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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

CORDIS provides links to public deliverables and publications of HORIZON projects.

Links to deliverables and publications from FP7 projects, as well as links to some specific result types such as dataset and software, are dynamically retrieved from OpenAIRE .

Deliverables

Report on the participation to the IHMC congress in Barcelona 2020 (opens in new window)

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

Final clinical protocols (opens in new window)

Study protocols to submit for the approbation to the ethical committee

Pre-clinical study 2 report (opens in new window)

A report providing the results of the trial 2 to investigate if the ASD phenotype is dependent on microbiome-induced systemic immune activation, via adoptive splenocyte transfer studies

Theoretical qualitative models of ASD pathogenesis mechanisms (opens in new window)

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 3/2 report (opens in new window)

A second 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

Pre-clinical study ethical approval report (opens in new window)

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

Pre-clinical study 1 report (opens in new window)

A report providing the results of the the trial 1 focus on exploring if the behavioural phenotype of ASD patients is transferrable to mice via faecal transplantation

Genome, epigenome and immune function interplay summary of hypothesis (opens in new window)

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

Pre-clinical study 3/3 report (opens in new window)

A third 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

Updated state of the art report (opens in new window)

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 (opens in new window)

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 (opens in new window)

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) (opens in new window)

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.

Second release of the multi-omics platform (observational trials) (opens in new window)

An analysis of the fitting between the correlations put forward by the multi-omics analyses and the biological outcome of the interventional part of the observational study

OmnomicsNGS v2 release (opens in new window)

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

External project website (opens in new window)

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

Publications

An integrative network analysis framework for identifying molecular functions in complex disorders examining major depressive disorder as a test case. (opens in new window)

Author(s): Oommen AM, Cunningham S, O'Súilleabháin PS, Hughes BM, Joshi L
Published in: Scientific Reports, Issue (2021) 11:9645, 2021, ISSN 2045-2322
Publisher: Nature Publishing Group
DOI: 10.1038/s41598-021-89040-7

Neurotensin-Binding Immunoglobulin G in Patients with Parkinson’s Disease (opens in new window)

Author(s): Muruzheva ZM, Egorov DS, Absalyamova MT, Traktirov DS, Karpenko MN, and Fetissov SO
Published in: Neuroimmunomodulation, Issue 30(1), 2023, Page(s) 15-27, ISSN 1021-7401
Publisher: S. Karger AG
DOI: 10.1159/000527872

Mechanisms of Glucose Absorption in the Small Intestine in Health and Metabolic Diseases and Their Role in Appetite Regulation (opens in new window)

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

Prebiotic diet normalizes aberrant immune and behavioral phenotypes in a mouse model of autism spectrum disorder (opens in new window)

Author(s): Naika Prince, Lucia N Peralta Marzal, Anastasia Markidi, Sabbir Ahmed, Youri Adolfs, R Jeroen Pasterkamp, Himanshu Kumar, Guus Roeselers, Johan Garssen, Aletta D Kraneveld, Paula Perez-Pardo
Published in: Acta Pharmacologica Sinica, Issue 45, 2024, Page(s) 1591-1603, ISSN 1671-4083
Publisher: Shanghai Institute of Materia Medica
DOI: 10.1038/s41401-024-01268-x

Network Diffusion Promotes the Integrative Analysis of Multiple Omics (opens in new window)

Author(s): Noemi Di Nanni, Matteo Bersanelli, Luciano Milanesi, Ettore Mosca
Published in: Frontiers in Genetics, Issue 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 (opens in new window)

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

Microbiota influence on behavior: Integrative analysis of serotonin metabolism and behavioral profile in germ‐free mice (opens in new window)

Author(s): Léa Roussin, Elisa Gry, Mira Macaron, Sandy Ribes, Magali Monnoye, Véronique Douard, Laurent Naudon, Sylvie Rabot
Published in: The FASEB Journal, Issue 38, 2024, ISSN 0892-6638
Publisher: Federation of American Societies for Experimental Biology
DOI: 10.1096/fj.202400334r

The interaction between intestinal bacterial metabolites and phosphatase and tensin homolog in autism spectrum disorder (opens in new window)

Author(s): Zheng Y, Prince N, van Hattem C, Garssen J, Pardo PP, Kraneveld AD
Published in: Molecular and Celullar Neuroscience, Issue Dec 30;124:103805, 2023, Page(s) 1-11, ISSN 1044-7431
Publisher: Academic Press
DOI: 10.1016/j.mcn.2022.103805

The role of bacterial-derived aromatic amino acids metabolites relevant in autism spectrum disorders: A comprehensive review (opens in new window)

Author(s): Yuanpeng Zheng, Marie K Bek, Naika Z Prince, Lucia N Peralta Marzal, Johan Garssen, Paula Perez Pardo, Aletta D Kraneveld
Published in: Frontiers in Neuroscience, Issue October, 2021, Page(s) 1401, ISSN 1662-453X
Publisher: Frontiers
DOI: 10.3389/fnins.2021.738220

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

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 (opens in new window)

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, Issue 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

Lactobacillus salivarius and Lactobacillus gasseri supplementation reduces stress-induced sugar craving in mice (opens in new window)

Author(s): Nicol M., Lahaye E., El Mehdi M., do Rego J.-L., do Rego J.-C., Fetissov S.O.
Published in: European Eating Disorders Review, 2023, ISSN 1099-0968
Publisher: Wiley
DOI: 10.1002/erv.3004

The Impact of Gut Microbiota-Derived Metabolites in Autism Spectrum Disorders (opens in new window)

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, Issue 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 (opens in new window)

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

The Autism Spectrum Disorder-Associated Bacterial Metabolite p-Cresol Derails the Neuroimmune Response of Microglial Cells Partially via Reduction of ADAM17 and ADAM10 (opens in new window)

Author(s): Zheng, Y.; Prince, N.Z.; Peralta Marzal, L.N.; Ahmed, S.; Garssen, J.; Perez Pardo, P.; Kraneveld, A.D.
Published in: Int J Mol Sci, Issue Sep 20;23(19):11013, 2022, Page(s) 1-17, ISSN 1422-0067
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms231911013

Autism Spectrum Disorders: Analysis of Mobile Elements at 7q11.23 Williams–Beuren Region by Comparative Genomics (opens in new window)

Author(s): Francesca Anna Cupaioli, Chiara Fallerini, Maria Antonietta Mencarelli, Valentina Perticaroli, Virginia Filippini, Francesca Mari, Alessandra Renieri, Alessandra Mezzelani
Published in: Genes, Issue 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 (opens in new window)

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

A robust microbiome signature for autism spectrum disorder across different studies using machine learning (opens in new window)

Author(s): Lucia N. Peralta-Marzal, David Rojas-Velazquez, Douwe Rigters, Naika Prince, Johan Garssen, Aletta D. Kraneveld, Paula Perez-Pardo, Alejandro Lopez-Rincon
Published in: Scientific Reports, Issue 14, 2024, ISSN 2045-2322
Publisher: Nature Publishing Group
DOI: 10.1038/s41598-023-50601-7

Protein extract of a probiotic strain Hafnia alvei and bacterial ClpB protein improve glucose tolerance in mice (opens in new window)

Author(s): Zolotarev V.A., Murovets V.O., Sepp A.L., Sozontov E.A., Lukina E.A., Khropycheva R.P., Pestereva N.S., Ivleva I.S., El Mehdi M., Lahaye E., Chartrel N., Fetissov S.O.
Published in: International Journal of Molecular Sciences, Issue 24(13), 10590, 2023, ISSN 1422-0067
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms241310590

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 (opens in new window)

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, Issue 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 (opens in new window)

Author(s): Martina Lombardi, Jacopo Troisi
Published in: Nutrients, Issue 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 (opens in new window)

Author(s): Cupaioli Francesca Anna, Corrivetti Giulio, Tamburro Ilaria, Fasano Alessio, Mezzelani Alessandra
Published in: International Journal of Humanities, Social Sciences and Education, Issue 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 (opens in new window)

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
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms20133363

Role of the Gut Microbiota in the Pathophysiology of Autism Spectrum Disorder: Clinical and Preclinical Evidence (opens in new window)

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

Blood levels of neuropeptide 26RFa in relation to anxiety and aggressive behavior in humans - an exploratory study (opens in new window)

Author(s): Værøy H., Takhlidjt S., Cherifi Y., Lahaye E., Chartrel N., Fetissov S.O.
Published in: Brain Sciences, Issue 13(2), 237, 2023, ISSN 2076-3425
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/brainsci13020237

Immunoglobulin G is a natural oxytocin carrier which modulates oxytocin receptor signaling - relevance to aggressive behavior in humans (opens in new window)

Author(s): Værøy H., Lahaye E., Dubessy C., Benard M., Nicol M., Cherifi Y., Takhlidjt S., do Rego J.-L., do Rego J.-C., Chartrel N., Fetissov S.O.
Published in: Discover Mental Health, Issue Oct 19;3(1):21, 2023, Page(s) Volume 3, article number 21, ISSN 2731-4383
Publisher: Springer
DOI: 10.1007/s44192-023-00048-z

Autism spectrum disorders pathogenesis: Toward a comprehensive model based on neuroanatomic and neurodevelopment considerations (opens in new window)

Author(s): Beopoulos A, Géa M, Fasano A, Iris F
Published in: Frontiers in neuroscience, Issue Nov 03 3;16:988735, 2022, Page(s) 1-24, ISSN 1662-453X
Publisher: Frontiers
DOI: 10.3389/fnins.2022.988735

