#SeminarIRSJD · Estudio de pacientes dentro del espectro Rett mediante una aproximación multiómica: descifrando la huella molecular de la red funcional
- Dra. Judith Armstrong, líder del grup Genòmica pel diagnòstic de malalties rares · IRSJD
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Resum
Rett syndrome (RTT) is a severe neurodevelopmental disorder whose classical form is mainly caused by mutations in the MECP2 gene. There are also atypical forms, generally caused by mutations in CDKL5 or FOXG1, and RTT-like forms, with considerable clinical overlap with typical RTT but caused by mutations in other genes. Since the pathomechanism by which the dysfunction of these genes causes disease is not yet fully understood, there is no treatment available. Therefore, the aim of this study is to characterize the molecular alterations in RTT-spectrum patients to identify common and specific molecular signatures and discover pathways involved in the pathogenesis of these disorder