AUTISM AWARENESS WEEK: Introducing Genome, Environment, Microbiome and Metabolome in Autism (GEMMA) -project

AUTISM AWARENESS WEEK: Introducing Genome, Environment, Microbiome and Metabolome in Autism (GEMMA) -project

Bioinformatics-researchers from Tampere University are taking part in a large international research project focused on autism spectrum disorder (ASD). The project aims to improve personalized care and prevent the onset of ASD. Researchers at Tampere University are both analyzing the genome-wide data produced in this project, as well as developing new methods for said analysis in general.

The groundbreaking GEMMA-research project (Genome, Environment, Microbiome and Metabolome in Autism) aims determine the interplay between individual’s genome, epigenome, gut microbiome, metabolome and immune function, and their connection to environmental factors. The objective is to develop both diagnostics and prevention methods for ASD.

The project is collecting samples from hundreds of babies considered to be in the risk group for ASD, for extensive genome-wide tests. These babies are part of the study right from birth. The results obtained by analyzing the previously mentioned tests are combined with pre-clinical results, with the aim to build a mechanistic connection between human microbiome and the onset of ASD.

Biomarkers for ASD have not yet been found

The prevalence of ASD has increased by 40 times since the 1960’s, and its cost to society is nowadays bigger than cancer, cardiovascular diseases and stroke combined. One child in 59 now has some form of ASD, and children being born in families that already have one child with ASD have ten times the risk of developing the disorder.

So far, research has not found any biomarkers for ASD, and diagnosis are based on behavioural evaluation.

Thousands of variables are being studied simultaneously

Researchers at Tampere University are responsible for the analysis of the large amount of data produced in this project.

– The data produced in this project is being used to characterise potentially significant changes, which may affect the onset of autism, at a molecular level. These measurements enable analysis of thousands of variables, such as genes or microbes, simultaneously, says Senior Research Fellow Reija Autio from the Faculty of Social Sciences, Tampere University.

– Our job is to analyse the data, and more specifically, try to find connections between different data-types. Before this project we had already been doing similar analyses on, for instance, diabetes- and cancer-data sets, and now we can utilize these methods also on autism-research, Autio explains.

– Such multi-level analyses are still relatively new from a computational point of view, and there is no single standard for them yet, as analysis is affected by both the data-types used as well as the test-set up used in the study.

We strive to develop computational methods, which enable the determination of the types of connections between different data-types, and the importance of these connections for the onset of autism.

– The methods developed by us can be used in similar research questions, in other applications. The methods can therefore help in the research of other diseases as well, Autio says.

There are very few studies on autism

Autio and Professor Matti Nykter hope that such large-scale project will have a big impact on the study of autism. There is relatively little research on autism and ASD.

– The best-case scenario is that by using a data-driven approach, we can find connections that affect the onset of autism. If these connections can be identified, we can aim to influence them. We hope that the disorder could then be treated better than before, and even prevent its onset, Nykter states.

The five-year study includes 16 research collaborators from both Europe and USA. The project obtained funding for 14,2 million euros from the European Commission.

Project is coordinated by the European Biomedical Research Institute of Salerno (EBRIS) Foundation in Salerno, Italy.

Picture: Gemma researchers in Salerno, Italy in the spring of 2020 just before COVID-19 pandemic broke out.

For more information, please contact:
Reija Autio, Docent, PhD

+358 50 318 7364,

Professor Matti Nykter, Bioinformatics

+358 50 318 6869,