France

E patient

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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

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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

Study of synaptic and neuronal physiological alterations in the MeCP2 gene deficient animals models of Rett syndrome

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Reference: ANRn.a.6-NEURn.a.003 Abstract: PROJECT SUMMARY – Scientific Background and Objectives Mutations in the gene encoding the protein MeCP2, a transcriptional regulator binding methylated DNA, are causing neurological disorders – including Rett syndrome (RTT) – characterized by an apparently brain development normal. The mice with truncated versions of MeCP2 show similar neurological deficits in patients RTT. … Read more

Therapeutic approaches of Rett syndrome: development of human cell models and high-throughput screening of chemical molecules in order to identify new subtsances likely to induce readthrough of a stop codon

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Reference: ANRn.a.6-MRARn.a.003 Abstract: Rett syndrome (RTT) is a neurodevelopmentale dominant X-linked disease affecting almost exclusively girls. Significant progress was the discovery of mutations in the MECP2 gene in over 90% of RTT patients. In recent years, we have developed a French consortium and determined the spectrum of mutations MECP2. We have shown that the four … Read more

Understand and address the deficits of neuronal transport in MeCP2-pathies

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Reference: ANR-12n.a.003-BSV1 Abstract: The MeCP2-pathies represent a field of particularly dynamic and competitive research in the field of intellectual disabilities related to the X chromosome Rett syndrome (RTT) is the prototype of these diseases and account for 10% of cases of mental retardation of genetic origin in women. The causative gene is Mecp2 encoding a … Read more

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