1470 lines
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1470 lines
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<time class="article-date es-date">23 May 2023</time>
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<h1 class="page-title">Descubriendo más variantes genéticas gracias a la información de All of Us</h1>
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<img src="/sites/default/files/23-0453%20AoU%20May%20Graphic%20May%20Research%20Highlight%20Graphics_SP_dev1b_highliteSP_1980x855px_0.jpg" width="1980" height="855" alt="118 variantes genéticas identificadas, algunas de las cuales pueden causar un tipo de anemia. Logotipo del Programa Científico All of Us. Una ilustración de una cadena de doble hélice de ADN. Los peldaños o pares de bases están representados como parejas de personas que extienden los brazos por encima de la cabeza y toman las manos de su pareja. Un investigador científico con bata de laboratorio sostiene una lupa de gran tamaño." loading="lazy" typeof="foaf:Image" class="img-fluid" />
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<h2><strong>Puntos clave</strong></h2>
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<li>Compartimos el 99,9 % de nuestro ADN.</li>
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<li>Las variantes genéticas son pequeñas diferencias en el ADN.</li>
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<li>Información de <em>All of Us</em> descubrió 118 variantes genéticas posiblemente relacionadas con la deficiencia de G6PD y podría ayudar a descubrir variantes genéticas para otras afecciones.</li>
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<p><strong>Aproximadamente <a href="https://www.joinallofus.org/es/learn-more/genomics-and-your-dna-results">el 99,9 % de su ADN</a> es igual al de un extraño elegido al azar. </strong>Las diferencias en una pequeña cantidad de su ADN lo hacen único. Estas diferencias se denominan variantes genéticas.</p>
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<p>La mayoría de las variantes genéticas son inofensivas. Algunas pueden proteger contra enfermedades. <strong>Pero algunas variantes genéticas pueden causar problemas de salud</strong>. Comprender el vínculo entre los genes y las enfermedades es una parte importante de la investigación científica en salud.<strong> Los nuevos descubrimientos sobre las variantes genéticas pueden conducir a una atención médica personalizada para cada uno de nosotros.</strong></p>
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<p>Las variantes genéticas en un gen llamado <em>G6PD</em> pueden causar una condición llamada <a href="https://medlineplus.gov/spanish/ency/article/000528.htm">deficiencia de G6PD</a>. Las personas con esta condición a veces desarrollan un tipo de <a href="https://www.nhlbi.nih.gov/es/salud/anemia/anemia-hemolitica">anemia</a>, cuyos síntomas incluyen fatiga, dificultad para respirar y mareos. Para estas personas, la anemia puede ocurrir cuando comen ciertos alimentos o toman ciertos medicamentos.</p>
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<p><strong>Los investigadores científicos analizaron la información compartida por los participantes de <em>All of Us</em> para aprender más sobre las variantes genéticas relacionadas con la deficiencia de G6PD.</strong> Los hallazgos fueron publicados en la revista científica <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9943724/"><em>American Journal of Human Genetics</em></a> (en inglés).</p>
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<h2>Descubrimientos genéticos gracias a la información diversa</h2>
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<p>Los científicos ya han encontrado más de mil variantes en el gen <em>G6PD</em>. Aun así, algunas personas con deficiencia de G6PD no tienen una de las variantes genéticas conocidas.</p>
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<p><strong>En este estudio, los investigadores científicos utilizaron la información de <em>All of Us</em> para buscar más variantes del gen <em>G6PD</em>.</strong> Con este fin, analizaron la información de ADN de las muestras compartidas por los participantes de <em>All of Us</em>. También analizaron la información de los registros electrónicos de salud (EHR, por sus siglas en inglés) para encontrar participantes diagnosticados con deficiencia de G6PD con o sin anemia.</p>
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<p>Al analizar la información de ADN y de los EHR, los investigadores científicos vincularon directamente la enfermedad con las variantes genéticas. <strong>Descubrieron 118 variantes de <em>G6PD</em> no documentadas con anterioridad.</strong></p>
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<p><strong>Descubrimientos como este son posibles gracias a la diversidad de los participantes de <em>All of Us</em> y la cantidad de información que comparten. </strong>Cuando personas de diferentes orígenes participan en la investigación científica, los científicos desarrollan una comprensión más completa de la salud y la enfermedad.</p>
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<h2>Un futuro con la medicina de precisión</h2>
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<p>Este es solo el comienzo. <strong>En el futuro,</strong> <strong>los estudios podrían ayudar a los investigadores científicos a aprender más sobre las variantes encontradas en este estudio.</strong> Por ejemplo, ¿alguna de las variantes puede ayudar a los proveedores de atención médica a predecir quién tendrá anemia? ¿Alguna variante está relacionada con síntomas más graves? Con esta información, los proveedores de atención médica pueden tratar mejor a los pacientes con deficiencia de G6PD.</p>
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<p><strong>Este estudio muestra cuán poderosa es la información de <em>All of Us</em> para descubrir más variantes genéticas y comprender cómo las diferencias en el ADN de cada persona afectan su salud.</strong> Conocer estas diferencias puede hacer posible utilizar la medicina de precisión en más enfermedades. Esto significa que los medicamentos y los tratamientos pueden adaptarse a usted y su ADN.</p>
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<img src="/sites/default/files/23-0175%20Eboni%20Winford_900x900SP_0.jpg" width="900" height="900" alt="Foto de Eboni Winford" loading="lazy" typeof="foaf:Image" class="img-fluid" />
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<a href="https://allofus.nih.gov/news-events/voces-all-us/corazon-servicio-impulsa-winford-promover-investigacion-salud" class="title_link">
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Un corazón para el servicio impulsa a la doctora Eboni Winford a promover la investigación de salud
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</a>
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