Assessment of the Implementation of the 2011 Council Recommendation on Policies to Reduce Early School Leaving

This study analyses the development of policies and practice on reducing ESL after 2011, seeking to assess the contribution of the 2011 Council Recommendation on Policies to Reduce Early School Leaving (henceforth the 2011 Recommendation) and associated EU policy instruments to the development of policy, practice and research on ESL across Europe. The study looks at the leverage of EU policy on tackling ESL over the actions taken by key stakeholders at EU level and explores the extent of any influence between MS on their respective approaches to reducing ESL. The study also seeks to assess the added value of EU policy to tackle ESL in the Member States, and investigates the relevance, impact, effectiveness, efficiency and sustainability of the EU policy and tools on reducing ESL

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.

GEMIN5, an RNA-binding protein is essential for assembly of the survival motor neuron (SMN) protein complex and facilitates the formation of small nuclear ribonucleoproteins (snRNPs), the building blocks of spliceosomes. Here, we have identified 30 affected individuals from 22 unrelated families presenting with developmental delay, hypotonia, and cerebellar ataxia harboring biallelic variants in the GEMIN5 gene. Mutations in GEMIN5 perturb the subcellular distribution, stability, and expression of GEMIN5 protein and its interacting partners in patient iPSC-derived neurons, suggesting a potential loss-of-function mechanism. GEMIN5 mutations result in disruption of snRNP complex assembly formation in patient iPSC neurons. Furthermore, knock down of rigor mortis, the fly homolog of human GEMIN5, leads to developmental defects, motor dysfunction, and a reduced lifespan. Interestingly, we observed that GEMIN5 variants disrupt a distinct set of transcripts and pathways as compared to SMA patient neurons, suggesting different molecular pathomechanisms. These findings collectively provide evidence that pathogenic variants in GEMIN5 perturb physiological functions and result in a neurodevelopmental delay and ataxia syndrome