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Ayudemos a los pacientes impacientes
by Marta Climent
125€ raised
Goal 500 €
Mi ahijada padece una enfermedad genética rara. Se llama síndrome de Marfan y afecta al tejido conectivo. Aun no existe un tratamiento eficaz que proteja su corazón y su enfermedad progresa con el paso del tiempo.
Sus padres no se han dejado abatir por la noticia. Al contrario: se han informado, y han conectado con otras familias de pacientes, con los médicos.
Tienen un objetivo común y necesitan nuestra ayuda: con la Fundación 101 Genomas quieren crear una nueva herramienta que acelere la investigación sobre las enfermedades genéticas. Se trata de crear una base de datos bio-informatica que cruce los datos genomicos con los datos clínicos de pacientes afectados por enfermedades raras, para poder profundizar el conocimiento científico y desarrollar nuevos tratamientos mucho más eficaces, con la ayuda de la inteligencia artificial.
Son increíblemente eficaces. Han recaudado medio millón de euros en dos años, con mucha dedicación y esfuerzo: cenas benéficas, ventas de vino, propuestas para obtener subsidios, corriendo maratones ...
Hoy necesitan nuestra ayuda para recaudar los últimos 75000 euros necesarios para poder lanzar la base de datos.
Son unos pacientes atípicos. No quieren esperar. Tienen esperanza en que la ciencia irá más rápido que la enfermedad. Son unos impacientes. Yo también. Y tu?
— Marta
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 (4)
4 magic donors are supporting "Ayudemos a los pacientes impacientes"
50 €
Karen
— 4 years ago
25 €
Verónica
— 4 years ago
25 €
Anonymous
— 4 years ago
25 €
Anonymous
— 4 years ago
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That's fantastic ! Your donation makes a difference !
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