Nicolas Grillet, PhD, as part of our series looking at the past, present and future of the research in the SICHL labs, gives us a look at the state of the research in his, fairly new but very busy lab:

1) What has your lab learned about hearing/hearing loss over the last 5 years?

The Grillet lab started 2 years and a half ago, and the initial projects start to bear fruits. We are focusing on a gene called Loxhd1, which is responsible for a non-syndromic form of hearing loss. In patients, the hearing loss can have different onset and progressiveness. In order to understand the variation in the hearing loss in humans, we are using mouse models to study the effects of different mutation in this gene. We generated a new mouse model for Loxhd1, where we mimicked a human mutation by the introduction of a premature stop. Generally the presence of a premature stop triggers the degradation of the mRNA of the affected gene, and generates a loss-of-function situation. Surprisingly we discovered that this is not the case in our new mouse mutant. We are therefore analyzing the mRNA produced in our mouse model. The plasticity of the gene expression (the use of some specific part of the gene and not others) could be the molecular basis of the hearing impairment variability in humans mutated in LOXHD1.

2) What has been your lab’s biggest challenge?

Our biggest challenge has been to get all the different techniques in the lab rolling, and to find the best people to join us. We are now fully active at all levels!

3) What are your goals for the research in the coming 5 years?

Our goals are to understand the function of genes leading to deafness at the molecular level, in particular Loxhd1, but also to identify new genes leading to this condition.

2017-04-19T13:43:20+00:00