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Es imposible hablar de Enfermedades Raras sin tomar en cuenta las repercusiones de ellas en la Salud. La identificación de las secuencias del genoma humano en el 2006 amplió el conocimiento de las causas de algunas enfermedades. Seguramente la genética intervendrá cada día más en su diagnóstico, prevención y tratamiento. En el caso de las Enfermedades Monogénicas, relativamente raras, estas son el motivo de incluso 10% de las hospitalizaciones y muertes de niños.
