Aug 2026· Human Molecular Genetics· Vol 35 17· 0 citations
Medicine
TL;DR
This review critically evaluates the shift from traditional genetic screening to advanced epigenetic profiling as a robust framework for predicting ID in FXS and outlines a strategic roadmap for standardizing epigenetic assays, highlighting their potential to revolutionize the predictive landscape of neurodevelopmental disorders.
It is demonstrated that FMRP deficiency drives the aberrant translational upregulation of core m6A writers, a causal relationship definitively validated using CGG-corrected isogenic control lines and suggest a promising avenue for m6A-targeted therapies.
Lu Lu, Avijite Kumer Sarkar, Lan Dao et al.· Molecular Psychiatry· 0 citations
It is proposed that MDEMs are characterized by distributed, often subtle chromatin and gene expression perturbations, which impact diverse cellular pathways and processes and are frequently shared between distinct disorders, occupying an intermediate space between classical monogenic disorders and complex traits.
Leandros Boukas, Hans T Bjornsson· Epigenomics· 0 citations
An early-intervention approach, or combination of approaches, holds significant promise for transforming the lives of individuals affected by AS with outcomes dependent on their age or genotype.
C. Tychon, Theodora Markati, Serpil Alkan et al.· CNS Drugs· 0 citations
It is shown that FMR1 gene therapy using delivery routes and vehicles approved for clinical use improves core phenotypes in a mouse model for FXS, and suggests that a dual route may be needed to achieve full brain coverage.
Richard K Lacher, Kari Henson, Lindsay N Wathen et al.· Gene Therapy· 0 citations
This review evaluates the potential of CRISPR-based editing as a therapeutic strategy for monogenic NDDs and evaluates the limitations that must be addressed before its widespread application in human patients.
Julia Mulles· American Journal of Student...· 0 citations
Findings link a population-enriched missense variant to disrupted chromatin regulation, genome stability, and neurodevelopmental timing, bridging human genetic risk with cellular pathophysiology.
R. Lease, Rediet T. Oshone, Yumna Ahmed et al.· Research Square· 0 citations
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