GEMMA will study the interaction between the genome, the epigenome, the microbiome, the metabolome and the immune functions of the individual as well as their relation to environmental factors.
Building a better understanding
The goal of the project is to develop both diagnostic and prevention diagnostics, and gain a better understanding of how and who develops ASD.
The study will collect samples from six hundred children at risk for developing Autism Spectrum Disorders (ASD) in Italy, Ireland and the U.S. over a 5-year period – along with environmental data. Scientists will study the interaction of the gut microbiome and its related mechanisms with the intestinal barrier and immune response.
What is our role?
Euformatics’ role is to conduct the analysis of Whole Genome Sequence (WGS) samples from the GEMMA cohorts around the world. Our omnomicsNGS variant interpretation tool is used to annotate and interpret samples, and compare different patient cohorts. In doing so, it will take into account an ever-expanding knowledge bank about the clinical significance of variants and chromatin methylation patterns, rare genetic disorders, population-specific allele frequencies, structure conservation between species, biological processes, and molecular pathways.
In addition, our omnomicsQ quality control tool is used to automatically run sample-specific QC on all genomic (NGS) sequence data generated during the project. This will ensure that all the data used is of the highest quality possible and bring further credibility to the results of the study.
While the omnomics Suite products are primarily designed for clinical usage, they are flexible enough to be applied to other situations too, such as large-scale research projects that include human genomic data.
Bringing together scientists from around the world
The project brings together a group of organisations from around the world. Participants include scientists and companies from:
- Johns Hopkins University (US)
- Imperial College London (UK)
- Massachusetts General Hospital for Children (US)
- European Biomedical Research Institute of Salerno (IT)
- Nutricia Research (NL)
- Medinok (IT)
- Bio-Modeling Systems (FR)
- Theoreo SRL (IT)
- National University of Ireland Galway (IE)
- Azienda Sanitaria Locale Salerno (IT)
- Consiglio Nazionale delle Ricerche (IT)
- Institut National de la Recherche Agronomique (FR)
- The French National Institute of Health and Medical Research (FR)
- Utrecht University (NL)
- Tampere University (FI)
Total funding for the GEMMA project is EUR 14 million (USD 16.6 million).
The Omnomics Suite
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