"A source of inspiration" by Prof. Anne De Paepe

2018 /Thursday, October 18th, 2018

1. can you introduce yourself?

My name is Anne de Paepe, I am Prorector of the University of Ghent, Professor of human genetics and head of clinic in the Department of medical genetics in Ghent, where I have established a research unit and a clinical service specializing in the field of connective tissue diseases, including Marfan syndrome. Studying the genetic causes and pathogenesis of these rare diseases in order to better be able to help patients and families affected, has been the red thread of my entire professional career. I therefore replied without hesitation to Mr. and Mrs. Alderweireldt's request to chair the Management Committee of the Fonds 101 Génomes , which they created within the King Baudouin Foundation in order to raise the funds necessary to finance the 101 genomes project.

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

the Fonds 101 Génomes Marfan was established by Romain and Ludivine Alderweireldt, parents of Aurélien, suffering from a Marfan syndrome, with the aim of supporting scientific research on this disease and finding therapies that could improve the living conditions of people by being able to avoid, for example, heavy surgical procedures. Although the genetic cause of Marfan syndrome is known to be a mutation in the fibrillin gene 1 – a major structural protein of connective tissues – it is not yet possible to explain the great clinical variability of Marfan, where we see, even within the same family with an identical mutation, the intensity of cardiovascular, ocular, and skeletal damage is highly variable.

Taking advantage of new genomic techniques and bioinformatics, the Fund wants to set up a computer platform capable of crossing phenotypic data on the one hand, and genomic data on the other hand from a cohort of 101 Marfan people with the aim of identifying genetic determinants that may explain the severity or lack of severity. Initially, the project will be directed to patients with identical mutations but with a variable impairment of the cardiovascular system. In a second phase, the other systems associated with Marfan will be supported. This is hoped to find "modifier genes" that can modulate severity and lead to the development of new protectionist therapies that may slow the evolution or even prevent deleterious manifestations. (and thus improve life expectancy).

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

Rare diseases, in this case connective tissue diseases such as Marfan's syndrome, have been at the Centre of my professional activities for many years. Although there has been considerable progress in the research of the genetic causes of these diseases, the therapeutic possibilities are still very limited. There is a great need to find therapy that can significantly improve the quality of life of patients and families and even, to the limit, that could quite prevent the development (of serious manifestations) of the disease. To do this, concerted action by research teams and clinicians specializing in the field is essential. This is exactly the case of this project which brings together the specialised teams in Belgium and beyond, also seeking the collaboration of the high performance team of professors Boileau and Jondeau in Paris.

The fact that this initiative comes from the Alderweireldt family, directly confronted with the disease, makes it a unique and exemplary adventure that will certainly be a source of inspiration for future initiatives in the field of rare diseases.

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

Firstly, as a doctor and scientist, I obviously aspire to discover the effective therapeutic means that can prevent or delay clinical manifestations and thus offer a better quality and perspective of life to patients and Marfan families.

In addition, I am convinced that the 101 genomes Marfan project is a formidable model and a source of inspiration for many other rare diseases, and I hope that it will lead to similar initiatives that will bring together at national and international level scientists and physicians who join forces to face the difficult but necessary challenge of discovering effective treatments.

The strategy deployed in this project can be very useful to a much wider community of scientists and researchers in the field of genetic diseases, and can enlighten us in understanding more common diseases like aneurysms Aortic, for example.

Finally, I hope that this project will align itself with the European and international initiatives and consortia already underway, such as the European reference network.

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

As already stated, the fact that this project brings together different research teams and specialized physicians at the national and international level around the same cause as well as the unique strategy of this project makes it a model for many other diseases Rare.

But for me, the key element is above all the dynamism and extraordinary motivation of the couple Romain and Ludivine, who want a better future not only for their son but for all the people marfans thumb and their families, and who have succeeded in mobilizing not only the appropriate scientific and medical community but also the Association Marfan, the King Baudouin Foundation and already an impressive number of patrons, to support their dream: create a better life for their son Aurélien and for all marfans thumb people and their families!


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