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In the article “Technical standards and guidelines: Molecular genetic testing for ultra-rare disorders” in the October 2005 issue of Genetics in Medicine, the definition of a rare disorder, rather than an ultra-rare disorder, was used in section URD 2.1 on page 572. The authors would like to clarify these definitions.
A rare disorder, as defined by the Orphan Drug Act of 1983, affects populations smaller than 200,000 individuals in the USA. An ultra-rare disorder, as defined by common usage, is a disease occurring in less than 2,000 individuals in the USA.
Reference
Maddalena A, Bale S, Das S, Grody W, Richards CS and the ACMG Quality Assurance Committee. Technical standards and guidelines: molecular genetic testing for ultra-rare disorders. Genet Med 2005; Oct: 8: 571–583.
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The online version of the original article can be found at 10.1097/01.GIM.0000182738.95726.ca
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Erratum. Genet Med 8, 735 (2006). https://doi.org/10.1097/00125817-200611000-00009
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DOI: https://doi.org/10.1097/00125817-200611000-00009