Human Genomics and Genetic Diseases
A section of Genes (ISSN 2073-4425).
Section Information
The section “Human Genomics and Genetic Diseases” covers the basic and translational aspects of human genetic and genomic research, from fundamental molecular investigation, to preclinical animal models and clinical studies. In particular, this section aims to facilitate the rapid publication of innovative research encompassing the genetic basis of human health and disease, as well as the diagnosis, treatment and prognosis of genetic disorders, and heritable or acquired cancers. We welcome submissions that apply new and emerging technologies in the fields of genomics, transcriptomics and bioinformatic tools to advance knowledge in human genetic diseases and their clinical management, or address legal and ethical issues. Some of the section specialty areas include, but are not limited to:
- Genetics of monogenic diseases and complex diseases; genotype–phenotype relationships
- Population genomics and genetic epidemiology
- Precision medicine; pharmacogenetics and pharmacogenomics
- Targeted genome editing; gene therapy and delivery systems; genetically-engineered cell therapy
- RNA and small nucleic acid based therapeutics
- Genetic testing and molecular diagnostics; biomarker development and application; genome-wide association studies
- Epigenetic therapy; cancer immunotherapy
- Developmental genetics; epigenetics and epigenomics
Editorial Board
Special Issues
Following special issues within this section are currently open for submissions:
- Molecular Genetics of Pancreatitis (Deadline: 20 June 2023)
- Genomics and Epigenomics of Gastrointestinal Disorders (Deadline: 20 June 2023)
- Translational Research in Human Diseases (Deadline: 20 June 2023)
- Craniofacial Bone and Dental Genetics, Metabolism, Aging, and Disorders in 2023 (Deadline: 20 June 2023)
- Genetic Predispositions to Tumors of the Digestive System (Deadline: 20 June 2023)
- Post-transcriptional Regulation in Mammals (Deadline: 25 June 2023)
- Genetic Variation in Humans and Pathogens Associated with Gastric (Stomach) Cancer (Deadline: 25 June 2023)
- Phenotypic Characterization and Genomic Methodology of Rare Diseases (Deadline: 25 June 2023)
- Stroke Genetics (Deadline: 25 June 2023)
- Genetic Basis Underlying Neuropsychiatric Disorders 2.0 (Deadline: 25 June 2023)
- Genetics of Mitochondria and Cardiovascular Disease (Deadline: 5 July 2023)
- Genetics, Genomics and Precision Medicine in Pediatric Heart Diseases (Deadline: 5 July 2023)
- RNA Splicing in Cancer and Targeted Therapies (Deadline: 5 July 2023)
- Genomic Epidemiology of SARS-CoV-2 (Deadline: 15 July 2023)
- Genetic Technologies in Cardiovascular Disease: New Tools, Insights, and Opportunities (Deadline: 15 July 2023)
- Head and Neck Genetics (Deadline: 15 July 2023)
- Alternative Splicing in Cancer (Deadline: 15 July 2023)
- Gene and Cell Therapy of Human Genetic Diseases: Recent Advances and Future Directions (Deadline: 15 July 2023)
- Genetics of Multifactorial Diseases (Deadline: 15 July 2023)
- Genetic and Phenotypic Correlation: Gene-Disease Validation (Deadline: 20 July 2023)
- Drosophila: A Genetic Model for Studying Human Diseases (Deadline: 20 July 2023)
- Epigenetics of Diabetes and Its Vascular Complications (Deadline: 20 July 2023)
- Gene Editing in Stem Cells—a New Era in Regenerative Medicine (Deadline: 20 July 2023)
- Demystifying Genetics in Hematologic Neoplasms (Deadline: 25 July 2023)
- Genetics and Mechanistic Basis of Cardiomyopathies (Deadline: 25 July 2023)
- Genetic Variants in Human Population and Diseases (Deadline: 25 July 2023)
- Genetics and Genomics of Rare Disorders (Deadline: 25 July 2023)
- Role of MicroRNA in Cancer (Deadline: 25 July 2023)
- Pharmacogenomics of Human Diseases (Deadline: 25 July 2023)
- Genetic Basis of Autoimmune Diseases (Deadline: 10 August 2023)
- Genetic Susceptibility of Infectious Disease (Deadline: 10 August 2023)
- Genetic and Genomics of Colorectal Cancer (Deadline: 15 August 2023)
- Genetics of Rare Monogenic Neurodevelopmental Syndromes (Deadline: 20 August 2023)
- Genetic Studies of Diabetes and Diabetes Complications (Deadline: 20 August 2023)
- Cellular and Molecular Pathobiology of Esophageal Squamous Cell Carcinoma (Deadline: 25 August 2023)
- Identifying the Molecular Basis of Rare Genetic Diseases (Deadline: 25 August 2023)
- Diagnosis and Therapies for Genetic Diseases (Deadline: 25 August 2023)
- Genetic Factors and Their Interactions in the Susceptibility to Multifactorial Diseases in 2023 (Deadline: 25 August 2023)
- Recent Advances and Future Perspectives in Rare Cancers (Deadline: 25 August 2023)
- Molecular Genetics of Breast Cancer (Deadline: 25 August 2023)
- Non-coding RNAs in Human Health and Disease (Deadline: 25 August 2023)
- Genomics and Precision Medicine in Hematopoietic Malignancies (Deadline: 25 August 2023)
- Study on Genotypes and Phenotypes of Neurodegenerative Diseases (Deadline: 5 September 2023)
- Diagnosis of Rare Genetic Disorders (Deadline: 5 September 2023)
- Genetics and Pharmacogenetics in Primary Care (Deadline: 5 September 2023)
