France – Page 3 – Rett syndrome research – projects, results and publications

E patient

June 16, 2021June 29, 2015 by Editorial Team

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

June 16, 2021June 29, 2015 by Editorial Team

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

Identification of causative gene(s) for familial and sporadic forms of Rett syndrome

June 16, 2021June 29, 2015 by Editorial Team

Reference: ORPHA26075 Abstract: PROJECT DETAILS beginning: n.a end: n.a Country of research: France Counry of funding source: France Funding organization: Institut de Recherde biomedacale Financing: NATIONAL FUNDINGS – 0 € hyperlink

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

June 16, 2021June 29, 2015 by Editorial Team

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

June 16, 2021June 29, 2015 by Editorial Team

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