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Article
June 2, 1989

Forty Years of Medical Genetics

Author Affiliations

Dr McKusick is University Professor of Medical Genetics at The Johns Hopkins University and Hospital, Baltimore, Md.

Dr McKusick is University Professor of Medical Genetics at The Johns Hopkins University and Hospital, Baltimore, Md.

JAMA. 1989;261(21):3155-3158. doi:10.1001/jama.1989.03420210103024
Abstract

I AM often asked why I shifted from cardiology to medical genetics; I did not. In fact my activities in the two fields developed in parallel; it was a matter of phasing out cardiology and phasing in medical genetics. Indeed, my first published piece of clinical investigation was on a genetic topic, the syndrome of spots and polyps (1949), and my first book was Heritable Disorders of Connective Tissue (first published in 1956). In 1952 when I completed house-staff training there was no clinical discipline of medical genetics and no formal training program. So I trained in cardiology, which brought my attention to the Marfan syndrome because of the conspicuous cardiological complications.

In the early 1950s, for 5 years after completing the chief residency at Johns Hopkins in Baltimore, Md, I was a junior faculty person. I pursued the analysis of heart sounds and murmurs by a method called spectral

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