New Frontiers in Neurodevelopmental Disorders

Dear Colleagues,

The prevalence of neurodevelopmental disorders (NDDs) has seen a dramatic increase in the last decade due to remarkable diagnostic evolution fueled by omics approaches such as WES or WGS combined with CNV microarrays, which made it possible to identify numerous novel intellectual disability (ID) genes. The mechanisms underlying an increasing number of NDDs started to be unraveled by patient-specific iPSC–neuronal models appointing morphological, molecular, and functional “disease” biomarkers. iPSc modeling also provided the platform for high-throughput screening of myriad chemicals and candidate drugs, speeding up the discovery of eventual cures for these debilitating diseases. The emerging group of Mendelian disorders of the epigenetic machinery (MDEMs), sharing ID and growth defects, has attracted attention as the epigenetic modifications driven by the defective genes, besides informing our understanding of disease, indicated that many of these disorders have unique genomic DNA methylation patterns (“episignatures”), enhancing the molecular diagnosis of ambiguous cases and optimizing clinical management. Most important, in several MDEMs, neurological dysfunction is amenable to treatment in postnatal life by using “epidrugs”, small molecules proven successful in treating cancer and neurological disorders.

This Special Issue aims to provide an update on NDDs, from diagnostic genomic and postgenomic approaches to deep patient phenotyping, iPSC-modeling for the dissection of basic pathomechanisms, and drug screening for therapeutic prospects.

We look forward to your submissions!

Prof. Dr. Lidia Larizza
Prof. Dr. Aglaia Vignoli
Prof. Dr. Maria Paola Canevini
Guest Editors

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