F101G - With the support of the King Baudouin Foundation, Ludivine and Romain Alderweireldt-Verboogen have created Fondation 101 Génomes to help children who, like their little boy, suffer from a rare disease.
Why? - By examining a genetic database of healthy individuals who serve as controls for the research, Romain discovered that it contained many variants on the gene FBN1 considered in the scientific literature as pathogenic variants at the origin of the most severe forms of Marfan syndrome.
The discovery of apparently healthy individuals with pathogenic variants suggests that they may be genetically protected from even the most severe forms of Marfan syndrome by the action of a so-called protective (epistatic) gene that can counteract the failure of the FBN1 at the origin of the disease.
The identification of possible protective genes in the genome would allow the development of new therapeutic approaches that would replicate their protective effects.
Action - Romain and Ludivine have decided to make a genomic biobank available to researchers in the Cloud which contains the complete genomic data (WGS) of people with rare diseases and of "control" people.
Since 2017, accompanied by renowned scientists, patient organizations, generous donors, lawyers and engineers, they have been working to implement this solution.
Their goal is to advance research by creating a solution that will enable genome mining to better understand and treat rare childhood diseases.
GEMS - The action of the Fondation 101 Génomes focuses first on the rare multi-systemic disease called Marfan syndrome from which Ludivine and Romain's little boy suffers with the will to extend it to other rare diseases.
The GEMS study is at the heart of the F101G's action. For this reason, the F101G provides the researchers conducting this study with the necessary resources, including:
- management of study participants' consents,
- certain logistical elements,
- genomic sequencing,
- initial bioinformatics and
- data storage (computer and biological).
F101G supports GEMS while ensuring that the expertise and knowledge gained can be shared with other research groups interested in Marfan syndrome or other rare diseases.