About this Research Topic
Neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease, Huntington's disease, and amyotrophic lateral sclerosis are characterized by progressive degeneration and eventual death of neurons, resulting in problems with motor and/or cognitive functions and further severely impairing patients' ability to perform activities independently. Neurodegenerative diseases are debilitating and incurable diseases that affect at least millions of people worldwide and account for a large portion of the global disease burden. As the population ages, the negative impact on patients and society of neurodegenerative diseases, which are common in the elderly and become more likely with age, will increase. The complex combination of inherited genetic pathogenicity/susceptibility variants, epigenetic changes, and environmental factors contribute to the risk of neurodegenerative diseases. The explosive development of high-throughput technologies in biology and medicine, such as next-generation sequencing, has provided crucial insights into how genetics relates to neurodegenerative diseases and its function in pathophysiological mechanisms. However, there are still many genetic mechanisms in neurodegenerative diseases that need to be studied in depth.
First, due to the heterogeneity of clinical phenotypes and underlying physiology from person to person, it is critical and challenging to discover new diagnostic biomarkers and improve diagnostic accuracy to enable timely and more reliable diagnosis in the early stages of the disease. Second, in addition to the mechanisms by which genetic variants are implicated in the pathogenesis of neurodegenerative diseases, the potential role of copy number variants (CNVs), which alter copy number between individuals through duplication or deletion of DNA segments, and epigenetic modifications, which affect gene expression through modification of DNA, RNA, chromatin, and histone proteins, must be further deciphered. Finally, future research in neurodegenerative diseases should also address the development of targeted gene therapies and epigenetic modification strategies. Better care for the elderly to enable them to live with more ease and dignity is also part of the effort. The application of high-throughput technologies in combination with gene-chip technology and a better understanding of genetics in neurodegenerative diseases may have implications for genetic diagnostic approaches, evidence-based and tailored therapeutic strategies, better care for patients, especially in advanced age, and prevention of relapse in families.
We welcome Original Research, Methods, Review and Brief Report that include, but are not limited to, but not limited to, the genetic and epigenetic basis of neurodegenerative diseases
- Clinical diagnosis and biomarkers in neurodegenerative diseases;
- Genes associated with neurodegenerative diseases;
- Interactions of gene variants on neurodegenerative disease risk and possible biological mechanisms;
- CNVs involved in neurological diseases with different genomic analysis platforms;
- Mechanisms involved in neurodegenerative diseases;
- Cellular and animal models revealing the genetic and epigenetic mechanisms of neurodegenerative diseases;
- Potential therapeutic targets for neurodegenerative diseases;
- Results of gene-based clinical trials.
First, due to the heterogeneity of clinical phenotypes and underlying physiology from person to person, it is critical and challenging to discover new diagnostic biomarkers and improve diagnostic accuracy to enable timely and more reliable diagnosis in the early stages of the disease. Second, in addition to the mechanisms by which genetic variants are implicated in the pathogenesis of neurodegenerative diseases, the potential role of copy number variants (CNVs), which alter copy number between individuals through duplication or deletion of DNA segments, and epigenetic modifications, which affect gene expression through modification of DNA, RNA, chromatin, and histone proteins, must be further deciphered. Finally, future research in neurodegenerative diseases should also address the development of targeted gene therapies and epigenetic modification strategies. Better care for the elderly to enable them to live with more ease and dignity is also part of the effort. The application of high-throughput technologies in combination with gene-chip technology and a better understanding of genetics in neurodegenerative diseases may have implications for genetic diagnostic approaches, evidence-based and tailored therapeutic strategies, better care for patients, especially in advanced age, and prevention of relapse in families.
We welcome Original Research, Methods, Review and Brief Report that include, but are not limited to, but not limited to, the genetic and epigenetic basis of neurodegenerative diseases
- Clinical diagnosis and biomarkers in neurodegenerative diseases;
- Genes associated with neurodegenerative diseases;
- Interactions of gene variants on neurodegenerative disease risk and possible biological mechanisms;
- CNVs involved in neurological diseases with different genomic analysis platforms;
- Mechanisms involved in neurodegenerative diseases;
- Cellular and animal models revealing the genetic and epigenetic mechanisms of neurodegenerative diseases;
- Potential therapeutic targets for neurodegenerative diseases;
- Results of gene-based clinical trials.
Keywords: Genetic variants, Epigenetic modifications, Neurological disease, Therapeutic target, Biomarker
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