Background During the past 60 years, modern genetics has steadily evolved from diagnostics to therapeutics. However, treatment of genetic disorders is still in its infancy, with the advent of genome editing as its greatest promise. Genetic diagnosis was formally initiated in 1959 by Jérôme Lejeune (Paris, 1926–1994), who reported for the first time that trisomy 21 was the cause of the Down syndrome, the most frequent aneuploid anomaly in human newborns, characterized by intellectual disability and physical malformations [1]. After this pivotal discovery, many other chromosomopathies -such as the “cri du chat” syndromeand distinct genetic abnormalities that produce congenital human illnesses were described by Lejeune’s team [2, 3]. Initially using karyotyping as the method for identifying visible chromosomal anomalies, the technique was only ready for chromosomal aberrations observable by the naked eye or via the microscope. Although genetic diagnosis does not cure a disease, it constitutes a tremendous step forward in the way patients could be subsequently treated. Furthermore, understanding and providing a tag that describes a particular genetic disease precludes from undergoing unnecessary treatments, and it is also a source of help for the patient and families via charitable organizations or governmental health support.

中文翻译：

---

Jérôme Lejeune 于 25 年前去世

背景 在过去的 60 年中，现代遗传学已经从诊断学稳步发展到治疗学。然而，遗传疾病的治疗仍处于起步阶段，基因组编辑的出现是其最大的希望。基因诊断于 1959 年由 Jérôme Lejeune（巴黎，1926-1994）正式发起，他首次报道了 21 三体是唐氏综合症的原因，唐氏综合症是人类新生儿中最常见的非整倍体异常，其特征是智力残疾和身体畸形[1]。在这一关键发现之后，Lejeune 的团队描述了许多其他染色体病——例如“cri du chat”综合征和导致先天性人类疾病的明显遗传异常 [2, 3]。最初使用核型分析作为识别可见染色体异常的方法，该技术仅适用于肉眼或显微镜观察到的染色体畸变。虽然基因诊断不能治愈疾病，但它在患者随后的治疗方式上向前迈进了一大步。此外，了解和提供描述特定遗传疾病的标签可以避免进行不必要的治疗，而且它也是通过慈善组织或政府健康支持为患者和家人提供帮助的来源。