Genetic and Epigenetic Mechanisms in Growth and Neurodevelopmental Disorders
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".
Deadline for manuscript submissions: 20 March 2025 | Viewed by 1835
Special Issue Editor
Interests: genetics of mendelian disorders; molecular diagnostics of neurodevelopmental and growth disorders; pituitary hormone deficiency; kidney genetics diseases; hereditary cancer syndromes
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Large-scale genomic studies have significantly enhanced our understanding of the genetic landscape associated with various growth and skeletal disorders, as well as neurodevelopmental conditions such as autism spectrum disorders (ASDs), intellectual disabilities, and epilepsy, particularly in pediatric populations. The elucidation of the role of pathogenic variants that disrupt normal brain development and the intricate network of genes regulating growth has opened new avenues for clinical application, particularly for molecular diagnosis and treatment in children. The identification of specific genetic variants allows for more targeted and personalized interventions. Additionally, epigenetic modifications are key regulators of a multitude of biological functions involved in both growth and neurodevelopment. The unique episignatures exhibited by certain genetic syndromes could help in diagnosing conditions that might be otherwise challenging.
In this Special Issue, we will publish research and perspectives covering the genetic and epigenetic mechanisms involved in growth and neurodevelopmental diseases.
We kindly encourage colleagues that are involved in these fields to contribute high-quality review articles, research articles, and communications to this Special Issue. Potential topics include the following, among others:
- Insights into the genetic alterations and molecular pathways involved in skeletal and growth disorders.
- Identification of the genetic factors contributing to the onset and progression of neurodevelopmental disorders.
- Studies focusing on the functional implications of genetic variants associated with growth and neurodevelopmental disorders, including their pathogenic roles and therapeutic potential.
- Investigations into the epigenetic landscapes of genetic syndromes, highlighting the role of DNA methylation, histone modification, and other epigenetic factors in disease manifestation and progression.
Dr. Mara Giordano
Guest Editor
Manuscript Submission Information
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Keywords
- growth defects
- intellectual disability
- epilepsy
- autism spectrum disorders
- epigenetic variations
- copy number variations
- next generation sequencing
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