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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

Deliverables

Report on the participation to the IHMC congress in Barcelona 2020

Report on the outcomes of the participation of GEMMA at the 8th International Human Microbiome Congress in 2020 (Barcelona)

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

Mid-term recruitment report

Statistical data on the enrollment process in the 3 different recruitment sites: number of subjects who were included at each site (frequency counts and percentages based on the number of subjects contributing data into the study), subject discontinuations and departures from the study protocol

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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Publications

Mechanisms of Glucose Absorption in the Small Intestine in Health and Metabolic Diseases and Their Role in Appetite Regulation

Author(s): Lyudmila V. Gromova, Serguei O. Fetissov, Andrey A. Gruzdkov
Published in: Nutrients, 13/7, 2021, Page(s) 2474, ISSN 2072-6643
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/nu13072474

Network Diffusion Promotes the Integrative Analysis of Multiple Omics

Author(s): Noemi Di Nanni, Matteo Bersanelli, Luciano Milanesi, Ettore Mosca
Published in: Frontiers in Genetics, 11, 2020, ISSN 1664-8021
Publisher: Frontiers Media
DOI: 10.3389/fgene.2020.00106

Analysis of Faecal Microbiota and Small ncRNAs in Autism: Detection of miRNAs and piRNAs with Possible Implications in Host-Gut Microbiota Cross-Talk

Author(s): Chiappori F., Cupaioli F.A., Consiglio A., Di Nanni N., Mosca E., Licciulli V.F., Mezzelani A.
Published in: Nutrients, 14(7):1340, 2022 Mar 23, 2022, Page(s) 1-23, ISSN 2072-6643
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/nu14071340

Autonomic Nervous System Neuroanatomical Alterations Could Provoke and Maintain Gastrointestinal Dysbiosis in Autism Spectrum Disorder (ASD): A Novel Microbiome–Host Interaction Mechanistic Hypothesis

Author(s): Athanasios Beopoulos, Manuel Gea, Alessio Fasano, François Iris
Published in: Nutrients, 2021, ISSN 2072-6643
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/nu14010065

Assessment of haptoglobin alleles in autism spectrum disorders

Author(s): Cupaioli FA, Mosca E, Magri C, Gennarelli M, Moscatelli M, Raggi ME, Landini M, Galluccio N, Villa L, Bonfanti A, Renieri A, Fallerini C, Minelli A, Marabotti A, Milanesi L, Fasano A, Mezzelani A
Published in: Scientific Reports, 10(1):7758, 2020 May 8, 2020, Page(s) 1-11, ISSN 2045-2322
Publisher: Nature Publishing Group
DOI: 10.1038/s41598-020-64679-w

The Impact of Gut Microbiota-Derived Metabolites in Autism Spectrum Disorders

Author(s): Lucía N. Peralta-Marzal, Naika Prince, Djordje Bajic, Léa Roussin, Laurent Naudon, Sylvie Rabot, Johan Garssen, Aletta D. Kraneveld and Paula Perez-Pardo
Published in: International Journal of Molecular Sciences, Volume 22, Issue 18, 2021, semimonthly, 2021, ISSN 1422-0067
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms221810052

The Gut-Brain Axis in Autism Spectrum Disorder: A Focus on the Metalloproteases ADAM10 and ADAM17

Author(s): Yuanpeng Zheng, Tessa A. Verhoeff, Paula Perez Pardo, Johan Garssen and Aletta D. Kraneveld
Published in: International Journal of Molecular Sciences, volume 22, issue 1, 2021, semimonthly, 2021, ISSN 1422-0067
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms22010118

Autism Spectrum Disorders: Analysis of Mobile Elements at 7q11.23 Williams–Beuren Region by Comparative Genomics

Author(s): Francesca Anna Cupaioli, Chiara Fallerini, Maria Antonietta Mencarelli, Valentina Perticaroli, Virginia Filippini, Francesca Mari, Alessandra Renieri, Alessandra Mezzelani
Published in: Genes, 12/10, 2021, Page(s) 1605, ISSN 2073-4425
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/genes12101605

Characterization and comparison of gene-centered human interactomes

Author(s): Ettore Mosca, Matteo Bersanelli, Tommaso Matteuzzi, Noemi Di Nanni, Gastone Castellani, Luciano Milanesi, Daniel Remondini
Published in: Briefings in Bioinformatics, 2021, ISSN 1467-5463
Publisher: Oxford University Press
DOI: 10.1093/bib/bbab153

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

Author(s): 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 Mannion, Elise Maximin, Alessandra Mezzelani, Luciano Milanesi, Lau
Published in: Brain Sciences, 10/10, 2020, Page(s) 743, ISSN 2076-3425
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/brainsci10100743

Gut Reactions: How Far Are We from Understanding and Manipulating the Microbiota Complexity and the Interaction with Its Host? Lessons from Autism Spectrum Disorder Studies

Author(s): Martina Lombardi, Jacopo Troisi
Published in: Nutrients, 13/10, 2021, Page(s) 3492, ISSN 2072-6643
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/nu13103492

Change of Communication Strategy to Increase Engagement during the SARS-Cov-2Pandemic: The Experience of the European GEMMA Project in Italy

Author(s): Cupaioli Francesca Anna, Corrivetti Giulio, Tamburro Ilaria, Fasano Alessio, Mezzelani Alessandra
Published in: International Journal of Humanities, Social Sciences and Education, 7/9, 2020, ISSN 2349-0381
Publisher: ARC Publications Pvt Ltd
DOI: 10.20431/2349-0381.0709013

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, 20/13, 2019, Page(s) 3363, ISSN 1422-0067
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
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, 8/2, 2019, Page(s) 217, ISSN 2077-0383
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/jcm8020217

Role of the Gut Microbiota in the Pathophysiology of Autism Spectrum Disorder: Clinical and Preclinical Evidence

Author(s): Léa Roussin, Naika Prince, Paula Perez-Pardo, Aletta D. Kraneveld, Sylvie Rabot, Laurent Naudon
Published in: Microorganisms, 8/9, 2020, Page(s) 1369, ISSN 2076-2607
Publisher: MDPI
DOI: 10.3390/microorganisms8091369

Gene relevance based on multiple evidences in complex networks

Author(s): Noemi Di Nanni, Matteo Gnocchi, Marco Moscatelli, Luciano Milanesi, Ettore Mosca
Published in: Bioinformatics, 2019, ISSN 1367-4803
Publisher: Oxford University Press
DOI: 10.1093/bioinformatics/btz652