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Abstract #4144

Identification of Novel Gene-Specific Bioimaging Markers in Autism Spectrum Disorder

Judith A. Gadde1 and John-Paul J. Yu1,2

1Department of Radiology, University of Wisconsin School of Medicine and Public Health, Madison, WI, United States, 2Department of Biomedical Engineering, University of Wisconsin School of Medicine and Public Health, Madison, WI, United States

Autism spectrum disorder (ASD) is a complex genetic neurodevelopmental disorder. Differential expression patterns, splice-variants, and mutations in Neurexin1 (Nrxn1) have been implicated in the neurodevelopment of ASD. New targeted genome editing technologies have yielded the first cogent genetic animal models of ASD with animals harboring biallelic deletions of Nrxn1, allowing for the assessment of gene-specific perturbations in white matter composition and organization. Interrogating changes in brain structure attributable to a specific genetic allele is the first step towards the development and validation of an objective imaging biomarker, which can contribute to the diagnosis of ASD.

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