"Trying to better treat and prevent the complications of the disease" by Prof. Catherine Boileau

Capsule, 2018 /Friday, June 8th, 2018

1. can you introduce yourself?

I'm Catherine Boileau. I am a geneticist and I run the Department of Genetics at the Bichat hospital in Paris.

2. can you explain to us what is the project 101 genomes Marfan?

The P101GM consists in achieving, for the first time, in a selected number from 101 Marfan patients, a complete sequencing of the genome, thus of the hereditary material that the Marfans carry. So it's really very innovative and we expect a lot.

3. Why did you agree to be part of the Scientific Committee of the project 101 genomes Marfan of the Fondation 101 Génomes ?

As a geneticist, I have been working on Marfan syndrome for a long time. The initial question that arose a long time ago was: " What is responsible for Marfan syndrome? ». This question was answered in the early 90 years when it was shown that mutations in the gene coding the protein called fibrillin 1 are responsible for the disease.

In answering this question, we could propose to make a diagnosis in the laboratory. But little by little, we realized that with this diagnosis, we had made a big step but that we could not answer the question: what is going to be the form of the disease, what will the person carrying the mutation inherited , is it going to be serious, not serious, etc.?

And that's really the challenge right now: it's trying to understand what makes one person to another, the disease will not have the same severity. It is very important not only to follow the sick and to follow them better and to know which one will have to follow very closely but also to try perhaps, having understood, to have more effective medicines that will allow better treatment and prevent complications of the disease.

4. as a scientist, what do you expect from project 101 genomes Marfan?

Of course, expectations are those of patients. As a researcher and person involved in the diagnosis, my expectation is to better understand and, in terms of diagnosis, it is, as I do now, to determine whether the patient is carrying or not carrying the mutation but also to be able to clarify the possibility that the disease is serious or not serious.

5. What is the key element for you that the project 101 genomes Marfan is important for Marfan patients? What about other rare diseases?

This project is a model for other rare diseases. What for? Because the problem of rare diseases is exactly what the word "rare" says. In rare diseases, to do research, we need to bring together a lot of teams to work together because the number of people you can work on is small and so all the statistical tests that are needed to validate the results are in default because there are few samples available.

The model that is being put in place with the P101GM is a model that allows to adapt a research strategy to this problem of the patients who represent only a small number of patients.

For example, a research project that would involve a very common disease such as myocardial infarction is something that is very common in the world and in one country, there are quite a few subjects that make myocardial infarction for be a sample of the population to work on. This is not the case at all in rare diseases and so we have to find ways to be effective. This research project must, if hopefully it succeeds, allow us to propose a model for other rare diseases.

Professor Catherine Boileau, PharmD PhD
CRMR Marfan syndrome and related parties, cardiology service (G.J., B.C.),
Laboratory for vascular Translational Science, INSERM U1148 (G.J., B.C.) and
Department of molecular genetics (C.B.), Hôpital Bichat, Paris, France



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