Inserm Research Director Emmanuelle Génin has helped draw up the French Plan for Genomic Medicine 2025. In her laboratory, she works to make it a reality, ensuring that genome sequencing will become an effective clinical diagnostic tool.
At the Université de Bretagne Occidentale in Brest where she runs the Genetics, Functional Genomics and Biotechnology laboratory*, Emmanuelle Génin is working on a filter needed to analyze a patient's genome: a database representing the genomes of French people.
This panel is essential in order to identify the genetic variations involved in disease. There are many genetic differences between humans. Most of them are neutral with no links to disease, so it is essential that we identify them to be able to eliminate them when we analyze a patient's genome with the aim of detecting an anomaly that may play a role in their disease or their response to treatment.
To date, Emmanuelle Génin has studied the genomes of 574 people.
*Inserm unit 1078/UBO/EFS-CHRU Brest