1. can you introduce yourself?
I'm Bart Loeys. I'm a clinical geneticist at the Centre for Medical Genetics at the University of Antwerp. I have been doing research in the field of Marfan syndrome and related diseases for many years.
2. can you explain the project 101 genomes Marfan?
Marfan syndrome has been known for a long time. In the 1990s, researchers discovered that the gene underlying this syndrome is the one encoding the Fibrilline 1 protein. We are good enough today to identify the genetic variations that cause Marfan syndrome in this group of patients, but we cannot predict which patients are at risk of developing an aortic aneurysm and dissection. And I believe that a better study and genetic categorization of these patients will allow us to better answer this question.
3. Why did you agree to participate in the Scientific Committee of project 101MarfanGenomes?
When Romain Alderweireldt contacted me, I was immediately looking forward to participating in this project because I think it is important that we all work together as an international community and involve patients. It gives us a considerable boost to see all the energy that Romain and the members of the 101G Foundation have put into this project. And of course, there is also the desire as a researcher to contribute to the scientific part of this project.
4. as a scientist, what do you expect from project 101 genomes Marfan?
I hope that the main result of this project will be the identification of a modifying gene. The modifying genes should allow us to better predict which Marfan patients are likely to develop certain complications of the disease. For example, if we can identify the modifiers that determine which patient will develop an aortic aneurysm or not, this will allow us in the long run to develop better care for these patients.
5. What is the key element for you that makes project 101 Marfan Genomes important for Marfan patients? What about other rare diseases?
I think the key to this project is the collaboration of different international and national groups, but also that we bring together all the existing technologies. We now have the ability to sequence the entire genome, which was not possible until a few years ago. Genomic sequencing will advance research and make an important contribution to patient care. I believe that if we can carry out this project for Marfan syndrome, then it can also serve as a model for future research on other rare diseases.
Professor Bart Loeys, M.D. PhD
Cardiogenetics, Center for Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium
Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands