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¿Y tú, quieres ayudarnos?
by Bianca Dobos
100€ raised
Goal 1000 €
El síndrome de Marfan es un trastorno genético que afecta al sistema conjuntivo. El sistema conjuntivo está formado por proteínas. La proteína relacionada con el síndrome de Marfan es la fibrilina-1. El síndrome está causado por una mutación del gen que indica al cuerpo cómo crear la fibrilina-1. Esta mutación tiene como resultado una mayor producción de la proteína TGF-beta, que causa diversos problemas en el tejido conjuntivo de todo el cuerpo, origen de los problemas relacionados con el síndrome de Marfan.
Una de las características que más curiosas me parecen de este síndrome es que, a pesar de que la causa sea la misma, la malformación del gen, la forma en que afecta a quienes lo padecen cambia (incluso de forma drástica) de una persona a otra.
La Fondation 101 Génomes ha sido creada por y para los pacientes que padecen enfermedades raras. La finalidad, en este caso, es investigar para comprender por qué la misma mutación afecta de formas diferentes a quienes padecen el mismo síndrome y mejorar la calidad de vida de estas personas.
1 de cada 5000 personas padecen el síndrome de Marfan.
Yo he conocido a una de esas personitas y quiero aportar mi granito de arena para que la Fondation 101 Génomes pueda avanzar en la investigación.
¿Y tú, quieres ayudarnos?
— Bianca
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.
Donations (2)
2 magic donors are supporting "¿Y tú, quieres ayudarnos?"
50 €
Valeria
— 4 years ago
Espero que mi granito de arena ayude!
50 €
Anonymous
— 4 years ago
Bravo por la iniciativa
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That's fantastic ! Your donation makes a difference !
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