在约翰霍普金斯大学, basic science 和 clinical practice in genetics have had a productive partnership for more than 60 years. Pioneering work in 的 1950s by Victor McKusick in 的 Department of Medicine 和 Barton Childs in 的 Department of Pediatrics led to 的 creation of two divisions of genetics at Johns Hopkins 和 helped lay 的 foundation of 的 的n-novel field.

开始

在摩尔诊所工作, McKusick和他的同事Edmond Murphy, Samuel Boyer 和 Reed Pyeritz provided for 的 first time robust clinical descriptions of genetic diseases, 如 黏多醣症, 马凡氏综合症同型半胱氨酸尿等等 骨骼发育不良.

To organize 的 ever-growing body of knowledge on disorders 和 make it accessible to physicians around 的 world, McKusick 创建 人类的孟德尔遗传, currently known as Online 人类的孟德尔遗传, or 人类. 同时, 在儿科遗传学部门工作, substantial contributions were being made by Childs 和 Barbara Migeon on X chromosome inactivation, 尼尔·霍尔兹曼关于生化遗传学的文章, 和 by Michael Kabak 和 George Thomas on genetic screening tests for Tay-Sachs disease 和 on lysosomal disorders. 也是在那个时候, 黑格室外, Stylianos Antonarakis 和 Gregg Semenza explored molecular causes of hemoglobinopathies, 血友病与血红蛋白水平的调节. 

In 1980, Migeon founded 的 Human Genetics Graduate 程序, which continues to this day 和 has produced more than 300 Ph.D.他们几乎都是杰出的研究者.

In 1988, 的 two genetic divisions were joined physically 和 administratively to form 的 Center for Medical Genetics under 的 direction of Kazazian. The center was home to an active clinical genetics service 和 fostered continued research by leaders in 的 field, 比如塞缪尔·博耶, Kirby史密斯, 哈尔迪茨，艾希林·贾布斯和 大卫·瓦莱.

同时, 丹纳森, 汉姆史密斯, Tom Kelly 和 o的rs were conducting groundbreaking basic research within Johns Hopkins’ Department of Molecular Biology 和 Genetics, including 的 Nobel Prize-winning discovery of restriction enzymes. Collaborations between 的 medical geneticists 和 的 basic scientists were key to many advances made at Johns Hopkins.

基因医学研究所成立

In 1999, 的 Johns Hopkins University 医学院 formed 的 McKusick-Nathans Institute of Genetic Medicine. The name honored two early leaders in 的 field 和 emphasized translation of advances in genetics, molecular genetics 和 genomics to clinical medicine. 

从2000年9月开始，Aravinda Chakravarti served as inaugural director of 的 Institute of Genetic Medicine, where he exp和ed human genetics activities at Johns Hopkins in areas 如 quantitative genetics, 基因组学和共同复杂性状.

In 2015, 的 Institute of Genetic Medicine 和 的 Department of Pathology launched Johns Hopkins 基因组学, 集成了CIDR, DDL, GRCF段, a new CLIA/CAP-approved clinical whole exome sequencing service 和 的 Molecular Diagnostic Lab (MDL). The MDL provides a large fraction of 的 clinical molecular testing for 的 Johns Hopkins Kimmel Cancer Center.

在…的领导下 大卫·瓦莱, 的 institute reached a new distinction in 2019 with 的 formation of 的 McKusick-Nathans Institute of Genetic Medicine | 遗传医学系. 

今天

世界著名的遗传学家 Ambroise Wonkam now serves as 的 director of 的 遗传医学系 和 的 McKusick-Nathans Institute of Genetic Medicine. An advocate of diversifying 的 pool of genetic reference data that scientists often use to make genetic discoveries, Wonkam has made pivotal contributions to research on sickle cell disease, 听力损失, 医学研究伦理和遗传学教育. 

遗传医学系 research includes finding 的 molecular bases of single-gene, 或者孟德尔, disorders; identifying 的 genes that influence complex traits, 如 coronary artery disease; studying 的 genes 和 proteins that regulate whe的r genes are turned on or off; computational biology; molecular biology; developmental genetics; 和 proteomics. The 遗传医学系 is also home to a number of research cores 和 services. 这些包括 的 遗传资源核心设施 (GRCF) 遗传疾病研究中心 (CIDR) 斑马鱼核心中心 和 的 DNA诊断实验室 (DDL).

Ada Hamosh is 的 遗传医学系’s clinical director 和 oversees its clinical activities, 包括多个门诊诊所, an inpatient service 和 an active consult service. Clinics include 的 Epigenetics 和 Chromatin Clinic, which treats patients with disorders of 的 machinery that packages DNA 和 regulates it via chemical “tags”; 的 心血管结缔组织疾病门诊; 和 的 格林伯格骨骼发育不良中心s, 哪家专门治疗骨骼疾病, 比如那些导致身材矮小的.

最后, 的 遗传医学系 is actively involved in medical student, 研究生, 驻地和博士后教育项目.