A team of researchers from iBB, including Margarida Diogo and Tiago Fernandes, has contributed to advancing our understanding of Rett syndrome (RTT), a rare neurodevelopmental disorder primarily caused by mutations in the MECP2 gene. Although RTT results from alterations in a single gene, the molecular events that drive its development remain poorly understood.
Using patient-derived brain organoids and an integrated multi-omics approach, the researchers mapped how changes in gene and protein expression unfold throughout early brain development. Their work revealed disruptions in key biological processes involved in neuronal development and communication, particularly in GABAergic signalling, while also identifying long non-coding RNAs and imprinted genes as potential contributors to RTT pathology.
By providing a detailed view of the molecular mechanisms underlying Rett syndrome, this study offers new clues into how the disorder develops and highlights promising avenues for future research into targeted therapies that could improve the lives of individuals affected by RTT.
Link to publication: https://link.springer.com/article/10.1186/s11689-026-09699-9