As a teenager just moved to Iowa from war-ravaged Germany in 1951, John M. Opitz, M.D., wanted to study 发育生物学, but his “very Prussian” mother insisted he go to medical school instead.
在这中间的50多年里，这位母亲坚持的智慧已经显现出来. 犹他大学医学院的医学遗传学家和儿科学教授已经成为世界上最重要的医学遗传学权威之一, the medical discipline dedicated to identifying, 治疗, and understanding 创etic disorders, some of them so rare that only a handful of people worldwide are known to have them.
Opitz的电话每天都能接到来自世界各地的医生打来的电话，他们想要了解遗传综合症的信息：特定疾病的生理和生物学特征是什么? 他们是如何被对待的? 原因是什么？? 在他的领域里，很少有人能像奥皮茨那样为病人和医生找到这些问题的答案, who joined the U of U faculty in 1997. 表彰他在过去四十多年里对医学遗传学的开创性贡献, Opitz将在10月11日举行的第12届国际人类遗传学大会/ASHG第61届年会上被授予美国人类遗传学学会（ASHG）的最高荣誉——威廉·艾伦奖. 2011年11月13日，蒙特利尔.
Opitz has defined and documented numerous 创etic syndromes, 其中一些以他的名字命名, 开创了表现型, or identifying the physical and biological manifestations of 创etic disorders, 并为寻找与许多遗传疾病相关的基因奠定了基础. 在这个过程中, 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. 以威廉·艾伦命名, a pioneering American physician in undertaking extensive research in human 创etics, 艾伦奖每年颁发给一位长期对人类遗传学做出深远贡献的科学家.
“约翰·奥皮茨是该领域最受尊敬、最具前瞻性的遗传学家之一,” said ASHG executive vice president, 乔安Boughman, Ph.D. “ASHG想要表彰Dr. 他对人类遗传学研究做出了重大而深远的科学贡献. 他被授予今年的威廉·艾伦奖——ASHG每年颁发的最高奖项——以表彰他在医学遗传学方面取得的革命性进步.
哈里·奥斯特，m.s.D., chair of the ASHG Awards Committee, 阿尔伯特·爱因斯坦医学院病理学和遗传学教授，蒙蒂菲奥里医学中心基因和基因组测试主任, 他在表型分析和识别新的遗传综合征方面具有里程碑意义的工作使Opitz成为该奖项的一致选择. “In this 创omic era, the 创etics is easy, but the phenotypes are hard,” Ostrer says. “Phenotypes were always hard, but Dr. Opitz has a great eye and a great memory.”
76岁的奥皮茨, 谁是高的, 当他走在盐湖城大发娱乐和初级儿童医疗中心的大厅里时，他苗条的身材是毋庸置疑的, says identifying 创etic syndromes has never been his primary objective. “My goal simply has been to care for the patients and their families,” he says.
他出生在离北海不远的德国汉堡，二战对他的生活产生了不可磨灭的影响. When the Allied bombs began dropping on Hamburg when he was still a young child, 他的家乡成了一片废墟. 说话温和的奥皮茨, whose voice still carries a German accent, 记得小时候看着自己的家乡建筑物燃烧，尸体躺在街道上. “One becomes a survivor,” he says, pausing. “Life as a survivor is very difficult.”
战争开始后不久，奥皮茨和他的母亲分开了近7年. He contracted tuberculosis and spent several years in a sanatorium, much of it in isolation because of the highly contagious nature of his illness. After regaining his health, he went to Nuremburg to live with his mother. 但, unable to care for him in that bomb-ravaged city, she sent young Opitz to live with his grandfather until the war ended. 最后, in 1945, 他与母亲团聚，并在纽伦堡生活了六年，当时母亲担任美国驻德国大使.S. interpreter during the war-crimes trials.
1951年，他们移民到爱荷华市，他的叔叔是爱荷华大学的大提琴教授 爱荷华大学. 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.”
