“Chromatin diseases” (CD) are genetic diseases resulting from mutations in components of chromatin and/or in enzymes that modify DNA methylation and histone modifications. This alters chromatin status at specific genes and/or genomic regions, thereby causing drastic effects on gene expression. CD are ideal model system since their nature of monogenic disease, making them more “molecularly controlled” with respect to the multifactorial nature of cancer. Furthermore, the factors involved in remodeling the chromatin structure are potential drug targets in the treatment of human diseases, making the investigation of epigenetic factors and therapies a priority for research. The DisChrom ITN aims to study, at different levels, the molecular mechanisms underlying four chromatin diseases, the potential for therapeutic intervention and the development of new technologies to dissect the epigenetic abnormalites associated with these conditions. Our interest will be focused on four diseases: i) Rett syndrome ii) alpha thalassemia with mental retardation (ATRX) sindrome iii) facioscapulohumeral muscular dystrophy (FSHD) iv) Immunodeficiency, Centromeric region instability, Facial anomalies (ICF) syndrome.

DNA methylation in the control of gene silencing during development and human disorders (DisChrom)

KILSTRUP-NIELSEN, CHARLOTTE
2009-01-01

Abstract

“Chromatin diseases” (CD) are genetic diseases resulting from mutations in components of chromatin and/or in enzymes that modify DNA methylation and histone modifications. This alters chromatin status at specific genes and/or genomic regions, thereby causing drastic effects on gene expression. CD are ideal model system since their nature of monogenic disease, making them more “molecularly controlled” with respect to the multifactorial nature of cancer. Furthermore, the factors involved in remodeling the chromatin structure are potential drug targets in the treatment of human diseases, making the investigation of epigenetic factors and therapies a priority for research. The DisChrom ITN aims to study, at different levels, the molecular mechanisms underlying four chromatin diseases, the potential for therapeutic intervention and the development of new technologies to dissect the epigenetic abnormalites associated with these conditions. Our interest will be focused on four diseases: i) Rett syndrome ii) alpha thalassemia with mental retardation (ATRX) sindrome iii) facioscapulohumeral muscular dystrophy (FSHD) iv) Immunodeficiency, Centromeric region instability, Facial anomalies (ICF) syndrome.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11383/1715352
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