（盐湖城）——1950年，作为一个刚从饱受战争蹂躏的德国搬到爱荷华州的少年， John M. Opitz, M.D., wanted to study developmental biology, 但他“非常普鲁士”的母亲坚持让他去医学院.
其间的65年证明了她坚持的智慧. 犹他大学医学院儿科学教授, Opitz是世界上最重要的权威之一 medical genetics, the discipline dedicated to identifying, treating and understanding human genetic disorders, 其中一些非常罕见，世界上只有少数人患有这种疾病. 他的电话经常响起，来自世界各地的医生打来电话，寻求有关遗传综合征的信息：特定疾病的生理和生物学特征是什么? What causes them? Can they be treated?
Since beginning his medical career in the 1960s, 他定义并记录了许多遗传综合征, a half dozen of which bear his name, pioneered phenotype, 或者分析遗传疾病的生理和生物学表现, 为寻找与遗传疾病相关的基因奠定了基础. In the process, 他为全世界的医学遗传学家建立了学习如何分析表型的框架.
In the 1950s, while still a student, 他重新发现了发展场的概念, 它是由一群细胞组成的，这些细胞在几千年的时间里通过代代相传的物种特征和特征，从进化的基础上形成胚胎. “发育领域使野鸭成为野鸭，而不是蓝鸭, and a teal not a mallard," Opitz says, "and because of this, 绿头鸭和山鸭能分辨出它们之间的区别, hence don't interbreed and are, by definition, different species."
他将发育领域的概念引入医学遗传学，对理解人类畸形和畸形综合征做出了重大贡献.
In 2011, 美国人类遗传学学会表彰了奥皮茨对医学遗传学的开创性贡献，并授予他该组织的最高荣誉——威廉·艾伦奖, 每年颁发给长期以来对人类遗传学作出深远贡献的科学家.
现年81岁，不再为视力下降的病人看病, Opitz has gained another prestigious honor, this one from his birth country. On Dec. 3, 2016, in a ceremony in Salt Lake City, 他获得了德意志联邦共和国功绩勋章，也被称为联邦十字勋章（BVK），这是德国政府颁发的唯一的国家勋章. 该奖项旨在表彰那些对建立德国与其他国家之间的关系产生深远影响的人. Opitz, 在德国和其他欧洲国家教学和从事学术工作数十年的人, was nominated 
是两位德高望重的德国医生同事为BVK做的, Christoph Viebahn, of the University of Göttingen, and Jürgen Spranger, 美因茨大学儿科名誉主席.
"John is gifted with a sharp eye, utter carefulness, bedazzling memory, ability to focus on the essential facet, immense working power and incessant curiosity," Spranger says. 他描述了如此多的新疾病，以至于他不得不用病人的首字母来命名."
Salt Lake City attorney Charles W. 前德国驻犹他州名誉领事达尔奎斯特二世衷心推荐奥皮茨获奖. "Any time scientists of Dr. Opitz的才华和能力跨越国界, it builds a relationship between our two nations," Dahlquist says. “他是美国和德国的杰出代表."
A Life Shaped By War
他出生在靠近北海的德国汉堡，二战对他的生活产生了不可磨灭的影响. 在战争前和战争期间，他与母亲分离了将近七年, 他感染了肺结核，在疗养院的隔离病房里呆了15个月. 说话温和的奥皮茨还记得小时候眺望家乡的情景, buildings aflame and bodies in the streets.
"One becomes a survivor," he says. "Life as a survivor is very difficult."
After his father died of tuberculosis in 1941, 他的母亲无法在那个被炸弹蹂躏的城市里照顾他, 所以她把小奥皮茨送到他祖父那里，直到战争结束. 1947年，他终于和母亲团聚，在纽伦堡住了三年. Prior to that she had served as U.S. interpreter during the war-crimes trials. In 1950, 他们移民到爱荷华市，他的叔叔是爱荷华大学大提琴和室内乐教授. Opitz immediately took to his new country.
"There was something about America," he says. “它的开放、善良和善良的人民——即使是对一个以前的敌人的孩子——吸引了我."
他在爱荷华大学学习动物学，师从埃米尔·威奇, a renowned zoologist and expert in genetics, developmental biology, and evolution, 并于1955年进入爱荷华大学医学院学习. After graduating in 1959, 他在威斯康星大学开始了他的儿科住院医师和研究员生涯, where he studied under Klaus Patau, Ph.D., a plant cytogeneticist, and David W. Smith, M.D., 一位儿科内分泌学家被认为是畸形学之父——研究结构缺陷, particularly congenital malformations, in people. 史密斯向奥皮茨介绍了威斯康辛州的一家严重智障儿童和成人居住的机构, 在那之后不久，他开始了他一生的工作，学习识别身体和生物的迹象和疾病的症状. 当病人死亡时，他参与尸体解剖，以了解他们疾病的生物学基础.
