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Genetic disorders

Previous visitors to this section of the website will note that it has not changed significantly. Why not contribute a short piece on the genetics disorder for which you have the expertise?

Please contact the editor with suggestions (HarperPS@Cardiff.ac.uk).

Huntington's disease has been given as a sample and could be greatly expanded.

Huntington's disease

paper

George Huntington's 1872 description of ''Hereditary chorea'', now known as Huntington's disease, is a classic in the medical literature.  In less than 2 pages it gives the key features of the disorder, including its inheritance (never skips a generation), its progressive nature and its clinical features (including mental involvement).

Although earlier reports are now recognised as being the same disorder, Huntington's description is deservedly remembered as the one that establshed the condition as a specific entity, separate from the other , common types of choreic movement disorder.


Portraits of George Huntington as a young and old man

George Huntington (1850-1916) described the condition while working as a newly qualified doctor in the rural general practice of his father and grandfather on Long Island, New York State. Together their observations covered 78 years.


Painting by George HuntingtonCartoon of Huntington surrounded by rowdy children

Geroge Huntington did not continue working on Hereditary chorea but went into general practice in Ohio. He never published another paper in his life - yet his name is remembered from the single one he did write.



In 1993 the HD gene was isolated, largely thanks to research on the extensive kindred with the disorder living around Lake Maracaibo in Venezuela. This is a striking example of the key importance of the contribution families' can make in advancing knowledge of their disorder, especially in the mapping and isolation of the genes involved.

Huntington's disease: Learning from the past

Quite apart from the history of HD itself, it provides a historical paradigm for many more general aspects of human and medical genetics.

This was the theme of a lecture to the September 2005 World Congress on Huntington's Disease. It is hoped that placing this presentation on the genmedhist.org website will encourage others to make historical contributions for this and other inherited disorders.

Presentation

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