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Ciencia básica y patogénesis

Pedro R Mena1, Andrew F Zaman1, Michael L Cuccaro2

  • 1University of Miami Miller School of Medicine, Miami, FL, USA.

Alzheimer's & dementia : the journal of the Alzheimer's Association
|December 25, 2025
PubMed
Resumen
Este resumen es generado por máquina.

El estudio DAWN está construyendo un recurso genético diverso para la investigación de la enfermedad de Alzheimer (EA), con el objetivo de mejorar la comprensión y el tratamiento para todas las poblaciones. Esta iniciativa recopila datos extensos de grupos subrepresentados para avanzar en la genética de la EA.

Palabras clave:
Enfermedad de AlzheimerGenéticaPoblaciones subrepresentadasDiversidad genéticaEstudio DAWN

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Área de la Ciencia:

  • Neurociencia
  • Genética
  • Salud Pública

Sus antecedentes:

  • El Estudio de Investigación DAWN sobre la Enfermedad de Alzheimer es una iniciativa internacional para mejorar la diversidad genética en la investigación de la enfermedad de Alzheimer (EA).
  • Su objetivo es crear un recurso integral mediante la recopilación de datos clínicos, sociales, conductuales, ambientales, genéticos y de biomarcadores de poblaciones diversas.

Objetivo del estudio:

  • Aumentar la representación de la ascendencia africana (estadounidenses de ascendencia africana [AAA] e africanos indígenas [IA]) y latinoamericanos (LA) en estudios de EA.
  • Aprovechar la variación genética integral para una mejor comprensión y tratamiento de la EA en todas las poblaciones.

Principales métodos:

  • Reclutamiento de participantes de entornos clínicos y comunitarios, que abarcan un rango de estados cognitivos (EA/demencia, Demencia Relacionada con la EA, deterioro cognitivo leve, sin deterioro cognitivo).
  • Protocolo clínico estandarizado que incluye historial, evaluaciones neuropsicológicas, funcionales, neuroconductuales y epidemiológicas, armonizado con el Proyecto de Secuenciación de la Enfermedad de Alzheimer.
  • Control de calidad riguroso y procesamiento de datos utilizando algoritmos de árbol de decisión y adjudicación basada en revisores, adaptados para sitios de EE. UU. y África.

Principales resultados:

  • Más de 5.000 participantes (IA, AAA, LA) reclutados en los primeros dos años, con datos demográficos y clínicos detallados.
  • Demografía de los participantes: IA (58% Mujeres, edad media 74,5), AAA (81% Mujeres, edad media 71,6), LA (76% Mujeres, edad media 72,2).
  • La distribución de los diagnósticos clínicos varía entre los grupos, con proporciones significativas en las categorías NCI, EA y ADRD/MCI.

Conclusiones:

  • El estudio DAWN ha reclutado y procesado con éxito a más de 5.000 participantes, lo que demuestra un progreso productivo.
  • Este proyecto colaborativo está preparado para acelerar la identificación y comprensión de los factores de riesgo genético de la enfermedad de Alzheimer en poblaciones diversas.