The field of neurogenetic and neurodevelopmental disorders has seen significant advancements in recent years, yet the complexity of these conditions continues to pose substantial challenges. These disorders are characterized by intricate interactions between genetic, epigenetic, and environmental factors, which collectively influence disease onset, progression, and variability. Current research has made strides in identifying key genetic mutations and pathways involved in these disorders, but there remain significant gaps in understanding how these elements interact and contribute to the overall disease phenotype. Recent studies have highlighted the importance of epigenetic modifications and environmental influences in modulating disease expression and severity. However, a comprehensive understanding of these multifaceted interactions is still lacking, necessitating further investigation to unravel the complexities of these disorders and develop more effective diagnostic and therapeutic strategies.This research topic aims to foster our understanding of the genetic, epigenetic, and environmental intricacies influencing neurodevelopmental and neurodegenerative disorders. By highlighting the inter-regulation of these factors, we anticipate that the findings will not only advance scientific knowledge but will also contribute to innovative diagnostic, prognostic, and novel therapeutic approaches. Specific questions to be addressed include the role of genetic modifiers in disease penetrance, the impact of epigenetic changes on phenotypic variability, and the influence of environmental factors on disease progression. Hypotheses to be tested include the potential for epigenetic therapies to alter disease outcomes and the effectiveness of integrating multi-omics approaches to decipher the molecular landscape of these disorders.To gather further insights into the boundaries of this research, we welcome articles addressing, but not limited to, the following themes:Molecular Genetics of Neurogenetic Disorders:• Exploration of intricate molecular pathways implicated in genetic diseases.• Integration of genomics, transcriptomics, and proteomics to decipher the molecular landscape.• Multiple-gene interactions and their contribution to disease complexity.Epigenetic Modulation in Phenotypic Variability:• Influence of DNA methylation, histone modifications, and non-coding RNAs in genetic disorders and phenotypic diversity. • Epigenetic therapies and their potential impact on disease outcomes.Genetic Modifiers and Penetrance:• Understanding the role of genetic modifiers in modulating the penetrance of genetic mutations.• Genetic interactions that influence disease manifestation and severity.• Implications of genetic interactions for precision medicine Clinical Relevance and Translational Insights:• How molecular findings inform diagnosis, prognosis, and treatment strategies.• Translational research bridging molecular discoveries to clinical applications.• Bench-to-bedside approaches for improving patient outcomes.Role of Environmental Factors: • Exploration of environmental factors influencing the risk and severity of genetic disorders.• Positive and negative impacts of the environment on disease management.• Integrating genetic, epigenetic, and environmental perspectives for holistic understanding of disease.• The One Health perspective and its benefits in promoting health.
The field of neurogenetic and neurodevelopmental disorders has seen significant advancements in recent years, yet the complexity of these conditions continues to pose substantial challenges. These disorders are characterized by intricate interactions between genetic, epigenetic, and environmental factors, which collectively influence disease onset, progression, and variability. Current research has made strides in identifying key genetic mutations and pathways involved in these disorders, but there remain significant gaps in understanding how these elements interact and contribute to the overall disease phenotype. Recent studies have highlighted the importance of epigenetic modifications and environmental influences in modulating disease expression and severity. However, a comprehensive understanding of these multifaceted interactions is still lacking, necessitating further investigation to unravel the complexities of these disorders and develop more effective diagnostic and therapeutic strategies.This research topic aims to foster our understanding of the genetic, epigenetic, and environmental intricacies influencing neurodevelopmental and neurodegenerative disorders. By highlighting the inter-regulation of these factors, we anticipate that the findings will not only advance scientific knowledge but will also contribute to innovative diagnostic, prognostic, and novel therapeutic approaches. Specific questions to be addressed include the role of genetic modifiers in disease penetrance, the impact of epigenetic changes on phenotypic variability, and the influence of environmental factors on disease progression. Hypotheses to be tested include the potential for epigenetic therapies to alter disease outcomes and the effectiveness of integrating multi-omics approaches to decipher the molecular landscape of these disorders.To gather further insights into the boundaries of this research, we welcome articles addressing, but not limited to, the following themes:Molecular Genetics of Neurogenetic Disorders:• Exploration of intricate molecular pathways implicated in genetic diseases.• Integration of genomics, transcriptomics, and proteomics to decipher the molecular landscape.• Multiple-gene interactions and their contribution to disease complexity.Epigenetic Modulation in Phenotypic Variability:• Influence of DNA methylation, histone modifications, and non-coding RNAs in genetic disorders and phenotypic diversity. • Epigenetic therapies and their potential impact on disease outcomes.Genetic Modifiers and Penetrance:• Understanding the role of genetic modifiers in modulating the penetrance of genetic mutations.• Genetic interactions that influence disease manifestation and severity.• Implications of genetic interactions for precision medicine Clinical Relevance and Translational Insights:• How molecular findings inform diagnosis, prognosis, and treatment strategies.• Translational research bridging molecular discoveries to clinical applications.• Bench-to-bedside approaches for improving patient outcomes.Role of Environmental Factors: • Exploration of environmental factors influencing the risk and severity of genetic disorders.• Positive and negative impacts of the environment on disease management.• Integrating genetic, epigenetic, and environmental perspectives for holistic understanding of disease.• The One Health perspective and its benefits in promoting health.