About this Research Topic
This comprehensive Research Topic integrates genomes, transcriptomes, proteomes, and molecular pathways, unraveling the complexities of genetic diseases with a focus on neurodevelopmental and degenerative disorders. The multifaceted basis of these disorders involves intricate interactions between genes, pathways and environmental influences. The goal is to explore recent advancements and methodologies in molecular genetics, understand the influence of epigenetic modifications on phenotypic variability, transcriptomics, and dissect the impact of genetic modifiers on mutation penetrance.
This Research Topic aims to foster our understanding of the genetic, epigenetic, and environmental intricacies influencing neurodevelopmental/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.
Topics of Interest:
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.
This Research Topic aims to foster our understanding of the genetic, epigenetic, and environmental intricacies influencing neurodevelopmental/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.
Topics of Interest:
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.
Keywords: neurodevelopment; neurogenetics; epigenetics; precision medicine, neurodegeneration, genomic variability
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