Recent efforts in the area of microbiome research have suggested a potential role of the human microbiome in mediating the effects of genetic and environmental risk factors on the development of autism spectrum disorders (ASDs) and are pointing to the possibility of developing microbiome-based biomarkers to aid diagnosis. However, evidence is still preliminary, and little efforts have been made to characterize the human microbiome in the context of the complex genetic architecture of ASD.

In the current project, Enrico Domenici and colleagues aim to exploit the availability of whole-genome sequencing data from salivary DNA of participants in the SPARK cohort to verify the hypothesis of an altered microbiome in ASD. The researchers plan to investigate the oral microbiome diversity in discordant sibling pairs by exploiting a well-established large-scale strain-resolved metagenomic pipeline¹.

The work will be conducted in two work streams (focusing on the host and microbial data processing, respectively); these two streams will converge during the second phase of the project, as part of the integrated analysis. By combining microbial genomic data with information on the host genome, Domenici and his team expect to be able to identify metagenomic profile characteristics for individuals with ASD and potentially for ASD subgroups stratified on the basis of clinical and genetic risk factors.

Findings from this study will extend the genetic characterization of the SPARK cohort beyond the host genome, building a framework for a systems biology view of the brain-microbiome axis in ASD.