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:
- Genetic and Epigenetic Investigations into the Pathogenesis and Pathophysiology of the Metabolic Syndrome (Deadline: 20 May 2022)
- Bioinformatics and Genetics of Human Diseases (Deadline: 25 May 2022)
- Molecular Basis of Rare Diseases (Deadline: 30 May 2022)
- Genetic and Epigenetic Contributions to Hypertension and Blood Pressure Response to Interventions (Deadline: 30 May 2022)
- Study of Inherited Retinal Diseases (Deadline: 10 June 2022)
- Genetic and Epigenetic Mechanisms on Psoriasis (Deadline: 10 June 2022)
- Screens, Genes, and Phenotypes (Deadline: 10 June 2022)
- Genetics of Eating Disorders (Deadline: 17 June 2022)
- Multiple Molecular Diagnoses in Rare Disease through Massive Parallel Sequencing Approach (Deadline: 20 June 2022)
- Genetic Research of Iron Homeostasis and Related Diseases (Deadline: 25 June 2022)
- Autoimmunity and Genetic Syndromes (Deadline: 25 June 2022)
- Updates of DNA Variations in Evolution and Human Diseases (Deadline: 25 June 2022)
- Insights into Heritability of Glaucoma and Other Optic Neuropathies (Deadline: 5 July 2022)
- Epigenetics of Fragile X and Other Neurodevelopmental Disorders (Deadline: 10 July 2022)
- Genetic and Epigenetic Factors and Their Interactions in the Susceptibility to Multifactorial Diseases (Deadline: 15 July 2022)
- Parkinson's Disease: Genetics and Pathogenesis (Deadline: 15 July 2022)
- Non-coding RNAs in Human Health and Diseases (Deadline: 20 July 2022)
- Gene Editing for Therapy and Reverse Genetics of Blood Diseases (Deadline: 25 July 2022)
- Molecular Mechanisms of Immune Cell Function in Obesity and Related Diseases (Deadline: 25 July 2022)
- Progress in Genetics of Autism (Deadline: 25 July 2022)
- Gene and Phenotype Driven Studies of Brain, Behaviour, and Mental Health (Deadline: 25 July 2022)
- Genetics of Muscular Dystrophies from Pathogenesis to Gene Therapy (Deadline: 1 August 2022)
- Genetics of Alzheimer’s Disease: Clues for Early Diagnosis and Intervention (Deadline: 15 August 2022)
- Zebrafish Models for Human Genetic Disease Studies (Deadline: 15 August 2022)
- Genomics of Neuropsychiatric Disorders (Deadline: 15 August 2022)
- Genomics of Disease Risk in Diverse Populations (Deadline: 20 August 2022)
- Novel Insights into Prenatal Genetic Testing (Deadline: 20 August 2022)
- Genetics and Genomics of Skeletal Disorders (Deadline: 20 August 2022)
- Genetic Predisposition to Tumors of the Digestive System (Deadline: 20 August 2022)
- Cellular and Developmental Biology of Lipid Metabolism (Deadline: 25 August 2022)
- Study on Genotypes and Phenotypes of Neurodegenerative Diseases (Deadline: 5 September 2022)
- Epigenomics, Epitranscriptomics and Novel Therapy Approaches in Hematology (Deadline: 10 September 2022)
- Head and Neck Genetics (Deadline: 15 September 2022)
- Nutrigenomics and Cellular Metabolism (Deadline: 20 September 2022)
- Feature Papers in Human Genomics and Genetic Diseases (Deadline: 20 September 2022)
- 22q11.2 Deletion Syndrome (Deadline: 24 September 2022)
- Genetics of Epileptic Encephalopathies: From Gene Discovery to Clinical Diagnosis and Management Implications of Genetic Diagnoses (Deadline: 30 September 2022)
- Molecular Genetics and Genomics of Metabolic Disorders in Cardiovascular and Cerebrovascular Diseases (Deadline: 5 October 2022)
- Genetics Studies of Bone Disease (Deadline: 10 October 2022)
- DNA Damage, Genome Instability and Cancer (Deadline: 15 October 2022)
- Recent Advance in Cardiovascular Genetics (Deadline: 15 October 2022)
- Genetic Basis Underlying Neuropsychiatric Disorders (Deadline: 20 October 2022)
- Genetics of Ear Development and Hearing Loss (Deadline: 20 October 2022)
- Nephrogenetics and Kidney Genomics—the Future Is Now? (Deadline: 20 October 2022)
- RNA Splicing in Cancer and Targeted Therapies (Deadline: 5 November 2022)
- Update on Asthma Genetics (Deadline: 15 November 2022)
- Human Reproductive Genetics (Deadline: 20 November 2022)
- Genomics of Mood Disorders (Deadline: 20 November 2022)
- Genetic Risks and Molecular Epidemiology of Osteoarthritis (Deadline: 20 November 2022)
- Integrative Multi-Omics, Single-Cell and Spatial Approaches to Study Complex Diseases (Deadline: 5 December 2022)
- Genetics and Pathogenesis of Inherited Eye Diseases (Deadline: 10 December 2022)
- Genetic and Phenotypic Correlation: Gene-Disease Validation (Deadline: 15 December 2022)
- Genetics of Complex Human Disease (Deadline: 15 December 2022)
- Genetics and Mechanistic Basis of Cardiomyopathies (Deadline: 15 December 2022)
- Genetics of Rett Syndrome and Rett-Like Phenotypes: From Gene Discovery to Management and Treatment (Deadline: 15 December 2022)
- Genes, Interactions, and Dental Development: Advances in Understanding Genetic, Epigenetic and Environmental Interactions (Deadline: 15 December 2022)
- Facial Morphology-Related Genes and Applications (Deadline: 20 December 2022)
- Molecular Genetics of Pancreatitis (Deadline: 20 December 2022)
- New Insights Into the Genetics of Rheumatic Diseases (Deadline: 20 December 2022)
- Genetics of Sleep and Sleep Disorders (Deadline: 20 January 2023)
- Updates on Cilia Biology and Cilia-Associated Disorders (Deadline: 20 January 2023)
- Genetic and Genomics of Colorectal Cancer (Deadline: 20 February 2023)
Topical Collections
Following topical collections within this section are currently open for submissions:
