Autism spectrum disorder (ASD) is a group of complex neurodevelopmental disorders characterized by a pervasive impairment of social and communication skills along with repetitive and restrictive behaviors. The last decade of genomic and epidemiological research provided strong evidence on genetic variation and environmental exposures that contribute to ASD risk. With the substantial increase in sample numbers for epidemiology and genome-wide association studies (GWAS), specific common variants and environmental risk factors for ASD are now emerging. It is however still unclear how these common genetic variants and environmental risk factors for ASD affect downstream gene regulation and molecular pathways. In addition to GWAS, in the past decade, rare variant discovery efforts have also been fruitful, discovering individuals with ASD have an overabundance of rare variants in three biologic pathways. One of these three pathways implicated in ASD etiology was epigenetic regulation. For all types of genetic and environmental risk factors, there is a paucity of data on their contribution to ASD trajectories and ASD-related traits. Therefore, in parallel with increasingly well-powered genomic and epidemiological studies of ASD, it is vital to perform epigenomic and translational research to identify the molecular mechanisms that may mediate ASD risk. Identification of such mechanisms may provide not only a better understanding of the pathologies underlying the disorder but also offer new intervention and therapeutic approaches for ASD tailored to genetic and environmental risk factors.
This Research Topic aims to gain epigenetic and translational insights into downstream effects of ASD genetic and environmental risk factors. It also aims to highlight the evidence on the role of epigenetic dysregulation in the context of ASD and its related traits.
This Research Topic welcomes contributions from epigenetic research and translational perspectives investigating the role of gene regulation in ASD. Although this is not an exhaustive list, the following themes are considered suitable for this Research Topic:
- Investigation of epigenetic regulation in the context of ASD and its related traits.
- Integration of multi-omics data (genomic, environmental, epigenomic, transcriptomic, proteomic, metabolomic) to study downstream effects of ASD risk factors on molecular products and pathways.
- Functional experiments investigating associations between epigenetic dysregulation and ASD and its related traits (including cell experiments, CRISPR-Cas9 technology, animal models, behavioral experiments, etc.).
- Development and implementation of bioinformatic tools to study downstream effects of ASD risk factors on epigenetic regulation, molecular products and systems.
- Impact of pharmacological treatments on epigenetic regulation in the context of ASD and its related traits.
Autism spectrum disorder (ASD) is a group of complex neurodevelopmental disorders characterized by a pervasive impairment of social and communication skills along with repetitive and restrictive behaviors. The last decade of genomic and epidemiological research provided strong evidence on genetic variation and environmental exposures that contribute to ASD risk. With the substantial increase in sample numbers for epidemiology and genome-wide association studies (GWAS), specific common variants and environmental risk factors for ASD are now emerging. It is however still unclear how these common genetic variants and environmental risk factors for ASD affect downstream gene regulation and molecular pathways. In addition to GWAS, in the past decade, rare variant discovery efforts have also been fruitful, discovering individuals with ASD have an overabundance of rare variants in three biologic pathways. One of these three pathways implicated in ASD etiology was epigenetic regulation. For all types of genetic and environmental risk factors, there is a paucity of data on their contribution to ASD trajectories and ASD-related traits. Therefore, in parallel with increasingly well-powered genomic and epidemiological studies of ASD, it is vital to perform epigenomic and translational research to identify the molecular mechanisms that may mediate ASD risk. Identification of such mechanisms may provide not only a better understanding of the pathologies underlying the disorder but also offer new intervention and therapeutic approaches for ASD tailored to genetic and environmental risk factors.
This Research Topic aims to gain epigenetic and translational insights into downstream effects of ASD genetic and environmental risk factors. It also aims to highlight the evidence on the role of epigenetic dysregulation in the context of ASD and its related traits.
This Research Topic welcomes contributions from epigenetic research and translational perspectives investigating the role of gene regulation in ASD. Although this is not an exhaustive list, the following themes are considered suitable for this Research Topic:
- Investigation of epigenetic regulation in the context of ASD and its related traits.
- Integration of multi-omics data (genomic, environmental, epigenomic, transcriptomic, proteomic, metabolomic) to study downstream effects of ASD risk factors on molecular products and pathways.
- Functional experiments investigating associations between epigenetic dysregulation and ASD and its related traits (including cell experiments, CRISPR-Cas9 technology, animal models, behavioral experiments, etc.).
- Development and implementation of bioinformatic tools to study downstream effects of ASD risk factors on epigenetic regulation, molecular products and systems.
- Impact of pharmacological treatments on epigenetic regulation in the context of ASD and its related traits.
