{"id":4395,"date":"2018-06-08T18:52:02","date_gmt":"2018-06-08T16:52:02","guid":{"rendered":"https:\/\/f101g.org\/para-mi-informar-y-tratar-mejor-a-los-pacientes-es-el-objetivo-primordial-por-el-prof-dr-g-g-b-julie-de-backer\/"},"modified":"2018-06-08T18:52:02","modified_gmt":"2018-06-08T16:52:02","slug":"para-mi-informar-y-tratar-mejor-a-los-pacientes-es-el-objetivo-primordial-por-el-prof-dr-g-g-b-julie-de-backer","status":"publish","type":"post","link":"https:\/\/f101g.org\/es\/para-mi-informar-y-tratar-mejor-a-los-pacientes-es-el-objetivo-primordial-por-el-prof-dr-g-g-b-julie-de-backer\/","title":{"rendered":"\u00abPara m\u00ed, informar y tratar mejor a los pacientes es el objetivo primordial\u00bb por el Prof. Dr. G. G. B. Julie De Backer"},"content":{"rendered":"

1. \u00bfPodr\u00eda presentarse?<\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/strong><\/p>\n

Soy Julie De Backer. Soy cardi\u00f3logo y genetista cl\u00ednico en el Hospital Universitario de Gante.<\/p>\n

2. \u00bfPuede hablarnos del Proyecto 101 Genomas de Marfan?<\/strong><\/p>\n

El objetivo del P101GM es encontrar una correlaci\u00f3n entre el da\u00f1o cl\u00ednico y el gen\u00e9tico en el s\u00edndrome de Marfan, en primer lugar, y luego, a m\u00e1s largo plazo, en otras enfermedades. Identificar una relaci\u00f3n entre ambos es el principal objetivo. Muchos investigadores ya han realizado numerosos estudios sobre este tema, pero a la vista de las nuevas tecnolog\u00edas gen\u00f3micas, que se han desarrollado espectacularmente en los \u00faltimos a\u00f1os, es muy importante introducir estas nuevas t\u00e9cnicas en la investigaci\u00f3n actual sobre genotipado-fenotipado.<\/p>\n

3. \u00bfPor qu\u00e9 acept\u00f3 formar parte del Comit\u00e9 Cient\u00edfico del Proyecto 101 Genomas de Marfan?<\/strong><\/p>\n

Llevo trabajando en el s\u00edndrome de Marfan desde 2001 y siempre me ha interesado mucho la correlaci\u00f3n entre genotipo y fenotipo. As\u00ed que fue por inter\u00e9s cient\u00edfico por lo que decid\u00ed participar en el Comit\u00e9 Cient\u00edfico del P101GM, pero sobre todo para poder responder a la necesidad de informar mejor a los pacientes sobre los riesgos de su enfermedad identificando estos riesgos de forma m\u00e1s fiable mediante las nuevas tecnolog\u00edas gen\u00f3micas.<\/p>\n

4. Como cient\u00edfico, \u00bfqu\u00e9 espera del Proyecto 101 Genomas de Marfan de la Fundaci\u00f3n 101 Genomas?<\/strong><\/p>\n

Como cient\u00edfico, espero que dispongamos de m\u00e1s medios para informar a los pacientes de forma m\u00e1s fiable que en la actualidad. Siempre hay casos cl\u00ednicos en los que ocurren tragedias porque carecemos de medios para predecir qu\u00e9 pacientes desarrollar\u00e1n qu\u00e9 tipo de enfermedad. En lo que a m\u00ed respecta, el objetivo primordial es mejorar la informaci\u00f3n y el tratamiento de los pacientes.<\/u>.<\/p>\n

5. \u00bfCu\u00e1l cree que es el elemento clave que hace que el Proyecto de los 101 Genomas de Marfan sea importante para los pacientes de Marfan? \u00bfQu\u00e9 ocurre con otras enfermedades raras?<\/strong><\/p>\n

Desde hace a\u00f1os, en medicina se intenta encontrar factores que ayuden a predecir el riesgo. Por supuesto, hay factores ambientales en juego (sexo, hipertensi\u00f3n, etc.), pero en cuanto a los aspectos gen\u00e9ticos, espero que encontremos modificadores en los genes que nos ayuden a predecir los riesgos. Si esto es s\u00f3lo un factor, ya ser\u00e1 un gran paso en la direcci\u00f3n correcta.<\/u>.<\/p>\n

Profesora Julie De Backer M.D. PhD,
\nCentro de Gen\u00e9tica M\u00e9dica, Universidad de Gante y Hospital Universitario de Gante, Gante, B\u00e9lgica
\nDepartamento de Cardiolog\u00eda, Universidad de Gante y Hospital Universitario de Gante, Gante, B\u00e9lgica<\/strong><\/p>\n

 <\/p>\n

[embedyt] https:\/\/www.youtube.com\/watch?v=8S5kszw0_NQ[\/embedyt]<\/p>\n

 <\/p>\n

[embedyt] https:\/\/www.youtube.com\/watch?v=y-Ad4hNcoa0[\/embedyt]<\/p>\n

 <\/p>\n","protected":false},"excerpt":{"rendered":"

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