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Feature Papers in "Neurogenetics and Neurogenomics": 2026
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Feature Papers in "Neurogenetics and Neurogenomics": 2026

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Neurogenomics".

Deadline for manuscript submissions: 25 December 2026 | Viewed by 1536

Special Issue Editors

Dr. Claudia Ricci

E-Mail Website
Guest Editor
Department of Medical, Surgical and Neurological Sciences, University of Siena, 53100 Siena, Italy
Interests: neurogenetics; motor neuron diseases; amyotrophic lateral sclerosis; genotype-phenotype correlations; gene variant consequences; microRNAs
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Micheal Palladino

E-Mail Website
Guest Editor
Department of Pharmacology & Chemical Biology, University of Pittsburgh, Pittsburgh, PA 15260, USA
Interests: metabolism; glycolysis; mitochondira; genetics; genetic models; biochemistry; therapy development; neuromuscular function and neurogenetics
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

We are pleased to announce the launch of a new Special Issue, “Feature Papers in "Neurogenetics and Neurogenomics": 2026”. This issue is dedicated to curating and showcasing a select collection of high-quality research articles, reviews, and perspectives that represent significant advances and novel insights at the intersection of genomics and the nervous system.

This edition aims to highlight cutting-edge discoveries in neurogenetics and neurogenomics, with a focus on the genetic and genomic underpinnings of nervous system development, function, and disease. We invite contributions that address mechanistic insights, innovative methodologies, and translational applications in the diagnosis, treatment, and prognosis of neurological disorders.

We strongly encourage leading researchers in the field, as well as Genes Editorial Board Members of the ‘Neurogenomics’ section, to contribute manuscripts from their research group that reflect the forefront of their expertise. Through this issue, we seek to reinforce the section’s role as a leading open-access platform for rigorous and influential research in neurogenomics.

Topics of interest include, but are not limited to, the following:

  • Multi-omics approaches in neurodevelopment and neurodegeneration;
  • Functional genomics and mechanistic studies in neurological diseases;
  • Genetics of monogenic and complex neurological disorders;
  • Advances in genetic testing and molecular diagnostics;
  • Genotype–phenotype correlations and biomarker discovery;
  • Precision medicine and personalized therapeutic strategies;
  • Pharmacogenetics and neuro-therapeutic development;
  • Novel therapies, including gene editing, RNA-based therapeutics, and engineered cell therapies.

Dr. Claudia Ricci
Prof. Dr. Micheal Palladino
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

  • genomics
  • neurological diseases
  • multi-omics studies
  • brain development and function
  • precision medicine
  • pathogenic mechanisms

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Further information on MDPI's Special Issue policies can be found here.

Published Papers (3 papers)

