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» Home » Research Projects » National Grants II - 2008 » GENOWIL

» GENOWIL

Project title: DIAGNOSIS AND PROGNOSIS VALUE OF GENETIC ANALYSIS AND GENOTYPE-PHENOTYPE CORRELATIONS IN WILSON DISEASE PATIENTS

Project number: PN II 42-169

Acronym: GENOWIL

Abstract:

 Wilson disease (WD) is an autosomal recessive genetic disease affecting copper metabolism. Genetic testing is an integral part in establishing the diagnosis of WD. The mutations in the ATP7B gene (> 200 possible disease causing mutations) have never been analyzed in Romania. The phenotypic presentation of WD is extremely variable, regardless of the composed homozigous / heterozigous status of an index patient. The main objective of the project is the identification of the mutations spectrum in Romanian patients with WD and the establishment of correlations between the genotype-phenotype, with implications in the level of family screening and prognosis of these patients.

Partners:

1. FUNDENI CLINICAL INSTITUTE BUCHAREST (CO)

Project director: Reader Dr. Gheorghe Liliana Simona

2. “Carol Davila” University of Medicine and Pharmacy Bucharest

3. “Victor Babes” National Research and Development Institute in the Field of Pathology and Biomedical Sciences

4. University of Bucharest

Manager: Reader ELENA IONICA, PhD

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