Mouse strain-specific responses along the gut-brain axis upon fecal microbiota transplantation from children with autism (opens in new window)

Author(s): Naika Prince, Lucia N. Peralta Marzal, Léa Roussin, Magali Monnoye, Catherine Philippe, Elise Maximin, Sabbir Ahmed, Karoliina Salenius, Jake Lin, Reija Autio, Youri Adolfs, R. Jeroen Pasterkamp, Johan Garssen, Laurent Naudon, Sylvie Rabot, Aletta D. Kraneveld, Paula Perez-Pardo
Published in: Gut Microbes, Issue 17, 2025, ISSN 1949-0976
Publisher: Landes Bioscience
DOI: 10.1080/19490976.2024.2447822

Gene relevance based on multiple evidences in complex networks (opens in new window)

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

Transcriptomic Analysis of Respiratory Tissue and Cell Line Models to Examine Glycosylation Machinery during SARS-CoV-2 Infection (opens in new window)

Author(s): Oommen A, Cunningham S, Joshi L.
Published in: Viruses, Issue Jan 8;13(1):82, 2021, Page(s) 1-15, ISSN 1999-4915
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/v13010082

Food, nutrition, and autism: from soil to fork (opens in new window)

Author(s): Melissa Maitin-Shepard, Perrie O’Tierney-Ginn, Aletta D Kraneveld, Kristen Lyall, Daniele Fallin, Manish Arora, Alessio Fasano, Noel T Mueller, Xiaobin Wang, Laura E Caulfield, Aisha S Dickerson, Rochellys Diaz Heijtz, Tomo Tarui, Jeffrey B Blumberg, Calliope Holingue, Rebecca J Schmidt, Johan Garssen, Katherine Almendinger, Pi-I Debby Lin, Dariush Mozaffarian
Published in: The American Journal of Clinical Nutrition, Issue 120, 2025, Page(s) 240-256, ISSN 0002-9165
Publisher: American Society for Clinical Nutrition, Inc.
DOI: 10.1016/j.ajcnut.2024.04.020

Genome, Environment, Microbiome and Metabolome in Autism (GEMMA) Study: Beyond biomarker identification for the precision treatment and early detection of autism spectrum disorders (opens in new window)

Author(s): J. Troisi, M. Lombardi, SJK Symes, G. Scala, M. Delli Carri, SM Richards & GEMMA Consortium
Published in: Bioinformatics and Computational Biology Conference, 2022
Publisher: F1000 Research
DOI: 10.7490/f1000research.1119307.1

Progress in the Puzzle Resolution: The Molecular Genetics Underpinning Autism Spectrum Disorders (opens in new window)

Author(s): Mezzelani A, Cupaioli F.A.
Published in: Brain Science, Issue 2023 Dec 7;13(12):1688, 2023, ISSN 2076-3425
Publisher: MDPI
DOI: 10.3390/brainsci13121688

Plasma and Fecal Metabolite Profiles in Autism Spectrum Disorder (opens in new window)

Author(s): Brittany D. Needham, Mark D. Adame, Gloria Serena, Destanie R. Rose, Gregory M. Preston, Mary C. Conrad, A. Stewart Campbell, David H. Donabedian, Alessio Fasano, Paul Ashwood, Sarkis K. Mazmanian
Published in: Journal Biological Psychiatry, Issue Volume 89, Issue 5, 2021, Page(s) 451-462, ISSN 0006-3223
Publisher: Elsevier
DOI: 10.1016/j.biopsych.2020.09.025

Gut Microbiota-Brain Axis in Regulation of Feeding Behavior (opens in new window)

Author(s): Fetissov SO
Published in: Microorganisms, Issue 11(3), 749, 2023, ISSN 2076-2607
Publisher: MDPI
DOI: 10.3390/microorganisms11030749

Zonulin-Dependent Intestinal Permeability in Children Diagnosed with Mental Disorders: A Systematic Review and Meta-Analysis (opens in new window)

Author(s): Asbjornsdottir, B.; Snorradottir, H.; Andresdottir, E.; Fasano, A.; Lauth, B.; Gudmundsson, L.S.; Gottfredsson, M.; Halldorsson, T.I.; Birgisdottir, B.E.
Published in: Nutrients, Issue Jul 3;12(7):1982, 2020, Page(s) 1-27, ISSN 2072-6643
Publisher: MDPI
DOI: 10.3390/nu12071982

Optimization of Peripheral Blood Mononuclear Cell Extraction from Small Volume of Blood Samples: Potential Implications for Children-Related Diseases (opens in new window)

Author(s): Patrone, D.; Alessio, N.; Antonucci, N.; Brigida, A.L.; Peluso, G.; Galderisi, U.; Siniscalco, D.
Published in: Journal Methods Protoc, Issue Feb 24;5(2):20, 2022, Page(s) 1-6, ISSN 2409-9279
Publisher: MDPI
DOI: 10.3390/mps5020020

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