A Short History of Medical Genetics by Peter S. Harper

By Peter S. Harper

An eminent geneticist, veteran writer, OMMG sequence Editor, and famous archivist, Peter Harper provides a full of life account of ways our rules and information approximately human genetics have built during the last century from the point of view of somebody contained in the box with a deep curiosity in its historic elements. Dr. Harper has researched the heritage of genetics and has had own touch with a bunch of key figures whose thoughts and stories expand again 50 years, and he has interviewed and recorded conversations with a lot of those vital geneticists. therefore, instead of being a standard background, this publication transmits the essence of the tips and the folk concerned and the way they interacted in advancing- and occasionally retarding- the sector. From the origins of human genetics; during the contributions of Darwin, Mendel, and different giants; the id of the 1st human chromosome abnormalities; and up during the of entirety of the Human Genome venture, this Short History is written within the author's attribute transparent and private type, which appeals to geneticists and to all these attracted to the tale of human genetics.

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Darwin’s work, in which human examples are mixed in with comparable observations on dogs, cattle, pigeons, and plants, provides an early illustration of another important theme in the development of human and medical genetics: the universality of genetic processes. This principle was first recognized when Camerarius (see later discussion) discovered sexual processes Before Mendel in plants in 1694. From the outset, workers in genetics, including medical geneticists, have moved easily between species, often using evidence from one species to support an argument relating to another.

Osler himself reported a number of new conditions, including hereditary hemorrhagic telangiectasia, although he was less concerned with the possible underlying hereditary mechanisms than with the clinical aspects. McKusick (1976) described Osler’s contributions in his paper, Osler as a Medical Geneticist. Not all of these early reports on inherited disease showed the multigenerational transmission pattern characteristic of autosomal dominant inheritance. F I G U R E 1–3 (A) George Huntington (1850–1916).

Mendel Gregor Mendel (Fig. 1−19) never worked or wrote on problems of human inheritance, nor indeed on that of any animal species; his breeding studies were entirely confined to plants. It is unlikely that this was the result of any conscious or specific restriction related to his being based in a monastic setting; rather, the policy of his order and its enlightened abbot, Cyrill Knapp, was to place his religious community at the forefront of agricultural improvement and scientific thought for the benefit of the local population.

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