Genome, environment, microbiome and metabolome in autism (GEMMA) study design: Biomarkers identification for precision treatment and primary prevention of autism spectrum disorders by an integrated multi-omics systems biology approach

Jacopo Troisi, Reija Autio, Thanos Beopoulos, Carmela Bravaccio, Federica Carraturo, Giulio Corrivetti, Stephen Cunningham, Samantha Devane, Daniele Fallin, Serguei Fetissov, Manuel Gea, Antonio Giorgi, François Iris, Lokesh Joshi, Sarah Kadzielski, Aletta Kraneveld, Himanshu Kumar, Christine Ladd-Acosta, Geraldine Leader, Arlene MannionElise Maximin, Alessandra Mezzelani, Luciano Milanesi, Laurent Naudon, Lucia N. Peralta Marzal, Paula Perez Pardo, Naika Z. Prince, Sylvie Rabot, Guus Roeselers, Christophe Roos, Lea Roussin, Giovanni Scala, Francesco Paolo Tuccinardi, Alessio Fasano

Research output: Contribution to journalArticlepeer-review

Abstract

Autism Spectrum Disorder (ASD) affects approximately 1 child in 54, with a 35-fold increase since 1960. Selected studies suggest that part of the recent increase in prevalence is likely attributable to an improved awareness and recognition, and changes in clinical practice or service availability. However, this is not sufficient to explain this epidemiological phenomenon. Research points to a possible link between ASD and intestinal microbiota because many children with ASD display gastro-intestinal problems. Current large-scale datasets of ASD are limited in their ability to provide mechanistic insight into ASD because they are predominantly cross-sectional studies that do not allow evaluation of perspective associations between early life microbiota composition/function and later ASD diagnoses. Here we describe GEMMA (Genome, Environment, Microbiome and Metabolome in Autism), a prospective study supported by the European Commission, that follows at-risk infants from birth to identify potential biomarker predictors of ASD development followed by validation on large multi-omics datasets. The project includes clinical (observational and interventional trials) and pre-clinical studies in humanized murine models (fecal transfer from ASD probands) and in vitro colon models. This will support the progress of a microbiome-wide association study (of human participants) to identify prognostic microbiome signatures and metabolic pathways underlying mechanisms for ASD progression and severity and potential treatment response.

Original languageEnglish (US)
Article number743
Pages (from-to)1-16
Number of pages16
JournalBrain Sciences
Volume10
Issue number10
DOIs
StatePublished - Oct 2020

Keywords

  • Autism
  • Biomarker discovery
  • Metabolomics
  • Microbiome
  • Precise medicine
  • Study design

ASJC Scopus subject areas

  • Neuroscience(all)

Fingerprint Dive into the research topics of 'Genome, environment, microbiome and metabolome in autism (GEMMA) study design: Biomarkers identification for precision treatment and primary prevention of autism spectrum disorders by an integrated multi-omics systems biology approach'. Together they form a unique fingerprint.

Cite this