At that time, in the early 1960s, Opitz devoted himself to understanding the genetic, developmental, 以及影响人类异常发育的进化因素. 他的同事John C. Carey, M.D., a medical geneticist and professor of pediatrics, 让奥皮茨开始为临床遗传学奠定基础, delineating phenotypes and identifying syndromes, including:
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Smith-Lemli-Opitz syndrome (SLOS), 由胆固醇合成方式的缺陷引起的发育障碍, which can result in profound mental disability, learning and behavioral problems and physical malformations and maladies such as fused second and third toes or extra fingers and toes; malformations in the heart, lungs, and kidneys; microcephaly (small head), and numerous other congenital anomolies.
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Opitz G/BBB syndrome, a condition with two forms with physical malformations that include wide-spaced eyes; defects of the larynx; trachea; and esophagus; heart defects; absence of tissue connecting the left and right halves of the brain, and other defects.
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C syndrome, 一种极其罕见的疾病，常见的是严重的精神残疾, 还有身体上的畸形，包括三角形的头, caused by the premature union of the frontal skull bones; narrow pointed forehead; flat nasal bridge; short nose; abnormalities of the ear; loose skin, and other problems.
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Opitz-Kaveggia (FG) syndrome, 一种影响智力和行为的X染色体相关疾病, 并导致一系列身体畸形和疾病, including a large head (macroencephaly); heart defects; seizures; weak muscle tone; broad thumbs and toes; widely set eyes; abnormalities in the tissue connecting the left and right halves of the brain; small ears, and downward pointing outside corners of the eye. 全世界仅报告了几百例FG综合征1-7型.
Simple Goal
尽管他以发现和鉴定遗传疾病而闻名, Opitz, 多年来，当他走在大发娱乐和初级儿童医院的走廊上时，他高大修长的身影是显而易见的, 他说鉴定遗传综合症从来都不是他的主要目标. “我的目标只是照顾病人和他们的家人."
随着他在60年代开始的具有里程碑意义的工作，Opitz创立了 American Journal of Medical Genetics 1976年，成为首任主编，并一直担任该职位直到2001年. 一个备受推崇的论坛，对遗传疾病的表型进行学术分析, the first volume appeared in 1977. The journal was initially published quarterly, 但是对它的接受和需求导致它在第二年每月出版.
"The seminal work of Dr. Opitz延伸到大发娱乐现在所认为的临床遗传学历史的早期," says Carey, who served as editor-in-chief of the American Journal of Medical Genetics from 2001 until recently. "He is unarguably a pioneer in the field."
他在识别和描述遗传综合征和疾病方面的宝贵贡献为Opitz赢得了国际声誉, 但他对医学和科学的热情不止于此.
作为一名对科学史很有兴趣的学生，他写过很多关于重要人物的文章，比如玛丽. Lyon, 一位英国遗传学家发现了X染色体失活——哺乳动物两条雌性X染色体中的一条失活的过程，具有重要的生物学意义. 唐氏综合症的英国医生. 他对历史的兴趣与第三种激情交织在一起, 其中一项将通过奥皮茨的慷慨使美国受益：收集罕见的历史书籍和文献.
Donating a Rare Collection
Opitz now is working with the U's Spencer S. Eccles Health Sciences Library 捐赠书籍，比如1725年版的《大发娱乐》" (On the Fabric of the Human Body), originally written and illustrated by Andreas Vesalius and one of the most influential books on human anatomy; an 1848 letter about barnacles written by Charles Darwin; an 1866 reprint of the first paper on Mendalian Genetics, written by Gregor Mendel, the founder of the science of genetics; and a less-than-flattering report card that Mendel signed and issued to a student for the 1860-61 school year. 数十本其他书籍和文件也将被捐赠, 包括1538年拉丁文翻译的亚里士多德文集.
据Melissa L. 埃克尔斯健康科学图书馆副主任Rethlefsen说. "We're very excited," she says. “这所大学在发育生物学和遗传学领域的起源方面拥有如此强大的收藏，这真的很好."
图书馆正在建造一个地窖，以便在适当的温度和湿度下保存这些文件. 许多古老的文本都是用拉丁文写的——对奥皮茨来说没有问题, a classical scholar who reads the language, 他会说意大利语，母语是德语和英语. With additional training in embryology, anatomy, pathology, developmental biology and other disciplines, he has skills few can avail.
Although retired from seeing patients, 奥皮茨在美国儿科学系有一间办公室，同时从事他在学习医学之前曾感兴趣的学科：发育生物学的研究. 他仍然发表文章，并与其他医生和科学家合作——他发表了500多篇同行评议的研究, books, 章节和其他作品，静静地做着他的工作.
Opitz在他的职业生涯中获得了许多其他奖项, 包括入选德国科学院——利奥波迪纳——以及博洛尼亚大学的荣誉学位, Italy, Kiel and Lübeck, Germany, Copenhagen and Ohio State University. 没有人会注意到他自己，奥皮茨以自己的方式为获得BVK感到自豪.
“有一些非常优秀的人获得了这个奖项，”他平静地说.
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