Faundes Víctor, Repetto Gabriela M, Valdivia Leonardo E
Universidad de Chile, Instituto de Nutrición y Tecnología de los Alimentos, Laboratorio de Genética y Enfermedades Metabólicas, Santiago, Chile.
Universidad del Desarrollo, Facultad de Medicina, Instituto de Ciencias e Innovación en Medicina, Centro de Genética y Genómica, Programa de Enfermedades Raras, Santiago, Chile.
Genet Mol Biol. 2024 Mar 11;47Suppl 1(Suppl 1):e20230318. doi: 10.1590/1678-4685-GMB-2023-0318. eCollection 2024.
Latin America (LatAm) has a rich and historically significant role in delineating both novel and well-documented genetic disorders. However, the ongoing advancements in the field of human genetics pose challenges to the relatively slow adaption of LatAm in the field. Here, we describe past and present contributions of LatAm to the discovery of novel genetic disorders, often referred as novel gene-disease associations (NGDA). We also describe the current methodologies for discovery of NGDA, taking into account the latest developments in genomics. We provide an overview of opportunities and challenges for NGDA research in LatAm considering the steps currently performed to identify and validate such associations. Given the multiple and diverse needs of populations and countries in LatAm, it is imperative to foster collaborations amongst patients, indigenous people, clinicians and scientists. Such collaborative effort is essential for sustaining and enhancing the LatAm´s contributions to the field of NGDA.
拉丁美洲（拉美）在界定新型和已有充分文献记载的遗传疾病方面有着丰富且具有历史意义的作用。然而，人类遗传学领域的不断进步给拉美在该领域相对缓慢的适应过程带来了挑战。在此，我们描述拉美过去和现在对新型遗传疾病发现的贡献，这些疾病通常被称为新型基因 - 疾病关联（NGDA）。我们还描述了考虑到基因组学最新进展的当前发现NGDA的方法。鉴于拉美地区人群和国家的多种不同需求，促进患者、原住民、临床医生和科学家之间的合作势在必行。这种合作努力对于维持和加强拉美对NGDA领域的贡献至关重要。
