European genomics initiative on Primary Inherited Aminoacidurias

3 October 2005

Primary Inherited Aminoacidurias (PIA) are a group of rare genetic diseases involving defects in plasma membrane amino acid transporters which impair normal renal absorption of amino acids. A new EU-funded project aims to determine the genetic basis of these disorders, along with work intended to elucidate the mechanisms of disease and design therapeutic interventions. Eugindat (the European genomics initiative on disorders of plasma membrane amino acid transporters) will involve partners from 5 European countries; a key objective for the project is to establish a clinical and genetic description for PIA with a shared database of information on candidate gene studies that researchers can access. Other arms of the project will include a functional genomics work and the study of potential disease-associated polymorphisms in genetically isolated human populations. Project completion is scheduled for early 2007.

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