On April 25, 2019, the Fonds Baillet Latour awarded its credit for medical research 2019 of a total amount of 750,000 euros to Professor Julie de backer (University of Ghent and co-Chair of the Scientific Committee of the project 101 genomes Marfan) and its Prix de la 2019 health insurance amounting to 250,000 euros to Professor Catherine Boileau (Hôpital Bichat and member of the Scientific Committee of the project 101 genomes Marfan) at the Royal Academy of Belgium in the presence of her Majesty Queen Mathilde of Belgium on 25 April 2019. Yvonne Jousten and Douchka Peyra, respectively Honorary President and President of the Belgian Association of Marfan syndrome were invited as well as Ludivine and Romain Alderweireldt-Verboogen for the Fondation 101 Génomes .
The awarding of a total amount of EUR 1 million to Marfan syndrome specialists Julie de backer and Catherine Boileau to continue research on cardiovascular diseases is a great news for all people with Marfan syndrome and related diseases. This sum will nourish the hope of improving the living conditions of patients [1].
To hear in turn Professor Julie de backer and Professor Catherine Boileau evoke Marfan's syndrome before her Majesty Queen Mathilde of Belgium and a attentive crowd of guests handpicked on the side contrasted terribly with the solitude that one can sometimes feel in front of the disease in a hospital room. In terms ofAwarness compared to the disease, we have probably rarely done better! Congratulations, ladies!
In his reception speech, Professor Julie de backer had the opportunity to explain that the project in the field of cardiovascular diseases for which she received the credit Fonds Baillet-Latour is " develop an integrated platform for the development of more accurate medicine in the field of hereditary thoracic aortic diseases "[2].
Professor Julie de backer then described the three dimensions on which this platform is based, namely:
- the European Reference Network for Rare Vascular Diseases VASCERN [3];
- the genetic and phenotypic database established by the Montalcino aortic Consortium (MAC [4]; And
- the genomic database set up by Fondation 101 Génomes (F101G) [5].
The surprise to hear Professor Julie de backer explain the role of the project 101 genomes dedicated to Marfan syndrome in the architecture of his research, has touched us a lot and has strengthened us in the importance of the action of the F101G to enable the science of to progress.
Professor Julie de backer went on to describe the research steps that could be conducted on the basis of the integrated platform and concluded by emphasizing the importance of patients in his research and paying tribute to the investment of Yvonne Jousten.
In receiving his prize, Professor Catherine Boileau insisted on the urgency of studying and understanding the mechanisms at work in rare diseases in that their understanding allows to discover new therapeutic approaches for these diseases but also for other far less rare diseases in which similar mechanisms are at work.
She explained very concretely that her work on rare forms of familial hypercholesterolemia and vascular atherosclerosis allowed to identify mutations in the PCSK9 gene whose protective effect could be replicated by the development of inhibitors of this gene that have allowed to propose new treatment of cholesterol for the general population [6]!
Professor Catherine Boileau clarified that the objective of her work in progress is " to lead to diagnostic and predictive tests to gravitate and identify new therapeutic targets [7] for patients with Marfan syndrome. And this is precisely what she is working on in the Scientific Committee of the project 101 genomes Marfan!
It goes without saying that we were all particularly euphoric at the reception that followed the delivery of these prizes!
Congratulations again to these two great ladies who advance the knowledge about Marfan syndrome and the problems of the aorta.
What a great day for the Marfan community!
Ludivine & Romain
[1] and in this sense, the passage of the press release accompanying the attribution of the credit to Professor Julie de backer who mentions his research on TGFβ and especially NO is particularly encouraging: The research of Professor de backer and his team has already made it possible to better understand the underlying causes of cardiovascular attacks of these disorders. They have thus deepened the concept of mechanosignalisalion El more precisely the role of several signalling pathways, including the signalling TGFβ and NO ". http://www.fondsbailletlatour.com/media/misc_media/20190425-CP-FBL_CreditRechercheMedicale-FR.pdf).
[2] free translation of " Designing an integrated platform for the development of more precise medicine in heritable thoracic aortic disease ".
[3] to learn more about VASCERN see: https://vascern.eu/
[4] to learn more about MAC see: http://www.montalcinoaorticconsortium.org/
[5] www.f101g.org
[6] " In the field of Familial Hypercholesterolemia (FH), she was the first to postulate and demonstrate the existence of completely unknown actors in cholesterol metabolism. This is how it identified the first mutations in function gain in PCSK9 both in subjects FH and in other atheromateuses dyslipidemias. This exceptional discovery has allowed the development of different classes of anti-PCSK9 therapies. These products prove to be the most potent cholesterol-lowering agents since the discovery and use of statins, more than 30 years ago » http://www.fondsbailletlatour.com/media/misc_media/20190425-CP-FBL_PrixSante-FR.pdf
[7] http://www.fondsbailletlatour.com/media/misc_media/20190425-CP-FBL_PrixSante-FR.pdf