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The population of the province of Newfoundland and Labrador, consisting of the island of Newfoundland, and Labrador on the Canadian mainland, is genetically isolated. This isolation is evidenced by an overabundance of several monogenic disorders. For example, there are 27 entries in Online Mendelian Inheritance of Man (http://www.ncbi.nlm.nih.gov/omim/) whose genetic basis was significantly elucidated using Newfoundland families. This number of entries reflects a 10-fold increase compared to the three neighbouring provinces (Nova Scotia, New Brunswick and Prince Edward Island) when adjusted for population size. Like other genetic isolates that have arisen from a limited founder population, Newfoundland represents an exceptional resource for identifying disease related genes for monogenic disorders.
In a recent publication it has been demonstrated that Newfoundland and Labrador is also an exceptional resource for identification of complex diseases.
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