Research projects
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Molecular and cellular bases of mental retardation associated with "Fragile X" syndrome
15th National Programme for the allocation of Research Grants for Life and Matter Sciences
Rare diseases
Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid
Abstract
This project aims to elucidate the molecular mechanisms responsible for an inherited form of mental retardation known as Fragile X syndrome, for which there is currently no cure. It is proposed that the regulation of the cytoskeleton of the neuron may be altered in these individuals, thus interfering with synaptic plasticity processes and causing disturbances in the cognitive function. For this project a multidisciplinary approach is being used that includes molecular biology, electrophysiology, fluorescence microscopy and analysis of behaviour in mouse models. It is believed that this research project will contribute to the elucidation of the physiological processes that control cognitive function, and in particular to the understanding of the pathological changes that result in the mental retardation associated with Fragile X syndrome.
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4
Jun
2019
International Symposium Genomic Medicine Madrid, Tuesday and Wednesday, June 4 and 5, 2019 9:30 hours
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27
Nov
2019
International Symposium Undiagnosed and rare diseases in children and adolescents: Translation to clinic and society Barcelona, Wednesday and Thursday, November 27 and 28, 2019 9:30 hours
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30
Jan
2020
International Symposium Understanding and reprogramming developmental visual disorders: from anophthalmia to cortical impairments Madrid, Thursday and Friday, 30 and 31 January 2020, 9:30 hours
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- Molecular basis of immune deficiency in Wolf-Hirschhorn Syndrome (4p-) 2016 Senior Researcher : César Cobaleda Hernández Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid
- Novel immunotherapeutic strategies against T-ALL, a rare pediatric disease 2018 Senior Researcher : María Luisa Toribio García Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid
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