Molecular Basis and Genetics of Neurodevelopmental Disorders
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Neurogenomics".
Deadline for manuscript submissions: 20 May 2026 | Viewed by 774
Special Issue Editors
Interests: intellectual disability; neurodevelopmental disorders; NGS; exome sequencing; copy number variations
Special Issues, Collections and Topics in MDPI journals
Interests: linkage analysis; candidate gene; genetic diseases; neurodevelopmental disorders; epilepsy; genomic syndromes; next-generation sequencing; genotype–phenotype correlations; iPSCs
Special Issues, Collections and Topics in MDPI journals
Interests: neurodevelopmental disorders; autism; epilepsy; copy number variations; genomic syndromes; next-generation sequencing; genotype–phenotype correlations
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Neurodevelopmental disorders (NDDs), such as intellectual disability, autism spectrum disorders, communication and learning disorders, attention deficit/hyperactivity disorders and motor disorders, are impairments that affect the development and growth of the brain and the central nervous system during embryonic and early postnatal life. They present a major challenge in medicine, as they are the most frequent causes of developmental issues in children (nearly 3 of 100 babies are affected) and the main reason for referral to clinical genetic centers. The identification of underlying genetic defects and risk factors has improved significantly thanks to diagnostic technologies including next-generation sequencing (NGS) and chromosomal microarray analysis (CMA), and more than 700 genes are known to cause NDDs; however, the mechanisms underlying the pathophysiology of most of these disorders remain elusive and effective treatments have not yet been established. Possible reasons include the inaccessibility of developing human brains, the lack of suitable disease models and a limited understanding of the etiological and neurobiological mechanisms of the brain.
The Special Issue will publish high-quality papers providing a comprehensive overview of key concepts, emerging discoveries, and future perspectives in the field of NDDs. Papers that integrate multi-omics data; highlight innovative technologies such as CRISPR-based editing, single-cell genomics, or long-read sequencing; and discuss computational approaches in genetic analysis are highly encouraged.
Particular attention is devoted to the translational impact of these discoveries, with contributions highlighting how molecular genetics is driving the development of innovative therapies, ranging from personalized medicine to genetic engineering for biotechnological purposes.
Dr. Pietro Palumbo
Dr. Massimo Carella
Dr. Orazio Palumbo
Guest Editors
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
Keywords
- neurodevelopmental disorders
- next-generation sequencing
- chromosomal microarray analysis
- disease models
- translational impact
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