Victor Almon McKusick: In the footsteps of Mendel and Osler

Victor Almon McKusick: In the footsteps of Mendel and Osler
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DOI:
10.1002/ajmg.a.62451
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发表时间:
2021-08-31
影响因子:
2
通讯作者:
Francomano, Clair A.
Francomano, Clair A.
中科院分区:
生物学3区
文献类型:
--
作者:
Francomano, Clair A.

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维克托阿尔蒙·麦克库斯克(VAM)被广泛认为是医学遗传学领域之父。1957年,他在约翰霍普金斯建立了美国最早的医学遗传学诊所之一,并制定了一个强大的培训计划,具有教育,研究和临床护理的三方使命。多年来,成千上万的临床医生和科学家通过医学和分子遗传学短期课程接受了教育,该课程由VAM与托马斯罗德里克博士于1960年创立。他的在线人类孟德尔遗传(OMIM)是人类基因和遗传疾病的目录,是地球仪遗传学家的权威参考。在他的整个职业生涯中,他是绘制人类基因组的倡导者。他与Frank Ruddle博士在70年代早期合作建立了国际人类基因图谱工作室,并且是人类基因组计划的热心支持者。他是人类基因组组织的创始主席和《基因组学》杂志的创始编辑。他对医学遗传学领域的巨大贡献得到了多项荣誉的认可,并于2007年获得了日本奖。
Victor Almon McKusick (VAM) is widely recognized as the father of the field of medical genetics. He established one of the first medical genetics clinics in the United States at Johns Hopkins in 1957 and developed a robust training program with the tripartite mission of education, research, and clinical care. Thousands of clinicians and scientists were educated over the years through the Short Course in Medical and Molecular Genetics, which VAM founded with Dr. Thomas Roderick in 1960. His Online Mendelian Inheritance in Man (OMIM), a catalog of human genes and genetic disorders, serves as the authoritative reference for geneticists around the globe. Throughout his career he was an advocate for mapping the human genome. He collaborated with Dr. Frank Ruddle in founding the International Human Gene Mapping Workshops in the early 70's and was an avid proponent of the Human Genome Project. He was the founding President of the Human Genome Organization and a founding editor of the journal Genomics. His prodigious contributions to the field of medical genetics were recognized by multiple honors, culminating with the Japan Prize in 2007.