March 29, 2017

Download A Short History of Medical Genetics by Peter S. Harper PDF

By Peter S. Harper

An eminent geneticist, veteran writer, OMMG sequence Editor, and famous archivist, Peter Harper provides a full of life account of the way our principles and information approximately human genetics have constructed during the last century from the viewpoint of somebody contained in the box with a deep curiosity in its old features. Dr. Harper has researched the historical past of genetics and has had own touch with a number of key figures whose stories and studies expand again 50 years, and he has interviewed and recorded conversations with a lot of those very important geneticists. hence, 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 infrequently retarding- the sphere. 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 in the course of the final touch 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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Charles Darwin and Inherited Disorders It may surprise many people to know that Charles Darwin, not himself a physician, was possibly the most important recorder of human inherited disorders during the 19th century. An inveterate collector of facts with a remarkable web of correspondents across the entire globe, Darwin noted every scrap of information that might relate to variation, regardless of species. Much of this is recorded in the second of his major works, Variation of Animals and Plants under Domestication, which first appeared in 1868, with a second edition published in 1890, after Darwin’s death.

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). (Reproduced by courtesy of the Wellcome Institute for the History of Medicine. From Watson LA, ed. 1896. Physicians and Surgeons of America. ) (A) Continued Before Mendel (B) FIGURE 1–3 (cont’d) (B) Title page of Huntington’s 1872 paper. S. and European reports showed this pattern for such conditions as Friedreich’s ataxia and congenital deafness.

Galton was an entirely quantitative thinker on all of the many topics he took an interest in, whether it was “the art of travel” (based on his early expedition to South-West Africa, now the Republic of Namibia), the efficacy 41 42 THE FOUNDATIONS OF HUMAN AND MEDICAL GENETICS 1–15 Francis Galton (1822–1911) (from Bulmer, 2003). Galton, first cousin to Charles Darwin through their grandfather Erasmus Darwin, was born in Birmingham and brought up in a wealthy family. His inclination to measurement was first shown in his expedition to South-West Africa, which led later to his book The Art of Travel (1872), but he also applied it to meteorology, to the analysis of fingerprints, and to anthropometric measurements, providing the foundations for quantitative genetics and statistics generally.

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