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Translating Aboriginal genomics — four letters Closing the Gap
Author(s) -
Baynam Gareth S,
Pearson Glenn,
Blackwell Jenefer
Publication year - 2016
Publication title -
medical journal of australia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 131
eISSN - 1326-5377
pISSN - 0025-729X
DOI - 10.5694/mja16.00513
Subject(s) - closing (real estate) , library science , citation , history , computer science , political science , law
379 TO THE EDITOR: Rare diseases (RD) are typically complex, chronic, often multisystem, and frequently genetic disorders associated with significant morbidity and mortality. They affect up to 6e8% of the population and 30% of AustralianswithRDwaitedbetween 5 to 30 or more years for a diagnosis. There are now game-changing clinical genomic approaches that are reducing these diagnostic odysseys. However, parallel to hitherto unachieved improvements in RD diagnosis is the known and recently demonstrated risk that Indigenous Australians will not enjoy the same diagnostic opportunities as non-Indigenous Australians.