/etd.008467
Author: Kelvington, Benjamin A.
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W7212230377