Brussels - Romain and Ludivine, parents of a child with a rare disease, Marfan Syndrome, have created a Foundation under the aegis of the King Baudouin Foundation, the Fondation 101 Génomes , to finance the creation of a computerized collection and genomic analysis platform. This innovative bioinformatics tool can be used by researchers wishing to develop knowledge about the disease, and imagine new therapeutic directions for patients. The couple is mobilizing to raise funds to start the project in January 2019.
When the rare disease was announced, the
Like all parents confronted with the discovery of a rare genetic disease in their child, Romain and Ludivine were shocked and astonished. Ludivine: " Our story began two and a half years ago with the birth of our son Aurélien. Seven days after his birth, the pediatrician tells us that she suspects a connective tissue anomaly. A diagnostic odyssey begins, which ends eleven months later with the discovery of a spontaneous genetic mutation corresponding to Marfan syndrome.. »
Aurelien's parents are worried about their son. The spontaneous variant of the disease sometimes predicts a shorter life expectancy than the hereditary form. Even if their son finally seems to have a good prognosis, the couple nevertheless becomes aware of the great variability of the attacks generated by the syndrome.
Facing by theempowering
To make sense of the incomprehensible, Ludivine and Romain learn to master what frightens them. Understanding the biological mechanisms behind their son's injuries, the role of genes in the production of proteins useful for the proper functioning of the human body and the consequences of genetic alteration on the body.
Ludivine: " We asked ourselves many questions to which we tried to find answers. By going on the internet, Romain typed the name of our son's genetic mutation and we discovered an abundant scientific literature, thanks to the existence of a database made freely available (http://www.umd.be/FBN1/). ".
The discovery of the great unknowns of research
Romain and Ludivine also quickly grasp the great unknowns of the research: " The damage varies greatly from one individual to another, even within the same family of hereditary Marfans. Scientists do not fully understand this great variability. »
With the help of a renowned geneticist, Guillaume Smits, Romain and Ludivine discover a field previously unknown to them: genomics.. This scientific discipline that studies the human genome could indeed provide keys to understanding the great variability in the expression of Marfan syndrome.
Innovating through genomics
From prolific readings to fruitful encounters, Romain and Ludivine take action.
The couple created a foundation under the aegis of the King Baudouin Foundation - the Fondation 101 Génomes To contribute to the development of a bioinformatics database, designed to cross-reference genomic and phenotypic data 101 people affected by Marfan syndrome.
Roman: " It is hoped that such a tool will lead to a better understanding of the disease and its extreme variability. Our dream is to identify modifier genes whose beneficial action could be replicated by drugs. ".
A collective energy in an open science logic
To carry out their project, Romain and Ludivine have enlisted the help of some of the great names in research. Gathered around a Belgian nucleus, Prof. Anne De Paepe, Julie De Backer, Bart Loeys, Guillaume Smits, the group is enlarged to Europe with the arrival of the French Prof. Catherine Boileau and Guillaume Jondeau (also member and President of the European research network on cardiovascular diseases: VASCERN).
Roman: " The basic idea is to give scientists the opportunity to access the genomic information that next-generation sequencers can now obtain ".
« The advantage of our approach is that it is not focused on a single team of researchers. By setting up the bioinformatics tool, we enable the entire community to conduct research while allowing the various teams to make substantial savings by avoiding having to set up cohorts of patients and especially to finance sequencing. complete genomes (cited in King Baudouin Foundation website).
He concluded: " Once this bioinformatics platform is in place for the 101 Marfan Genomes Pilot Project, we hope that the method can be replicated for other projects involving other rare diseases. ".
there Fondation 101 Génomes - under the aegis of the King Baudoin Foundation
- Created in November 2017
- Founded by Romain Alderweireldt and Ludivine Verboogen, parents of a child with Marfan Syndrome
- Goal: to raise 700,000 euros in 10 years to finance the creation of a bioinformatics database containing genomic and phenotypic data from 101 patients with Marfan Syndrome
- Agenda: operational start to start in early January 2019 over a 10-year period
- Scientific Committee: Prof. Anne De Paepe, Julie De Backer, Bart Loeys, Guillaume Smits, Catherine Boileau and Guillaume Jondeau
Press Contact: Ludivine Verboogen '32 (0)4188.8.131.52 firstname.lastname@example.org
 Ms. Guillemette Pardoux: Head of Scientific Communication, Inserm, Paris and member of the French Marfans Association.
 Genomics: a branch of genetics that studies genomes, that is, the entire hereditary material composed of nucleic acids (DNA or RNA) of a cellular element, organism or species.
 Phenotypic: which refers to all of an individual's apparent traits
 Sequencing: DNA sequencing is the order of nucleotides for a given piece of DNA. The DNA sequence contains the information needed for living things to survive and reproduce.
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