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’s 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;
- Developmental genetics, epigenetics, and epigenomics.
Editorial Board
Special Issues
Following special issues within this section are currently open for submissions:
- Current Advances in Inherited Retinal Disease (Deadline: 25 December 2025)
- The 15th Anniversary of Genes: Feature Papers in the Human Genomics and Genetic Diseases Section (Deadline: 31 December 2025)
- Advances in Genetic Variants in Neurological and Psychiatric Diseases (Deadline: 10 January 2026)
- Structural and Evolutionary Perspectives on Immunogenetic Variation in Autoimmune and Related Disorders (Deadline: 10 January 2026)
- Fragile X Syndrome and Fragile X Premutation Associated Conditions (Deadline: 10 January 2026)
- Immunotherapy in Glioblastoma: Genetic Insights and Innovations (Deadline: 15 January 2026)
- Genetic and Epigenetic Mechanisms Underlying Cancer Stem Cells and Their Implications for Novel Therapeutic Approaches (Deadline: 15 January 2026)
- Genetic Insights into Aortic Aneurysm Disease (Deadline: 15 January 2026)
- Molecular Genetics of Neurodevelopmental Disorders: 2nd Edition (Deadline: 25 January 2026)
- Genomics and Proteomics-Based Molecular Diagnostics and Targeted Therapies in Cancer (Deadline: 25 January 2026)
- Inherited Retinal Diseases: Genetic Research and Novel Therapeutic Prospects (Deadline: 10 February 2026)
- Genetics and Genomics of Pancreatitis (Deadline: 10 February 2026)
- Identifying Fertility Biomarkers Using Omics Approach (Deadline: 10 February 2026)
- Unraveling the Genetic Landscape of Colorectal Cancer: The Latest Breakthroughs and Insights (Deadline: 15 February 2026)
- Genetics of Pediatric Neuro-Oncology (Deadline: 15 February 2026)
- Genetic Insights into Diseases Related to Mitochondrial Dysfunction: From Diagnosis to Treatment (Deadline: 16 February 2026)
- Extracellular Vesicles in Genetic Diseases: Emerging Biomarkers and Clinical Applications (Deadline: 20 February 2026)
- Driver Genes in Prostate Carcinogenesis and Resistance to Treatment (Deadline: 25 February 2026)
- Genetics of Ehlers–Danlos Syndrome and Related Connective Tissue Disorders (Deadline: 25 February 2026)
- Advancing Nephrogenetics: Diagnosis, Genetic Testing, and Treatment Innovations (Deadline: 25 February 2026)
- Genetic and Genomic Mechanisms of Heat Stress in Disease Modulation: From Molecular Pathways to Clinical Manifestations (Deadline: 25 February 2026)
- AI and Neurogenomics: Innovations in Precision Medicine for Brain Disorders (Deadline: 5 March 2026)
- Genetic Profiling and Molecular Analysis in Autism Spectrum Disorders (Deadline: 5 March 2026)
- Genetics and Genomics of Endocrine Diseases in Children and Adolescents (Deadline: 10 March 2026)
- Forensic DNA Profiling: PCR Techniques and Innovations (Deadline: 16 March 2026)
- Machine Learning in Cancer and Disease Genomics (Deadline: 25 March 2026)
- Genetic Mechanisms of Obesity (Deadline: 25 March 2026)
- Genetics and Genomics of Aging and Longevity, Pathways and Response to Nutrients in Mammals and Simple Model Organisms (Deadline: 30 March 2026)
- Novel Biomarkers of Neurodegenerative Diseases (Deadline: 1 April 2026)
- Coordinating Regulation of Gene Expression in Cardiovascular Disease (Deadline: 10 April 2026)
- Genetic Insights and Molecular Pathways in Alzheimer's Disease: Unveiling the Complexity of Neurodegeneration (Deadline: 10 April 2026)
- Next-Generation Sequencing in Rare Genetic Diseases (Deadline: 10 April 2026)
- Advances in Genomics and Epigenetics of Hearing Loss (Deadline: 10 April 2026)
- Advances in Human Reproductive and Prenatal Genetics (Deadline: 15 April 2026)
- Genetic Insights into Aging and Age-Related Diseases (Deadline: 20 April 2026)
- The Function and Molecular Mechanism for Immune Responses in Human Diseases (Deadline: 20 April 2026)
- Genetic Mechanisms of Synaptic Plasticity in Neuropsychiatric Disorders (Deadline: 25 April 2026)
- Application of Genome-Wide Association Studies in Rare Diseases Research (Deadline: 25 April 2026)
- Gene-Regulated Signaling Pathways in Cancer (Deadline: 25 April 2026)
- Genetic Diagnosis and Therapeutics of Eye Diseases (Deadline: 25 April 2026)
- Genomic Data Analysis in Human Health and Disease (Deadline: 27 April 2026)
- Diagnosis, Management and Therapy of Rare Diseases (Deadline: 30 April 2026)
- Genetics of Intracerebral Hemorrhage (Deadline: 30 April 2026)
- Epigenetic Insights into Stress-Related Disorders (Deadline: 5 May 2026)
- Advances in Gene Therapy (Deadline: 10 May 2026)
- Advances in Genetics of Skeletal Development (Deadline: 10 May 2026)
- Genetic Insights into Pediatric Neurological Disorders: From Mechanisms to Therapies (Deadline: 15 May 2026)
- Genetic and Epigenetic Insights in Autoimmune Diseases (Deadline: 20 May 2026)
- Systems Genomics, Mitochondrial Dysfunction, and Immune Dysregulation in Ehlers–Danlos Syndromes and Heritable Connective Tissue Disorders (Deadline: 25 May 2026)
- Genetic Mutations and Molecular Mechanisms in Human Diseases (Deadline: 25 May 2026)
- Advancing Precision Medicine for Lung Cancer Through Genomics (Deadline: 25 May 2026)
- Genetics of Head and Neck Disorders (Deadline: 25 May 2026)
- Clinical Genetics of Diabetes (Deadline: 25 May 2026)
- Genetic, Epigenetic and Environmental Factors in Dental Development and Pathologies: Genes, Interactions and Dental Development (Deadline: 5 June 2026)
- The Genetics of Male Infertility and Clinical Implications (Deadline: 5 June 2026)
- Genes and Pediatrics (Deadline: 5 June 2026)
- Genetic Biomarkers in Cancer: From Discovery to Clinical Application (Deadline: 5 June 2026)
- Genetics of Substance Use and Addictions (Deadline: 10 June 2026)
- Genetics and Genomics in Cancer (Deadline: 20 June 2026)
- Advancements in Pharmacogenomics for Precision Medicine (Deadline: 20 June 2026)
- The CranioFacial Biology Group at the University of Adelaide Collection: Genetic, Epigenetic and Environmental Factors in Complex Adaptive Systems, Multilayer Complex Interactive Networks, and Multiple Models During Oral Development (Deadline: 25 June 2026)
- Insights into the Genomic and Genetic Basis of Cardiovascular Disease (Deadline: 25 June 2026)
- Genomic and Transcriptomic Advances in Amyotrophic Lateral Sclerosis (ALS) and Motor Neuron Diseases (MND) (Deadline: 5 July 2026)
- Genetic and Molecular Insights into Migraine (Deadline: 15 July 2026)
- Genomic and Molecular Determinants of HPV-Related Reproductive Health (Deadline: 15 August 2026)
Topical Collections
Following topical collections within this section are currently open for submissions:
