Autism Spectrum Disorder: Genetics, Genomics and Model Organism

Dear Colleagues,

Autism Spectrum Disorder (ASD) is highly variable and complex set of neurodevelopmental disorder; clinically and etiologically heterogeneous in nature. ASD can be characterized by impairments in social and communication behavior, as well as restricted and repetitive interests and can be caused by genetic and/or environmental factors. Over the past two decades, autism genetics research grew rapidly leading to large number of discoveries. The advancement in the technology and genome based analysis methods have led to the discovery of a very large number of genetic factor associated with ASD. Next-generation sequencing (NGS) methods contributed substantially to identify the disruptive variants, copy number variation, disruptive gene expression to revolutionized ASD gene discovery. Third generation sequencing technologies and single cell studies have added another layer of information. However, there still exists a huge gap between genes/ mutations discovered and understanding the mechanism of risk. Not all these genetic factors lead to ASD. ASD show a wide variability in the degree of penetrance and is caused by number of different genes. Understanding how and why the genetic aberrations lead to ASDs in only a subset of cases, while not in others will help to understand the mechanism of ASD. Functional analyses in model organisms and genotype-phenotype correlation studies can help in reducing this gap. Recently, zebrafish has been recognized as a useful model of neurodevelopmental disorders with regards to genetics and behavior.

In this special issue, we will discuss recent advances in the ASD genetics and genomics including non coding RNA along-with how zebrafish and other model organisms have and can contribute towards the better understanding of the neurobiological consequences of the ASD-associated disrupting genetic factors. Third generation sequencing studies on ASD will be of great interest. Studies related to novel discoveries as we well as functional studies on known ASD related genetic factors are welcome. Biomedical functional analysis downstream to clinical studies will also be considered.

Dr. Ashok Patowary
Guest Editor

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• Autism Spectrum Disorder
• Next Generation Sequencing
• Zebrafish
• Long Read Sequencing
• Noncoding RNA
• Single Nucleotide Variation
• Gene expression
• Large insertion and deletion
• Structural variation
• Behaviour Study
• Genotype-Phenotype Correlation