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Towards the integration of genetic knowledge into clinical practice.
Nephron Clin Pract
March 2011
Kidney Genetics Group, Academic Nephrology Unit, The Medical School, University of Sheffield, Sheffield, UK.
The past three decades have seen a revolution in molecular biology and genetics that have changed the way we define disease, diagnose it, understand pathogenesis, initiate new treatments and assess individual responsiveness to intervention. The 'new genetics' has made its biggest impact on monogenic or 'rare' diseases, although its impact is increasingly being felt in the polymorphic so-called 'common' diseases. In this brief review, we summarise the efforts being made to improve the management of rare kidney diseases in Europe through the EUNEFRON network and also the rapid progress being made internationally in translating genetic knowledge for patient benefit in autosomal dominant polycystic kidney disease, the most common inherited kidney disease.
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