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Genomics: exploring biodiversity and personalizing medicine

Published on 29 November 2017

Researchers at the Genoscope and the National Human Genome Research Center (CNRGH) in Évry work to decipher and interpret genomes. 

A sequencing force

The scientists at the Genoscope and the CNRGH respond to the high throughput sequencing and genotyping needs of the French scientific community as a whole. They therefore participate in the genome sequencing of many plant (orange tree, coffee bush, cacao tree, banana, rapeseed, wheat, etc.) and animal species (trout, mammoth, etc.). This is a crucial step towards progress in the field of agronomy, as well as in understanding evolution.

Exploring biodiversity

The Genoscope teams also contribute to the discovery of previously unknown microscopic organisms. Indeed, microbial diversity is poorly understood since certain microorganisms are impossible to isolate and cultivate. To study the biodiversity of an environment, the Genoscope teams resort to metagenomics. Enabled by the development of new sequencing technologies as well as by the increase in bioinformatics data processing capacities, this technique consists in sequencing the genome of all organisms in a sample from a given environment, all at once. This can include samples from a wastewater treatment plant, the oceans of the globe (Tara Oceans mission), or the intestinal flora of an individual. These studies make it possible to reconstruct the genomes of little-known organisms, to study the interdependence of these individuals within an ecosystem, and to increase our knowledge of biodiversity.            

Sequencer room at the National Human Genomics Research Center (CNRGH) , in Évry.©F.Rhodes/CEA

The study of microorganisms as a path to green chemistry

Studying and interpreting the genome of these organisms and their metabolism opens up a field of knowledge regarding the chemical reactions that they produce. Living organisms have the particularity of knowing how to synthesize molecules at room temperature and in neutral environments such as water. For this purpose, they are equipped with outstanding catalysts: enzymes, which are proteins that accelerate chemical reactions and guarantee their selectivity. The genomic analysis of biodiversity conducted at the Genoscope and a thorough understanding of the metabolism of these microorganisms helps to inventory these enzymes. Their functions are then tested to see if they can be involved in a clean-up process, or even to replace an industrial process that uses toxic products or that has low energy efficiency.

Using genomics to understand human diseases

The teams of the CNRGH also contribute to research in the genetics and genomics of human diseases. Using DNA samples from large cohorts of volunteer patients, the researchers focus on genetic variations (i.e. the genome) and their expression (i.e. the transcriptome) as well as other transmissible traits (i.e. epigenetics), in order to better understand pathologies such as Alzheimer's disease, autoimmune diseases, infectious diseases, rare diseases, and various cancers (breast, prostate, kidney, etc.). This body of research contributes to the development of personalized medicine, which takes into account the specificities of the pathology, the patient, and his or her reaction to the treatment.

A national infrastructure for genomics

The Genoscope and the CNRGH coordinate France Génomique, financed by the Investissements d’Avenir program. This “Infrastructure Nationale en Biologie et Santé” (National Infrastructure in Biology and Health) offers the national and international scientific communities expertise and high value-added services in genomics and associated bioinformatics, by bringing together most of the main French genomics facilities (sequencing and/or bioinformatics). The facilities of France Génomique are also able to offer, thanks to their expertise, all of the necessary assistance in project design and data mining strategy.