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Genome, Environment, Microbiome & Metabolome in Autism: an integrated multi-omic systems biology approach to identify biomarkers for personalized treatment and primary prevention of Autism Spectr


Final clinical protocols

Study protocols to submit for the approbation to the ethical committee

Theoretical qualitative models of ASD pathogenesis mechanisms

A model specifically detail the mechanisms whereby alterations in gut microbiome may lead to persistent, low-grade feverless systemic inflammation and how this could then affect CNS metabolism and neuronal arborescence preferentially in male developing infants

Pre-clinical study ethical approval report

A study protocol to submit for the approbation to the ethical committee

Genome, epigenome and immune function interplay summary of hypothesis

An hypothesis regarding how the genome/metagenome interplay is responsible for the switch from immune tolerance to immune response to environmental stimuli (antigens) including dietary and microbial factors leading to neuroinflammation responsible of behavioural changes that characterize ASD and gut inflammation causing its GI co-morbidities

Updated state of the art report

Report providing a brief relation about the state of the art in the ASD biomarker and therapy

Microbiome, metabolome and immune function interplay summary of hypothesis

An hypothesis regarding how the gut bacterial dysbiosis leads to epigenetic modifications, changes in metabolic profiles, increased gut permeability, increased antigen trafficking and, ultimately to altered immune responses to promote disease in a subset of individuals at-risk of ASD

Pre-clinical study 3/1 report

A first report providing the results of trial 3 to establish whether correction of dysbiosis by pre/pro/symbiotic intervention prevents and/or treats increased the impaired gut permeability, changes in metabolic profile, modification of the immune response, and, ultimately, the onset of ASD behavioural symptoms in humanized murine models of ASD (mice transplanted with faecal bacterial content of ASD patient donor sample

First release of the multi-omics platform (pre-clinical trials)

An algorithms able to associate various biomarker levels observed in infants with ASD and GI symptoms. This alghorithm will use advanced statistical analysis methods such as sparse canonical correlation (a linear correlation method) combined with random forests (a non-linear correlation method) to detect these associations between the omics data.

OmnomicsNGS v2 release

A new relase of the software OmnomicsNGS including a tool for dynamic variant analysis and interpretation

Open data management plan

GEMMA participation on H2020 open data pilot

External project website

Project website: project description, public deliverables, scientific news, other

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Network-Based Integrative Analysis of Genomics, Epigenomics and Transcriptomics in Autism Spectrum Disorders

Author(s): Noemi Di Nanni, Matteo Bersanelli, Francesca Anna Cupaioli, Luciano Milanesi, Alessandra Mezzelani, Ettore Mosca
Published in: International Journal of Molecular Sciences, Issue 20/13, 2019, Page(s) 3363, ISSN 1422-0067
DOI: 10.3390/ijms20133363

Risk and Protective Environmental Factors Associated with Autism Spectrum Disorder: Evidence-Based Principles and Recommendations

Author(s): Leonardo Emberti Gialloreti, Luigi Mazzone, Arianna Benvenuto, Alessio Fasano, Alicia Garcia Alcon, Aletta Kraneveld, Romina Moavero, Raanan Raz, Maria Pia Riccio, Martina Siracusano, Ditza A. Zachor, Marina Marini, Paolo Curatolo
Published in: Journal of Clinical Medicine, Issue 8/2, 2019, Page(s) 217, ISSN 2077-0383
DOI: 10.3390/jcm8020217