CORDIS Project
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This project focuses on Fragile X syndrome, the leading genetic cause of intellectual disability and autism. It aims to understand the developmental disruptions in the brain associated with the condition by creating brain organoids for research.
Fragile X syndrome (FXS) is the most common inherited form of intellectual disability and the main monogenetic cause of autism spectrum disorder. FXS is caused by the epigenetic inactivation of the FMR1 gene during the first trimester of gestation. FMR1 encodes for the fragile X mental retardation protein (FMRP), which regulates the transport and translation of mRNAs involved in brain development.
Already at 6 months of age, FXS infants display structural alterations in several brain areas, incl…
UNIVERSITA DEGLI STUDI DI PADOVA
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