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Wendy Klag Center for Autism & Developmental Disabilities

GEMMA: Multi-Omics Research in ASD

Researchers associated with the Wendy Klag Center for Autism and Developmental Disabilities are part of a new European initiative to identify treatment and prevention targets for autism spectrum disorder (ASD). The five-year project, called GEMMA (Genome, Environment, Microbiome and Metabolome in Autism), began Jan. 1, 2019.

The consortium, co-led by Alessio Fasano, MD, director of the Ebris Foundation (Italy) and the Mucosal Immunology and Biology Research Center  and chief of the Division of Pediatric Gastroenterology and Nutrition at MassGeneral Hospital for children, will employ experts in genomics, the microbiome, metabolomics, epidemiology, animal research models, clinical study design, biostatistics and artificial intelligence to build mathematical models to predict who will develop ASD. Wendy Klag Center Director M. Daniele Fallin, PhD, and affiliated faculty member Chris Ladd-Acosta, PhD, are involved with GEMMA. Their role is to conduct epigenetics measurements on the samples and help integrate these data with other   “-omics” data, such as genomics, metabolomics, and proteomics.  “We are excited to contribute to this important study that seeks to identify biomarkers, at the earliest stages of infancy and childhood, that predict later ASD diagnoses and optimal interventions,” Ladd-Acosta says. 

Researchers plan to enroll 1,600 infants at risk of developing ASD at centers in Italy, Ireland, and the United States. Infants will be followed very closely from birth, to monitor their progress toward the possible onset of ASD. Collecting stool, tissue and blood samples from children over a five-year period – along with environmental data – scientists will study the interaction of the gut microbiota and its related mechanisms with the intestinal barrier and immune response. The goal of GEMMA is to identify biomarkers – measurable changes in the gut microbiota – that could predict development of ASD in genetically predisposed infants.

GEMMA participants include scientists from the European Biomedical Research Institute of Salerno, Nutricia Research, Medinok, Bio-Modeling Systems, Euformatics, Theoreo SRL, National University of Ireland Galway, Azienda Sanitaria Locale Salerno, Consiglio Nazionale delle Ricerche, Institut National de la Recherche Agronomique, the French National Institute of Health and Medical Research, Utrecht University, Tampere University, Imperial College London, John Hopkins University, and Massachusetts General Hospital for Children.