关键词: Genetics John Opitz Pediatrics SLO syndrome Sicily Smith-Lemli-Opitz

Mesh : History, 20th Century Humans Pediatrics / history United States Genetics, Medical / history Embryology / history History, 21st Century Italy

来  源:   DOI:10.1186/s13052-024-01711-z   PDF(Pubmed)

Abstract:
BACKGROUND: John M. Opitz, a towering figure in both stature and scientific achievement, left an indelible mark on the fields of genetics, pediatrics, and embryology. Born in 1935 in Hamburg to a Jewish family, Opitz\'s early life was marked by adversities. Despite these challenges, he pursued a remarkable career, immigrating to the United States at 15 years and becoming a renowned scientist in institutions like Iowa State University and the University of Wisconsin, where he made groundbreaking contributions to clinical genetics.
METHODS: A testament to his compassionate nature, Opitz dedicated himself to understanding and treating rare genetic disorders, earning him eponymous recognition in several medical conditions. His impact extended beyond academia, as evidenced by his collaborative efforts with Sicilian universities to advance clinical genetics in Italy. Opitz\'s teaching style emphasized simplicity, empathy, and meticulous clinical examination, leaving an indelible mark on students and colleagues.
CONCLUSIONS: John M. Opitz\'s towering intellect, compassionate demeanor, and profound impact on medicine and genetics made him a figure of enduring significance. His legacy lives on through the countless lives he touched, the knowledge he transmitted, and the enduring friendships he forged. In remembering John Opitz, we honor not only a man, but also a myth-a symbol of resilience, humanity, and scientific excellence.
摘要:
背景:JohnM.Opitz,在身高和科学成就上都是一个高耸的人物,在遗传学领域留下了不可磨灭的印记,儿科,和胚胎学。1935年生于汉堡的一个犹太家庭,Opitz的早期生活充满了逆境。尽管面临这些挑战,他追求非凡的事业,15年移民到美国,成为爱荷华州立大学和威斯康星大学等机构的著名科学家,在那里他为临床遗传学做出了开创性的贡献。
方法:证明了他富有同情心的本性,Opitz致力于了解和治疗罕见的遗传性疾病,在几种医疗条件下为他赢得了同名的认可。他的影响超越了学术界,他与西西里大学在意大利推进临床遗传学的合作努力证明了这一点。奥皮茨的教学风格强调简单,同理心,细致的临床检查,给学生和同事留下不可磨灭的印记。
结论:约翰·M·奥皮茨高耸的智力,富有同情心的举止,对医学和遗传学的深刻影响使他成为一个具有持久意义的人物。他的遗产通过他感动的无数生命得以延续,他传递的知识,以及他建立的持久友谊.记住约翰·奥皮茨,我们不仅尊重一个人,也是一个神话——韧性的象征,人性,和科学卓越。
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