The group of Giuseppe Testa, at Human Technopole in Milan, in collaboration with other research teams around the world, have published results from a study using advanced stem cell models to characterize cellular and molecular changes underlying Gabriele-de Vries Syndrome (GADEVS), a rare neurodevelopmental disorder. Their study demonstrated how YY1 mutations cause developmental defects at cellular, structural, and molecular levels, opening a path to identify potential therapeutic targets that may be applicable in other neurodevelopmental disorders.

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Using single-cell genomics, scientists collaborating across multiple countries published new insights on potential treatments for glioblastoma (GBM), an incurable brain tumor that exhibits high recurrence after treatment. In this comprehensive analysis of GBM at single-cell resolution, recurrence trajectories showed high diversity. Their results indicate that specific transcriptional trajectories could be assigned to subsets of tumors for more defined stratification of recurrence and potentially opens the path to future specific treatment strategies.

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Using samples from TRACERx and MSK-IMPACT cohorts, scientists from cancer research institutes in France, Netherlands, UK, and New York, published this study which characterizes tumor-infiltrating clonal hematopoiesis (TI-CH) where clonal hematopoiesis of indeterminate potential (CHIP) mutations with high variant-allele frequencies can be detected in tumors. Findings from the study show that TI-CH remodeled the tumor immune microenvironment and accelerated tumor organoid growth, indicating increased risk of recurrence or death for non–small-cell lung cancer (NSCLC) patients.

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