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This review article discusses genetic, clinical and evolutionary aspects of Gaucher disease. Gaucher disease is an autosomal recessive disorder of lipid storage. It is very common worldwide. This review covers traditional laboratory and genetic testing for Gaucher disease, with specific attention given to the effectiveness and limitations of these tests. Treatment options, including experimental gene therapy, are covered as well. We explored the prevalence of this disorder and compared rates of occurrence of different mutations among different ethnic groups. Special attention has been given to the evolutionary aspect of Gaucher disease – we discussed anthropologic and animal studies and analyzed the most popular hypothesis of the selective advantage of Gaucher disease. This review article also discusses the rates of occurrence of neurological, pulmonary and cardio-vascular disease in Gaucher disease patients.