- Congratulations for receiving the international Sisley-Jérôme Lejeune Award! What does this award mean to you?
As most researchers, I did not work for glory! It is nevertheless an incredible feeling to receive such recognition for all these efforts and for everything I have worked so hard for during my entire life! I find it hard to find the words…
- Professor Lejeune came up with quite a few scientific hypothesis in therapeutic approaches for Down Syndrome based on clinical observations. In what way is this kind of approach so important ?
It is absolutely essential and that it why we are developing murine models. Actually, we are carrying on what he started. We have found genetic bases and then developed mice models using those genetic bases and, from there, we try to identify how these genetic bases express, which we call phenotypes at the laboratory but would call clinical sign in a person. Thus, we have efficient modelling tools for the disease.
- You were a pioneer in the creation of mouse models for Down Syndrome. What do you gain in studying these models ?
The genetic bases of these models are defined thanks to our knowledge of human and mouse genomes. We now have Down Syndrome mouse models for all genes, or nearly, present in triplicate in the patients. These Down Syndrome models help us to better understand the effects of various genes in the development of the patients, as well as their function.
- What are your hopes concerning research on Down Syndrome ?
I wish difficulties faced by patients carriers of Down Syndrome to be normalized. There are many effects related to the disease and the method that has proved the most effective until now and that leads to clinical trials is the one that consists in concentrating one such or such aspect of Down Syndrome. Intellectual disability is one of the main aspects on which we stay focused. It is the subject of the ongoing clinical trials.
- What motivates you to work on Down Syndrome.
When I started working on Down Syndrome, I was very young and I thought that it was the most complicated genetic problem. I said to myself… if I can do something for that cause… it could be good! Meeting the people involved was also a determining factor. It really does change one’s perspectives. It leads one to think more widely. And there is so many aspects to consider… There is, indeed, enough to spend one’s whole life working one the subject!