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Research

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14 pages, 717 KB  
Article
Expansion of the Phenotypic Spectrum of TNRC6B-Related Neurodevelopmental Disorder in a Three-Generation Family with 22q13.1 Deletion
by Jessica Archer, Sheridan O’Donnell, Melissa Buckman, Nicole Bain and Himanshu Goel
Genes 2026, 17(4), 464; https://doi.org/10.3390/genes17040464 - 15 Apr 2026
Viewed by 256
Abstract
Background: TNRC6B encodes a core effector of the RNA-induced silencing complex and is essential for miRNA-mediated gene silencing. Pathogenic variants in TNRC6B have recently been associated with a neurodevelopmental disorder characterised by developmental delay, intellectual disability, and behavioural difficulties. Methods: We report [...] Read more.
Background: TNRC6B encodes a core effector of the RNA-induced silencing complex and is essential for miRNA-mediated gene silencing. Pathogenic variants in TNRC6B have recently been associated with a neurodevelopmental disorder characterised by developmental delay, intellectual disability, and behavioural difficulties. Methods: We report a three-generation family with a 22q13.1 deletion encompassing only exons 2–23 of TNRC6B. Clinical data were collected from medical records and family interviews, and the findings were compared with those of published cohorts. Results: Affected individuals presented with developmental delay, speech and language impairment, autism spectrum disorder, ADHD, oppositional defiant disorder, craniosynostosis, joint laxity, clinodactyly, and cardiac valve anomalies. The father and paternal grandmother had learning difficulties and neurobehavioral features, while the proband exhibited a more severe phenotype. Conclusions: This report expands the phenotypic spectrum of TNRC6B-related neurodevelopmental disorder, highlighting craniosynostosis, joint and connective tissue features, and cardiac involvement. Our findings also underscore variable expressivity across generations and emphasise the relevance of both copy-number and sequence variants in TNRC6B in patients with neurodevelopmental disorders. Full article
(This article belongs to the Special Issue Feature Papers in "Neurogenetics and Neurogenomics": 2026)
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12 pages, 255 KB  
Article
Co-Occurring Genetic Mutations in Rett Syndrome and MECP2-Related Disorders—Clinical and Diagnostic Implications from a Case Series
by Jatinder Singh, Samiya Chishti and Paramala Santosh
Genes 2026, 17(3), 274; https://doi.org/10.3390/genes17030274 - 27 Feb 2026
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Abstract
Background/Objectives: Factors modulating phenotypic variability in Rett syndrome (RTT, OMIM 312750) include X chromosome inactivation (XCI), type of MECP2 variant, and/or disease modifiers. Emerging evidence also points to multi-locus genetic variants. Understanding the phenotypic variability associated with multi-locus genetic diagnoses in individuals [...] Read more.
Background/Objectives: Factors modulating phenotypic variability in Rett syndrome (RTT, OMIM 312750) include X chromosome inactivation (XCI), type of MECP2 variant, and/or disease modifiers. Emerging evidence also points to multi-locus genetic variants. Understanding the phenotypic variability associated with multi-locus genetic diagnoses in individuals with RTT and MECP2-related disorders would be important not only for accurate diagnosis, risk stratification and clinical management but also to explain symptoms that might not be typically associated with RTT. Methods: We present a case series of five individuals with a diagnosis of RTT or an MECP2-related disorder with co-occurring genetic findings, including pathogenic variants, variants of unknown significance and chromosome duplications. Clinical features such as neurodevelopmental history and comorbid medical conditions were assessed alongside the genetic findings. Results: A review of 200 cases with RTT identified five cases (all females aged 7–27 years) with a co-occurring genetic finding. Each case harboured at least one additional genetic variant that included a beta thalassaemia trait, Calmodulin 3 (CALM3) missense variant, maternally inherited 22q12.3 to q13.1 duplication, 7p14.3 and Dynein Cytoplasmic 1 Heavy Chain 1 (DYNC1H1) variants of uncertain significance and a pathogenic Set Domain-containing protein 5 (SETD5) variant. A rare triple genetic finding was illustrated in a single case, combining MECP2, CALM3, and DYNC1H1 variants. Conclusions: This case series supports the premise that RTT and MECP2-related disorders exist in a more complex neurogenetic spectrum than previously defined. It also emphasises the complexity within MECP2-related disorders. They are not static, and in the context of severe treatment resistant epilepsy, MECP2 disorders can evolve over time, necessitating diagnostic reclassification. Although the co-occurrence of multiple genetic disorders in RTT and MECP2-related disorders is rare, these cases underscore the importance of considering cumulative genetic burden when evaluating individuals with atypical features or evolving neurodevelopmental phenotypes. Full article
(This article belongs to the Special Issue Feature Papers in "Neurogenetics and Neurogenomics": 2026)

Review

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24 pages, 614 KB  
Review
Epigenetic and Neurogenomic Mechanisms Linking Physical Activity to Brain Plasticity and Cognitive Function
by Agata Leońska-Duniec
Genes 2026, 17(4), 474; https://doi.org/10.3390/genes17040474 - 17 Apr 2026
Viewed by 397
Abstract
Background/Objectives: Physical activity is one of the most powerful lifestyle factors influencing brain health, with growing evidence supporting its role in promoting neuroplasticity, cognitive function, and resilience to age-related neurological decline. Recent studies indicate that these effects are mediated by coordinated molecular [...] Read more.
Background/Objectives: Physical activity is one of the most powerful lifestyle factors influencing brain health, with growing evidence supporting its role in promoting neuroplasticity, cognitive function, and resilience to age-related neurological decline. Recent studies indicate that these effects are mediated by coordinated molecular responses involving epigenetics, activity-dependent gene expression, metabolic adaptation, and inter-organ communication pathways. This narrative review synthesizes current knowledge from experimental and clinical studies on the neurogenomic and epigenetic mechanisms underlying exercise-induced brain plasticity. Methods: Literature searches were conducted in PubMed, Scopus, Web of Science, and Google Scholar to identify studies examining neurogenomic and epigenetic mechanisms underlying neuroplasticity and cognitive adaptations in response to exercise, with an emphasis on mechanistic and translational evidence. Results: Available evidence, derived predominantly from animal studies and supported by more limited, often indirect human data, indicates that physical activity induces epigenetic modifications, including changes in DNA methylation, histone modifications, and microRNA expression, which contribute to lasting changes in exercise-responsive genes involved in brain plasticity. These adaptations include the upregulation of key neuroplasticity-related mediators that support neurogenesis, synaptic plasticity, angiogenesis, and metabolic adaptation, alongside the downregulation of pathways linked to neuroinflammation, oxidative stress, and apoptotic signalling. Conclusions: Integrating neurogenomics with systems biology approaches offers promising opportunities to better understand how physical activity influences brain plasticity throughout life. These insights may support the development of personalized exercise medicine to improve cognitive health and reduce the risk of neurodegenerative disorders. Full article
(This article belongs to the Special Issue Feature Papers in "Neurogenetics and Neurogenomics": 2026)
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