关键词: dysmorphology genetics medical genetics memoir

Mesh : Humans Genetics, Medical History, 20th Century History, 21st Century Human Genetics

来  源:   DOI:10.1002/ajmg.a.63514

Abstract:
Genetics has become a critical component of medicine over the past five to six decades. Alongside genetics, a relatively new discipline, dysmorphology, has also begun to play an important role in providing critically important diagnoses to individuals and families. Both have become indispensable to unraveling rare diseases. Almost every medical specialty relies on individuals experienced in these specialties to provide diagnoses for patients who present themselves to other doctors. Additionally, both specialties have become reliant on molecular geneticists to identify genes associated with human disorders. Many of the medical geneticists, dysmorphologists, and molecular geneticists traveled a circuitous route before arriving at the position they occupied. The purpose of collecting the memoirs contained in this article was to convey to the reader that many of the individuals who contributed to the advancement of genetics and dysmorphology since the late 1960s/early 1970s traveled along a journey based on many chances taken, replying to the necessities they faced along the way before finding full enjoyment in the practice of medical and human genetics or dysmorphology. Additionally, and of equal importance, all exhibited an ability to evolve with their field of expertise as human genetics became human genomics with the development of novel technologies.
摘要:
在过去的五到六十年中,遗传学已成为医学的重要组成部分。除了遗传学,一个相对较新的学科,形态学,在为个人和家庭提供至关重要的诊断方面也开始发挥重要作用。两者都已成为解开罕见疾病不可或缺的一部分。几乎每个医学专业都依赖于在这些专业中经验丰富的个人来为向其他医生展示自己的患者提供诊断。此外,这两个专业都依赖于分子遗传学家来鉴定与人类疾病相关的基因。许多医学遗传学家,畸形学家,分子遗传学家在到达他们占据的位置之前走了一条迂回的路线。收集本文中包含的回忆录的目的是向读者传达,自1960年代末/1970年代初以来为遗传学和形态学发展做出贡献的许多人都是基于许多机会而旅行的,在医学和人类遗传学或形态学的实践中找到充分的享受之前,回答他们一路上面临的必需品。此外,同样重要的是,随着新技术的发展,人类遗传学成为人类基因组学,所有人都表现出了在他们的专业领域中进化的能力。
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