E patient

Reference: Thomas Bertrand1 Abstract: Health is today the number 1 use of Internet. E patients are health consumers who use the internet to gather, share, produce information about a medical condition of particular interest to them. Health social networks are becoming an important entity of influence in the medicine of the future, as they are … Read more

Family outcomes

Reference: Danijela Vlajic Abstract: The European Project for Rare Diseases National Plans Development (EUROPLAN) has addressed one unanswered question to date: モwhat is the scope of patient-driven research?ヤ Identification of needs and priorities for translational and social research, modes of fostering them and promotion of interdisciplinary cooperative approaches has been largely recommended. Beside the success … Read more

CHERISH (Improving diagnoses of mental retardation in children in central eastern Europe and central Asia through genetic characterisation and bioinformatics / statistics)

Reference: 223692 Abstract: Mental retardation (MR) is a highly heterogeneous disorder and is of genetic origin in about 50% of the cases. Despite recent progress in research the causes and the pathophysiology of MR remains obscure. It is essential to investigate this in order to develop future diagnostic and therapeutic strategies. The overall goal of … 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

WDVPT (Role of the Wnt/b-catenin pathway in the dorso-ventral organisation of the telencephalon.)

Reference: 40712 Abstract: To obtain the diversity of cells present in the human brain, different signalling molecules are repeatedly used to regionalise the central nervous system (CNS). In this work we used the zebrafish as an organism model to find which signal pathways are involved in the anterior brain formation and when do they act. … Read more

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