Atrofia Muscular Espinal: una enfermedad incurable, pero con múltiples terapias
Existen diversas alternativas que pueden prolongar la supervivencia y mejorar la calidad de vida de la población afectada por esta patología. Sin embargo, el país debe superar barreras como su diagnóstico oportuno, la adopción de nuevas tecnologías e inclusión social de los pacientes.
Adrian Krainer
“St Giles Foundation Professor and Deputy Director of the Cancer Center at Cold Spring Harbor Laboratory (Long Island, NY). He received BA and PhD degrees in Biochemistry from Columbia University and Harvard University, respectively. Prof. Krainer is a researcher in the field of RNA splicing, and an inventor of the RNA-targeted antisense therapeutic Spinraza, the first approved drug to treat the neurodegenerative disease spinal muscular atrophy. He has published over 200 scientific articles and holds 7 US patents and 83 foreign patents that have been licensed or sublicensed to 3 companies.
He is a founder and Director of Stoke Therapeutics. He is the recipient of the 2019 Life Sciences Breakthrough Prize, the 2019 RNA Society Lifetime Achievement Award, the 2019 KJ Zülch Prize in Basic Neurological Research, the 2019 ETH Peter Speiser Award in Pharmaceutical Sciences, the 2019 Bermuda Principles Award, the 2018 Brandwein Award in Genetic Research, the 2017 FE Bennett Memorial Award of the American Neurological Association, and an honorary doctorate from Tel Aviv University. Prof. Krainer is a fellow of the American Academy of Arts & Sciences, the National Academy of Inventors (USA), and the Royal Society of Medicine (UK).}
María Isabel Acevedo
Presidente de Famecol S&S
Madre de Mariana y Azul Sofia afectadas de AME tipo 3 y 2.
Graduada como maestra de música, Magister en educacón.”
Edicson Ruiz
Fisiatra del Instituto Roosevelt, especialista en medicina física y rehabilitación con amplia experiencia en el tratamiento y rehabilitación de pacientes AME.
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