Special Issue "Genes, Phenotypes and Molecular Mechanisms for Personalized Medicine in Autism"
Deadline for manuscript submissions: closed (20 June 2023) | Viewed by 10806
Interests: autism genomics; multivariant genotypes and clinical subtypes of Autism; whole exome/genome sequencing; multi-omics; precision medicine; molecular medicine and therapeutics
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Despite its singular diagnostic label, Autism is an enormously heterogeneous spectrum, both in a clinical and an etiological sense. Autism Spectrum Disorder (ASD)—often collectively referred to as the “autisms”—is a prime candidate for ‘precision or personalized medicine’, in which understanding of cause, rather than its categorical behavioural features alone, enables the customization of healthcare, personalized interventions, and informed medical decisions tailored to the individual.
The current global understanding of ASD suffers from three major challenges. First, we have a very restricted ability to diagnose different types of ASDs: this is currently achieved entirely through symptomatic behavioural criteria rather than through any understanding of the underlying biology. As a result, our ability to target different therapies to different forms of ASD is nearly non-existent. Second, these behaviours are the endpoints of extremely complex biological systems and change over time, providing a “moving target”. Third, as with all diseases, there are underlying molecular triggers to ASDs that are exacerbated by the environment and how individuals respond to it which are not yet fully understood.
With current genomics and ‘omic’ technologies, it is now possible to capture molecular profiles of individuals with ASD through their DNA, gut and organ microbes, metabolomic byproducts, and the physical, developmental, and molecular outcomes caused by the interaction of these factors with the environment.
In this Special Issue of Genes, we welcome contributions that identify the many genomic/omic etiologies of ASD-associated phenotypes in context with their molecular underpinnings, which allow a deeper understanding of ASD beyond psychometrics alone. For example, whole exomes, genomes and gene-environment susceptible microbiomes, metabolomes, proteomes, transcriptomes, and methylomes can individually and/or collectively inform specific molecular mechanisms leading to autism. Moreover, we can begin to integrate such molecular genomic/omic data toward a deeper understanding of their effect on brain development and function, eventually identifying the key factors that cause “the autisms”, and point to the most effective, personalized, and precise treatment pathway for each unique individual on the spectrum.
Dr. M. E. Suzanne Lewis
Manuscript Submission Information
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- next-generation sequencing
- data integration
- precision and personalized medicine
- molecular mechanisms and pathways