2008.

Multiannual Programme for Research on Rare Diseases (MRAR) (MRAR) 2006 projectﾠRett therapy -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.ﾠSignificant progress was the discovery of mutations in the MECP2 gene in over 90% of RTT patients.ﾠIn recent years, we have developed a French consortium and determined the spectrum of mutations MECP2.ﾠWe have shown that the four most common MECP2 … Read more

Identification of Genetic Risk Factors for Complex Disorders by Studying Patients with Associated Balanced Chromosomal Rearragements

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Reference: NGFN2 Abstract: Associations between BCRs and disorders reported in the questionnaire are considered as probably real if the disorder co-segregates with the BCR in a family; if one breakpoint is located at a previously identified locus for the respective disorder; or if several unrelated patients with the same disorder have a breakpoint in the … 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

Functional variants of the 5q31 chromosome region: connections between polygenic diseases and the carnitine system.

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Reference: 73430 Abstract: The study design is the natural extension of our previous research works that had already been supported (www.humangenom.hu, www.eurosca.org). It is clear nowadays, that the functions of the carnitine are not restricted to the role of the oxidation of the long-chain fatty acids. The main direction of the planned research is the … Read more

Epigenetics of chronic heart failure

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Reference: Abstract: The focus of this project are epigenetic mechanisms that underlie the remodeling in the heart in the emergence of hypertrophy and failure and recovery after mechanical unloading.ﾠIn the foreground is the methyl-DNA-binding protein 2 (MeCP2), which specifically recognizes methylated DNA sequences, and thus can modulate gene expression.ﾠIn the continuation phase of this project, … Read more

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