ESPOO, Finland, October, 2018. – Finnish bioinformatics company, Euformatics has received 0.7 million Euros from the EU Horizon 2020 programme to participate in GEMMA, a groundbreaking international autism research project aimed at developing individualized care and preventing the onset of Autism Spectrum Disorders (ASD). The company is responsible for providing the genomic data software infrastructure to be used for variant interpretation and quality monitoring of the NGS data.

Autism spectrum disorders

ASD affect about 1 in 68 children around the globe. In children born to families with one child already suffering from ASD, the risk is tenfold. A study by the London School of Economics has found the societal costs of ASD to exceed that of cancer, heart disease and stroke combined. So far, however, treatments to prevent or reduce the chance of autism have not been found.

Goal of the project

The pioneering GEMMA project (Genome, Environment, Microbiome and Metabolome in Autism), coordinated by the European Biomedical Research Institute of Salerno (EBRIS) Foundation in Salerno, Italy aims to change the poor situation for ASD patients and parents. The project will employ experts from the U.S. and Europe in genomics, the microbiome, metabolomics, epidemiology, animal research models, clinical study design, biostatistics, bioinformatics and artificial intelligence to build mathematical models to predict who will develop ASD.

In the GEMMA research project, the interaction between the genome, the epigenome, the microbiome, the metabolome and the immune functions of the individual and their relation to environmental factors will be investigated. The goal of the project is to develop both diagnostic and prevention diagnostics.

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.

Task of Euformatics

Euformatics’ role is to support the exome/genome analysis, variant interpretation and comparison of patient cohorts, taking into account cumulating knowledge about clinical significance of variants and chromatin methylation patterns, rare genetic disorders, population-specific allele frequencies, structure conservation between species, biological processes, and molecular pathways.

The company is additionally responsible for the quality monitoring of the genomic (NGS) sequence data of the project.

-”If our experience in the area of NGS data QC, validation and standardization has taught us anything it’s garbage in, garbage out” says Euformatics CSO, Christophe Roos. “We are therefore pleased that GEMMA includes a strict quality control according to best diagnostics practice guidelines on all genomic data that we will enter into the analytic pipeline for variant interpretations and much more.”

-”This is not only about the impact that can be made in the field of autism research but also the difference that research can make in the lives of the parents and children affected by ASD” says Euformatics Business Development Manager, Allyana Thomas.

The GEMMA project envisions a world in which a twelve-month old child who, as the sibling of an autistic child, can have the appropriate sequencing, gut permeability testing, immune profiling and -omics analyses performed to assess her risk for developing ASD. What if three months from that date the worrying results of the risk analysis had been reversed thanks to a personalized preventative process, possibly as simple as by modifying the diet, and that her sibling suffering from ASD could also receive personalized treatment to reduce their symptoms? “Such a change in the treatment and prevention of ASD has a major impact on the lives and futures of these families” says Thomas. “We want to be a part of that future.”

About Euformatics

Euformatics is an SME focusing on the quality management and analysis of genomic and transcriptomic next generation sequence data. Euformatics has a strong RnD activity and develops both cloud-based and local enterprise solutions (omnomicsQomnomicsVomnomicsNGS) combining a database platform with computational analysis functionality. omnomicsNGS offers a comprehensive configurable genome variant interpretation support and reporting environment for the needs of clinical research and molecular pathology and genetics diagnostic laboratories. Euformatics is a pioneer in the NGS data quality harmonisation and standardisation. The company has been partnered with EQA providers EMQN and GenQA (formerly UK NEQAS for Molecular Genetics) in their NGS EQA program since 2015. Euformatics provides support for the data gathering, data validation, results analysis and visualization of QC metrics based on omnomicsQ.


GEMMA participants include scientists and companies 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. Total funding for the GEMMA project is EUR 14 million (USD16.6 million).

Media contact: Allyana Thomas,
+358 (0) 400 359 846 / +358 (0) 449 900 909

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