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Cellular Mechanisms and Therapies for Rett Syndrome

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Reference: 248284 Abstract: Rett Syndrome (RTT) is an X-linked neuro-developmental disorder and the leading known genetic cause of autism in girls. RTT is characterized by normal early development followed by cognitive, motor and language regression. Mutations in the X-linked MECP2 (methyl-CpG binding protein 2) gene account for at least 80% of RTT cases. In mouse … Read more

NEONATAL HI INJURY – Modulation of Triggering receptor expressed in myeloid cells 2 by gene transfer as novel neuroprotective estrategy for neonatal hypoxic ischemic brain injury using behavioural outcome as readout

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Reference: 253110 Abstract: Insults during the perinatal stage of brain development lead to major causes of neurological disability throughout life, ranging from motor deficits, cognitive limitations, learning difficulties and even severe disabilities, such as cerebral palsy. In term newborn infants, hypoxic-ischemic (HI) brain injury is the most common cause of encephalopathy and seizures. Despite major … Read more

Characterization of mecp2 function in rett syndrome

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Reference: QLK2-CT-2002-51761 Abstract: Ret Syndrome, an important cause of mental retardation in women, is associated with mutations in the gene encoding methyl- Cog binding protein. The aim of this project is to identify target genes whose expression is altered as a result of Mapco mutations. PROJECT DETAILS  beginning: 2003. end: 2005. Country of research: Spain … Read more

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

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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

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