My project aims to understand the role of microexons Alternative Splicing in the retina, to elucidate its molecular function at the molecular and organismal level and how this process is disrupted in disease. The combination between in vitro, in vivo and bioinformatic approaches offers the opportunity to study from multiple angles the physiologic relevance of microexons, particularly those impacting cilium-related proteins. This work will yield insights into an unexplored mechanism of gene regulation and potentially elucidate new nodes of dysregulated retinal and neurological diseases.
2022. miR-181a/b downregulation: a mutation-independent therapeutic approach for inherited retinal diseases.  EMBO Mol Med 14(11):e15941,
2022. Specialization of the photoreceptor transcriptome by Srrm3-dependent microexons is required for outer segment maintenance and vision.  Proc Natl Acad Sci U S A 119(29):e2117090119,
2021. Silencing of SRRM4 suppresses microexon inclusion and promotes tumor growth across cancers.  PLoS Biol 19(2):e3001138,
2020. From research to rapid response: mass COVID-19 testing by volunteers at the Centre for Genomic Regulation.  F1000Res 9:1336,
2019. miR-181a/b downregulation exerts a protective action on mitochondrial disease models.  EMBO Mol Med 11.,