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New method for naming genetic diseases is proposed

BMJ 2003; 326 doi: https://doi.org/10.1136/bmj.326.7386.416/e (Published 22 February 2003) Cite this as: BMJ 2003;326:416
  1. Roger Dobson
  1. Abergavenny

    A new way of naming genetic diseases has been put forward in a report that highlights concerns that names can be wrongly applied, historically inaccurate, or insensitive to patients.

    Eponyms, in particular, are a problem, because it is not always clear whose name is the most appropriate. Names of women researchers are rarely used. Also, nomenclature is at the mercy of researchers with a passion for acronyms, the authors say.

    No such confusion besets the naming of genes, say the authors, because the Human Gene Nomenclature Committee approves and implements human gene names and symbols.

    “Medical genetic conditions are often known …

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