Journey and Evolution of Cytogenomics Technologies in Rare Diseases Where We Come From, Where We Are, and Where We Are Going
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Abstract
Rare diseases (RD) are collectively common in daily practice, with most of them having a genetic etiology and posing a high burden of morbidity both at the individual and population levels.
The technological development of cytogenomics over the past century, and especially in the last three decades, has revolutionized the approach, diagnosis, and management of these conditions. This article reviews the key milestones in this field, from the chromosomal theory of inheritance to the fascinating telomere-to-telomere map of the human genome.
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Derechos de autor: Actualizaciones en Osteología es la revista oficial de la Asociación Argentina de Osteología y Metabolismo Mineral (AAOMM) que posee los derechos de autor de todo el material publicado en dicha revista.
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