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Soutenir la fondation 101 génomes et la recherche sur le syndrome de Marfan
by Carmen Ragolle
50€ raised
Goal 200 €
La fondation 101 génomes est un projet incroyable, fondé par des parents géniaux ! Les soutenir est une façon simple et efficace de contribuer à faire avancer la recherche sur les maladies rares ! Ce projet fait chaud au coeur et donne de l'espoir dans "l'univers des maladies rares".
— Carmen
The Fondation 101 Génomes (F101G) is a patient-led initiative that aims to boost groundbreaking research in the field of rare diseases. F101G is hosted by the Fondation Roi Baudoin.
Our goal is to advance the understanding of the human genome to better treat rare diseases affecting children. We want to accelerate discoveries into new diagnostics tools and more efficient treatments.
To this aim, F101G is set to create a unique bioinformatic database that will unleash the full potential of genomics and artificial intelligence.
Our crowdfunding campaign “Impatient” wants to accelerate funding for research. We are “Impatient” because, when it comes to saving lives and improving the quality of life of people with a rare disease, there is no time to waste.
Gifts worth over 40 EUR are fiscally deductible.
Your money will help to support F101G’s pilot project, focused on Marfan Syndrome. Marfan Syndrome is a rare genetic connective tissue disorder affecting 1 in 5000 people. It’s a serious condition, which can be potentially life-threatening without an early diagnosis and medical treatment.
The pilot project aims to create a bioinformatic database crossing genotypic (Whole Genome Sequencing) data and detailed phenotypic (clinical) data from a cohort of patients holding the exact same mutation in FBN-1 gene. The ultimate aim is to understand the extreme variability in the symptoms of Marfan patients.
World-class medical scientists will have open access to this database. They will be able to launch algorithms designed to understand why some people display severe symptoms while others are only mildly affected by the mutation causing Marfan Syndrome. This discovery will allow scientists to develop accurate diagnostic tools and personalised treatments and cures for Marfan patients.
The project has galvinized support from the international scientific community. F101G’s scientific committee is formed by scientists from Antwerp University, UZ Gent, Erasme Hospital, Nijmegen, and Bichat Hospital.
Donation (1)
donation to "Soutenir la fondation 101 génomes et la recherche sur le syndrome de Marfan"
50 €
Anonymous
— 4 years ago
Bravo et merci!
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That's fantastic ! Your donation makes a difference !
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