He studied zoology at the 爱荷华大学 under Emil Witschi, a renowned zoologist and expert in 创etics, 发育生物学, 和演化, and began medical school at Iowa in 1955. 1959年毕业后, 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 pioneer in medical 创etics, and David W. 史密斯,米.D., considered the father of dysmorphology – the study of structural defects, particularly con创ital malformations, 在人们. 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以及疾病的症状，以诊断和理解它们. 当病人死亡时, he took part in the autopsies to learn the biological basis of their disorders, something he continues to this day.
当时, 在60年代早期, Opitz devoted himself to understanding the 创etic, 发展, 和演化ary factors that influence abnormal human development. This, combined with his observations of patients, says his U of U colleague John C. 凯里,M.D., a medical 创eticist and professor of pediatrics, allowed Opitz to begin laying the foundation for clinical 创etics, 描述表型, and identifying numerous syndromes, 包括:
- Smith-Lemli-Opitz综合征, a development disorder caused by a defect in the way cholesterol is synthesized, which can result in profound mental disability, learning and 行为al problems and physical malformations and maladies such as fused second and third toes or extra fingers and toes; malformations in the heart, 肺, and kidneys; microcephaly (small head), 还有很多其他的医疗问题. sls是一种常染色体隐性遗传病，当父母双方都拥有突变的基因拷贝时就会遗传下去 DHCR7基因.
- Opitz G/BBB综合征, 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, 还有其他问题. X染色体连锁形式的综合征只发生在男性身上，是由基因突变引起的 MID1 创e. It is estimated to affect between one in 50,000 to 100,000 males. Incidence of the autosomal dominant form of the disorder is unknown.
- C综合症, an extremely rare disorder in which severe mental disability is common, along with physical malformations that include a triangular shaped head, caused by the premature union of the skull bones; narrow pointed forehead; flat nasal bridge; short nose; abnormalities of the ear; loose skin, 还有其他问题. This syndrome is estimated to occur in one in 800,000 to 1 million people.
- Opitz-Kaveggia （FG）综合征, an X chromosome-related disorder that affects intelli创ce, 行为, and causes a range of physical malformations and maladies, 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. 基因突变 MED12基因 创e and six regions of the X chromosome have been linked to FG syndrome. Although the prevalence of the disorder is not known, only several hundred cases have been reported worldwide.
Amid his landmark work that began in the 1960s and that has continued for decades, Opitz还创立了 American Journal of Medical Genetics in 1976, becoming its first editor-in-chief and remaining in that position until 2001. A highly regarded forum for scholarly analysis of phenotypes of 创etic disorders, the first volume appeared in 1977. 最初, the journal was published quarterly, but the reception and demand for it led to monthly publication the following year. Opitz stepped down as editor-in-chief in 2001 and was succeeded by Carey.
“奥巴马博士的开创性工作. Opitz延伸到大发娱乐现在所认为的临床遗传学历史的早期,凯里说。, 他的老同事. “毫无疑问，他是这个领域的先驱，现在是时候承认人类遗传学的巨人之一了。.”
马克西米利安·穆恩克，m.m.D., 美国国立卫生研究院基因组研究所医学遗传学主任, has known Opitz for 25 years through the AJMG and will introduce him at the Montreal award ceremony. He describes Opitz as a rare scholar and polyglot who speaks German and reads ancient, 中世纪的, 以及拉丁文的现代文本, 法国, 和意大利. 但, 除了, his broad training and background in embryology, 解剖学, 病理, 发育生物学, and other disciplines means he understands the “language” of those fields.
结合, 这些才能使奥皮茨能够“在时间、母语和职业之间来回穿梭”，以很少有研究人员和医生能做到的方式从事他的工作. Above all this, he never loses sight of the patients he serves. “他是一位最富有同情心的医生，近50年来，他所见过的病人和家属都很崇拜他,Muenke说. “The only surprise is that he didn’t receive this award 25 years ago.”