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Una breve historia de la genética de las enfermedades humanas

Melina Claussnitzer^1,2,3, Judy H Cho^4,5,6, Rory Collins^7,8

¹Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA.

|January 10, 2020

Resumen

La investigación genética humana identifica las variantes de ADN que afectan el riesgo de enfermedad. Los avances en genómica y análisis de datos han mejorado significativamente nuestra comprensión de los mecanismos de la enfermedad y han llevado a estrategias de medicina personalizada.

Área de la Ciencia:

La genética humana
La genómica
Investigación biomédica

Sus antecedentes:

La identificación de las variantes de la secuencia de ADN que influyen en los rasgos biomédicos es un objetivo clave en la genética humana.
El progreso ha sido impulsado por los avances tecnológicos, los recursos genómicos, las herramientas analíticas y el acceso a datos a gran escala durante 25 años.

Objetivo del estudio:

Para resaltar los avances en la identificación de las variantes genéticas relacionadas con la enfermedad.
Subrayar el impacto de los descubrimientos genéticos en la comprensión de los mecanismos de las enfermedades.
Para enfatizar el futuro de la medicina centrándose en la predisposición genética.

Principales métodos:

Aprovechando los avances tecnológicos para la secuenciación y el análisis del ADN.
Utilizando recursos genómicos básicos y herramientas analíticas sofisticadas.
Analizando grandes cantidades de datos de genotipo y fenotipo.

Principales resultados:

Mejora sustancial en la comprensión de los mecanismos de las enfermedades raras y comunes.
Desarrollo de nuevas estrategias preventivas y terapéuticas basadas en conocimientos genéticos.
Mayor atención a la atención personalizada adaptada a las predisposiciones genéticas individuales.

Conclusiones:

Los descubrimientos genéticos han transformado nuestra comprensión de las enfermedades humanas.
La innovación médica futura dependerá cada vez más de la información genética individual para tratamientos personalizados.
La medicina personalizada basada en la predisposición genética es el futuro de la salud.

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