Fundamental Research Division
The DRF at the CEA assemble approximately 6,000 scientists since January 2016.
Scientific result | Simulation ＆ modelling | Genetic diseases
The cow could be a relevant model to study human genetic abnormalities, as demonstrated in an international study involving scientists from the François-Jacob Institute.
In collaboration with ALLICE, the François-Jacob Institute at CEA and VetAgroSup, an international team led by INRA has shown that, in bovine, the study of mutations responsible for rare syndromes also found in humans is an interesting alternative to laboratory animals for confirmation of the genetic origin of these diseases and determination of the underlying molecular mechanisms.
In particular, the researchers performed clinical examinations and observed perfect genotype-phenotype correlations between bovine cases and human patients with mutations in the same domains of the same proteins, demonstrating that the cow could be a relevant model to study genetic abnormalities in humans. They also provide evidence that the bovine model, in some cases, may be more relevant than the murine model, which sometimes expresses attenuated phenotypes.
This result was the subject of a press release.
Rapid Discovery of De Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model Species | Scientific reports
CEA is a French government-funded technological research organisation in four main areas: low-carbon energies, defense and security, information technologies and health technologies. A prominent player in the European Research Area, it is involved in setting up collaborative projects with many partners around the world.