1. can you introduce yourself?

I'm Julie de backer. I am a cardiologist and clinical geneticist at the Ghent University Hospital.

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

The aim of P101GM is to correlate clinical and genetic damage in Marfan syndrome in the first place and then, in the longer term, in other diseases. Identifying a relationship between the two is the main goal. Many researchers have already done many studies on this subject but in view of the new Genomics technologies in which there is a dramatic evolution in recent years, it is very important to introduce these new techniques in the current genotypic-phenotypic research.

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

I have been involved in Marfan syndrome since 2001 and I have always been very interested in the question of the correlation between genotype and phenotype. It is therefore by scientific interest that I decided to take part in the Scientific Committee of P101GM but especially mainly to be able to respond to the need to better inform patients about the risks of their disease by identifying more reliably these risks through new Genomics technologies.

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

As a scientist, I hope that we will have more ways of informing patients more reliably than they are currently. There are always clinical cases where tragedies happen because there is a lack of means to predict which patient will have what kind of evolution of the disease. For me, better informing and better treating the patient is the primary goal.

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

For years, everyone in medicine has been trying to find factors that can help predict risk. There are of course the environmental factors that play (sex, hypertension, etc.) but with regard to the genetic aspects, I hope that we will find modifiers in the genes that can help us predict the risks. If it is only a factor, it will already be a big step in the right direction.

Professor Julie de backer M.D. PhD,
Center for medical genetics, University of Ghent and Ghent University Hospital, Ghent, Belgium
Department of Cardiology, University of Ghent and Ghent University Hospital, Ghent, Belgium