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Digitised early papers and books on Human and Medical Genetics

With the falling costs of digitisation it is increasingly possible to make available in electronic form some of the classical early works in the field.

For classical genetics this has already been done to an extent by the Electronic Scholarly Publications initiative (www.esp.org) but this does not cover human and medical genetics. Since these early works are generally very expensive and include journal articles as well as books, the Human Genetics Library plans to digitise selected items and make them available in this way rather than attempt to obtain printed copies. Only those with no copyright issues will be considered.

The first few are given below; suggestions for other key papers and books that might be digitised are most welcome.

Joseph Adams (1814)

A treatise on the supposed hereditary properties of disease

This is probably the first book that attempted to clarify inherited disorders according to their pattern of heredity, and which approached the topic from a practical viewpoint. Many of his ideas today appear strikingly "modern", especially the distinction between heredity and "congenital" disorders, foreshadowing dominant and recessive inheritance; and his concept of "disposition" and "predisposition", which we can see reflected in today's Mendelian and multifactorial conditions.

Those wishing to know more about Adams and his work can find details in the papers of Motulsky (Motulsky AG: Joseph Adams (1756 – 1818). A forgotten founder of medical genetics. Archives of Internal Medicine 104, 490 – 496. 1959) and Emery (Emery A E H: Joseph Adams (1756 – 1818). J Med. Genet. 26, 116 – 118, 1989), as well as Harper PS (2008), A Short History of Medical Genetics. Oxford, OUP, pp 25-27.

Due to the size of the paper please select each link below for a section of the full paper:

JC Otto (1803)

An account of an hemorrhagic disposition existing in certain families.

This description of haemophilia by Otto, a Philadelphia physician, is the first in which the inheritance pattern is clearly stated, and indeed the first instance of what we now know as X-linked inheritance in any disorder after John Dalton's description of colour blindness in his own family. Otto clearly recognised both the limitation of the bleeding disorder to males and the possibility of its transmission by healthy female relatives.

The third key element, that daughters of affected males might transmit the condition to their own sons, was not noted until the slightly later paper of Hay (Hay J: Account of a remarkable haemorrhagic disposition, existing in many individuals of the same family. New England Journal of Medicine 2, 221 – 225, 1813).

Hay's paper is reproduced in Landmarks in Medical Genetics, Ed P.S Harper. Oxford, OUP 2008 (pp6-9).

Medical Repository Vol. VI - No I:

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