CORDIS Project
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This project investigates Rett Syndrome, a neurodevelopmental disorder caused by mutations in the MECP2 gene. It explores the potential of insulin-like growth factor 1 (IGF1) to stimulate brain circuit maturation and reverse symptoms in affected individuals, aiming to develop a viable therapy for this condition.
Rett Syndrome (RTT) is an X-linked neurodevelopmental 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 models, CNS-specific deletion of Mecp2 is sufficient to cause Rett-like symptoms.
In patients as well as in the mouse models, the involved CNS circuits do not sho…
THE PROVOST, FELLOWS, FOUNDATION SCHOLARS & THE OTHER MEMBERS OF BOARD, OF THE COLLEGE OF THE HOLY & UNDIVIDED TRINITY OF QUEEN ELIZABETH NEAR DUBLIN
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