Genetic conditions should be named in a way that is historically accurate and sensitive to patients, according to a recent article in the journal Nature Reviews Genetics.
The authors say that naming diseases after the doctors who described them can cause problems, as it is not always clear whose name is most appropriate and names of women researchers are rarely used, reports last week's British Medical Journal. It also criticises the over-enthusiastic use of acronyms, and calls upon the human genetics community to consider new ways of naming genetic disorders.
The article says that 'medical genetic conditions are often known by a confusing array of synonyms, acronyms and eponyms that frequently distort historical accuracy'. It cites the inherited muscle wasting disease Duchenne muscular dystrophy as an example, saying that the condition was clearly described by the physician Edward Meryon some 17 years before Guillaume Duchenne's work. It also criticises the use of acronyms with negative connotations, such as that for the syndrome known as CRASH (corpus callosum hypoplasia retardation adducted thumbs spastic paraparesis hydrocephalus). The authors, from the Royal Devon and Exeter Hospital, propose that syndromes and conditions should all be given a historically-accurate 'official name'.
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