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:

Total funding for the GEMMA project is EUR 14 million (USD 16.6 million).

The Omnomics Suite

You can read more about our products by clicking on the links below. Find out how they could bring value to your operations, be they clinical or research.

Find out more about omnomicsQ Find out more about omnomicsNGS

Find out more

You can read an overview of the study, including the planned phases groups and methodologies free of charge in Pubmed by clicking below.

You can also read previous updates on our participation in GEMMA from our press releases.


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