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History of genetic disease: the molecular genetics of Huntington disease - a history.

The Huntington disease gene was mapped to human chromosome 4p in 1983 and 10 years later the pathogenic mutation was identified as a CAG-repeat expansion. Our current understanding of the molecular pathogenesis of Huntington disease could never have been achieved without the recent progress in the field of molecular genetics. We are now equipped with powerful genetic models that continue to uncover new aspects of the pathogenesis of Huntington disease and will be instrumental for the development of therapeutic approaches for this disease.

Animals↗

[The Galton whistle and discovery of presbycusis. Images from the history of otorhinolaryngology, exemplified by equipment from the collection of the Ingolstadt German Medical History Museum].

One of the many interests of Sir Francis Galton (1822-1911), a singularly versatile English research worker, was anthropometry, i.e. measuring and comparing physical attributes in men. Here he introduced the concept of eugenics. He thought that the upper hearing threshold for high-pitched tones might be an attribute specific to each species, and in order to prove this he devised a whistle which was later named after him. Using this instrument he found that the upper hearing threshold in animals actually differs very much with the species and that in humans it is regularly depressed with age. The relevant passages of his book Inquiries into Human Faculty of 1883 are quoted in translation. Burckhardt-Merian from Basel, Switzerland, introduced Galton's whistle into otology in 1885. Appropriate instruments were soon developed by König in Paris and Edelmann in Munich and became commercially available. Zwaardemaker in Utrecht, the Netherlands, was the first to systematically investigate hearing in the elderly using Galton's whistle, and he derived from these studies what he called the "prebyacusial law." Technical details of Galton's whistle are described with reference to Edelmann's final refined version of the instrument of 1900. During the first 30 years of this century, Galton's whistle was in wide use, but due to unavoidable inherent flaws it later gave way to the monochord and eventually to tone audiometry.

Aged↗

Radiologic history exhibit. 1934: fateful year in the history of African-Americans in radiology.

The year 1934, just over a third of the way into the first century of the x ray and of the NMA, reflected both successes and difficulties for the minority radiologist. African-Americans constituted disproportionately small numbers within the radiologic community (Fig 9), and few of them were on the AMA's approved list. Membership in major radiologic societies was lacking; many were excluded from applying for the new American Board of Radiology examination. On the other hand, the major radiology journals began to publish articles by African-American authors, a select few radiologists were on the AMA specialist list, and the first steps to board certification were appearing.

Black or African American↗