- Vector Borne Infectious Diseases and Vectors: Biology, Genetics, Evolution, and Control (Deadline: 10 September 2023)
- Transcriptional and Epigenetic Regulation of Gene Expression in Stem Cell (Deadline: 15 September 2023)
- Genome-Wide Association Study (GWAS) on Special Human Phenotypes (Deadline: 15 September 2023)
- Research on Adult Genetic Disorders and Chromosomal Disorders (Deadline: 15 September 2023)
- Molecular Pathogenesis of Parkinson’s Disease (Deadline: 15 September 2023)
- Feature Papers in Human Genomics and Genetic Diseases 2023 (Deadline: 20 September 2023)
- Genetics of Deafness, from Diagnostics, Prognostics to Therapeutics (Deadline: 20 September 2023)
- Genetics of Human Cardiovascular Disease (Deadline: 20 September 2023)
- Genomics of Breast Cancer (Deadline: 20 September 2023)
- Genetic Studies of Kidney Diseases (Deadline: 25 September 2023)
- Genetic Predisposition to Polycystic Ovary Syndrome (Deadline: 25 September 2023)
- Host Genetics and Infectious Disease (Deadline: 25 September 2023)
- Nutrigenomics and Cellular Metabolism (Deadline: 1 October 2023)
- Genetic Research of Retinal Diseases (Deadline: 10 October 2023)
- Molecular Genetic Mechanisms of Oral Diseases (Deadline: 15 October 2023)
- Statistical Genetics of Complex Human Diseases and Phenotypes (Deadline: 20 October 2023)
- Genetics in Pediatric Neurodevelopmental Disorders (Deadline: 20 October 2023)
- Molecular Oncology–Unmask the True Nature of Cancer 2023 (Deadline: 20 October 2023)
- Pharmacogenomics of Cardiovascular Disease (Deadline: 20 October 2023)
- Genes, Interactions, and Dental Development: Advances in Understanding Genetic, Epigenetic and Environmental Interactions (Deadline: 20 October 2023)
- mtDNA and Mitochondrial Stress Signaling in Cancers (Deadline: 25 October 2023)
- Cellular and Developmental Biology of Lipid Metabolism (Deadline: 25 October 2023)
- Signaling and Gene Regulation in Metabolism (Deadline: 25 October 2023)
- Novel Insights into Prenatal Genetic Testing (Deadline: 25 October 2023)
- Stem Cells and Cancer: Genetic and Epigenetic Mechanisms, Therapy Resistance and Reversal Strategies (Deadline: 25 October 2023)
- Epigenetic Regulation of Gene Expression in Cancer (Deadline: 25 October 2023)
- Precision Oncology in Clinical Cancer Genomics (Deadline: 25 October 2023)
- Large-Scale Optimization Based Bioinformatics and Genetic Diseases (Deadline: 25 October 2023)
- Molecular Mechanisms of the Polycomb Repressive Complex 2 (PRC2) and Its Role in Human Cancer (Deadline: 25 October 2023)
- Impact of Genetic Testing in Epilepsy and Other Neurological Conditions (Deadline: 10 November 2023)
- Human Developmental Disability, Neurogenetics and Rare Diseases: From Basic Science to Genetic Counseling (Deadline: 10 November 2023)
- Updates of DNA Variations in Evolution and Human Diseases (Deadline: 10 November 2023)
- Genetics and Genomics for Clinical Monitoring and Diagnosis 2023 (Deadline: 15 November 2023)
- Genetic Newborn Screening (Deadline: 15 November 2023)
- Genetics of Eye Development and Disease (Deadline: 15 November 2023)
- Signaling Pathways in Cancers (Deadline: 20 November 2023)
- Molecular Genetics of Neurodegenerative Diseases and Neuromuscular Diseases (Deadline: 20 November 2023)
- Evolutionary Genomics of Psychiatric Disorders (Deadline: 20 November 2023)
- Advances in Human Genetics and Multi-Omics (Deadline: 20 November 2023)
- Molecular and Genetic Diagnosis of Rare Diseases (Deadline: 20 November 2023)
- Genetics of Childhood Obesity (Deadline: 20 November 2023)
- Nutrigenomics and Personalized Nutrition in Epigenetics of Obesity, Diabetes and Related Conditions (Deadline: 25 November 2023)
- Epigenetics in Human Development and Disease (Deadline: 25 November 2023)
- Small Non-coding RNAs in Normal Physiology, Development and Diseases (Deadline: 25 November 2023)
- Mitochondrial Diseases and Human Health (Deadline: 1 December 2023)
- RNA Splicing in Health and Disease (Deadline: 5 December 2023)
- Molecular Basis and Genetics of Intellectual Disability (Deadline: 15 December 2023)
- Mechanisms and Regulation of Human DNA Replication (Deadline: 20 December 2023)
- Statistical Genetics of Human Complex Traits (Deadline: 20 December 2023)
- Genomic Mosaicism in Human Development and Diseases (Deadline: 20 December 2023)
- Genetics of Skin Disorders (2.0 Edition) (Deadline: 20 December 2023)
- Research Progress in Hematological Malignancies: A Molecular Genetics Perspective (Deadline: 25 December 2023)
- Genetics of Complex Human Disease 2023 (Deadline: 20 January 2024)
- Recent Advances in Pathogenesis, Diagnostics, and Therapies in Lung Diseases (Deadline: 25 January 2024)
- Genetics of Congenital Heart Diseases (Deadline: 25 January 2024)
- MicroRNAs and Mitochondrial Dynamics in Heart Regeneration (Deadline: 25 January 2024)
- The Genetic Basis of Mental Disorders (Deadline: 15 February 2024)
- Clinical, Functional and Fitness Consequences of Genetic Variants (Deadline: 20 April 2024)
Topical Collections
Following topical collections within this section are currently open for submissions:
