New Insights into the Molecular Genetics of Neurodevelopmental Disorders: 2nd Edition
A special issue of Biomolecules (ISSN 2218-273X). This special issue belongs to the section "Molecular Genetics".
Deadline for manuscript submissions: 31 December 2026 | Viewed by 7
Special Issue Editors
Interests: neurodevelopment disorders (NDDs) and epilepsy; next-generation sequencing (NGS); medical genetics; molecular genetics and functional genomics
Special Issues, Collections and Topics in MDPI journals
Interests: neurodevelopment disorders (NDDs) and epilepsy; gene discovery; clinical genetics; dysmorphology
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Following the successful first edition of this Special Issue, we are pleased to launch the second edition of New Insights into the Molecular Genetics of Neurodevelopmental Disorders.
Neurodevelopmental disorders (NDDs) are rare, mostly genetic diseases resulting from abnormal brain development, and are characterized by impairments in cognition, communication, adaptive functioning, and psychomotor skills. These disorders—including rare genetic syndromes, intellectual disability (ID), autism spectrum disorder (ASD), and epilepsy—are genetically and phenotypically heterogeneous, which poses significant challenges for phenotype-driven diagnosis.
Despite advances in next-generation sequencing (NGS), many patients remain without a molecular diagnosis. This highlights the growing need for systematic reanalysis of NGS data and multi-omics approaches to uncover additional disease-causing variants. Crucially, interpreting the pathogenicity of variants of unknown significance (VUS) remains essential, including functional studies at the protein, cellular, or model organism levels. With a deeper understanding of molecular pathomechanisms and phenotypic spectra, patient management can be improved, and targeted therapeutics may become increasingly available.
This second edition aims to highlight advances since the first issue and to provide an updated perspective on molecular genetic discoveries, functional validation approaches, and translational implications in NDD research. We welcome original research articles, reviews, and communications that offer new insights into disease mechanisms, model-specific disorders, deepen genotype–phenotype understanding, and leverage multi-omics approaches to reveal novel molecular findings.
We look forward to receiving your contributions and to continuing the discussion on this rapidly evolving field.
Dr. Luciana Musante
Dr. Flavio Faletra
Guest Editors
Manuscript Submission Information
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Keywords
- neurodevelopmental disorders
- NGS analysis and reanalysis
- pathomechanisms
- phenotypic spectra
- phenotype–genotype correlation
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