GEUVADIS Genetic European Variation in Health and Disease, A European Medical Sequencing Consortium

Reference: 261123 Abstract: We are committed to gaining insights into the human genome and its role in health and medicine by sharing data, experience and expertise in high-throughput sequencing. The purpose of this website is to keep you up to date with the project, and to help you find accessible information about genomics and personalised … Read more

Chromatin diseases: from basic mechanisms to therapy

Reference: 238242 Abstract: The scope of this ITN is to promote research and training in the field of chromatin diseases. Chromatin diseases (CD) are genetic pathologies resulting from mutations in structural components of chromatin or in enzymes that biochemically modify chromatin, altering chromatin status and thereby causing drastic effects on gene expression. CD frequency ranges … Read more

Characterization of mecp2 function in rett syndrome

Reference: QLK2-CT-2002-51761 Abstract: Ret Syndrome, an important cause of mental retardation in women, is associated with mutations in the gene encoding methyl- Cog binding protein. The aim of this project is to identify target genes whose expression is altered as a result of Mapco mutations. PROJECT DETAILSĀ  beginning: 2003. end: 2005. Country of research: Spain … Read more

EURORETT: European network on Rett syndrome

Reference: ORPHA258004 Abstract: Rett syndrome (RS) is a neurological disorder primarily affecting girls, with an incidence of about 1/10,000 female births. It is a genetic disease, the second cause of severe mental retardation in women and a leading cause of postnatal neurodevelopmental regression. Rett syndrome is a model for autism-spectrum disorders and it is classified … Read more

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