Marfan

With support from the King Baudouin Foundation, Ludivine and Romain Alderweireldt-Verboogen founded 101 Génomes to help children who, like their young son, have a rare disease. Their goal is to advance research by creating a solution that allows for the exploration of the genome to better understand rare diseases and treat them more effectively. After extensive research, they decided to make a biobank available to researchers, containing complete genomic data (WGS) from people with rare diseases and “control” subjects. Since 2017, supported by renowned scientists, bioinformaticians, patient organizations, generous donors, lawyers, and engineers, Romain and Ludivine have been working to establish this tool, which has been operational and accessible to researchers since 2021.

101 Genomes’ work focuses primarily on a multisystemic disease called Marfan syndrome.

While examining a genetic database of healthy individuals who serve as controls in the research, Romain discovered that it contained numerous variants in the FBN1 gene that are considered in the scientific literature to be pathogenic variants responsible for the most severe forms of Marfan syndrome.
The discovery of individuals who appear to be in good health despite carrying pathogenic variants suggests that they may be genetically protected, even from the most severe forms of Marfan syndrome, thanks to the action of what is known as a protective gene capable of counteracting the dysfunction of the FBN1 gene that causes the disease.
The ultimate goal of 101 Genomes is to enable researchers to identify these protective genes and then mimic their effects with drugs to better treat Marfan syndrome.