Editorial Team

Priority setting in research on X linked mental retardation syndromes, with special focus on Rett syndrome

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Reference: A2-SZGYA-FOK-13n.a.002 Abstract: The project consists of three main parts: 1) follwoing the identification of supported research projects on Rett syndrome, their priorities are categorized, 2) research priorities of patients and researchers are analysed and 3) identification of research gasps. PROJECT DETAILS  beginning: 2013. end: 2014. Country of research: Hungary Counry of funding source: Hungary … Read more

Promising markers for the first early detection of Rett syndrome

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Reference: Abstract: Rett syndrome (RTT) is a genetic disease that affects the little girl from her 6th month, causing disorders of the nervous system.ﾠIf for the moment there is no cure for the disease, early detection is important and can limit neurological damage related symptoms faster.ﾠResearchers at the Institute of Biomolecules Max Mousseron (1) (IBMM … Read more

Molecular biologickáanalýza MECP2 gene in patients with Rettovýmsyndromem

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Reference: 301/01/P068 Abstract: ProjektGA CR 301/01/P068 focused on molecular-biological analysis MeCP2genu. Its defect leads to clinical manifestations of Rett syndrome (RS) (OMIM312750), which is the second most common cause of mental retardation dívek.Dědičnost RS gonosomal dominant with incidence approximately 1 to 000 10000-15; vast majority of mutations created de novo. MECP2 gene, described in 1999, … Read more

Modulators of bio-aminergic pathways for the treatment of Rett syndrome

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Reference: ANRn.a.8-BIOTn.a.020 Abstract: Rett syndrome (RS) is a severe neurological disorder caused by a mutation in the MECP2 gene transcriptional repressor. SR girls develop normally until 6-18 months later, they suffer neurological symptoms and severe respiratory ?irregularities. So far no treatment is available. Previously, using a mouse model of SR, we have shown that disruption … Read more

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