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:
- 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)
- Genetic and Molecular Insights into Cardiovascular Disease: From Mechanisms to Precision Medicine (Deadline: 10 June 2026)
- Genetics of Substance Use and Addictions (Deadline: 10 June 2026)
- Advancements in Pharmacogenomics for Precision Medicine (Deadline: 20 June 2026)
- Genetics and Genomics in Cancer (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)
- Genetic Mechanisms and Therapeutic Strategies in Ovarian Cancer (Deadline: 25 June 2026)
- Monogenic Diabetes—from Basic Scientific Insights to Precision Care and Beyond (Deadline: 25 June 2026)
- Structural and Evolutionary Perspectives on Immunogenetic Variation in Autoimmune and Related Disorders (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)
- Genetic Insights into Aortic Aneurysm Disease (Deadline: 25 July 2026)
- Driver Genes in Prostate Carcinogenesis and Resistance to Treatment (Deadline: 25 July 2026)
- Genetic and Epigenetic Mechanisms Underlying Cancer Stem Cells and Their Implications for Novel Therapeutic Approaches (Deadline: 10 August 2026)
- Genetic and Genomic Mechanisms of Heat Stress in Disease Modulation: From Molecular Pathways to Clinical Manifestations (Deadline: 10 August 2026)
- Genomic and Molecular Determinants of HPV-Related Reproductive Health (Deadline: 15 August 2026)
- Gene Regulatory Networks in Hematologic Malignancies and Cancer (Deadline: 15 August 2026)
- Genomic Medicine in Human Diseases (Deadline: 25 August 2026)
- AI and Neurogenomics: Innovations in Precision Medicine for Brain Disorders (Deadline: 5 September 2026)
- Genetics of Neuromuscular Disorders (Deadline: 10 September 2026)
- Genomic and Epigenomic Mechanisms in the Environmental Regulation of Stress-Related Neuropsychiatric Disorders (Deadline: 15 September 2026)
- Genetics and Genomics of Endocrine Diseases in Children and Adolescents (Deadline: 15 September 2026)
- Genetic and Epigenetic Architecture of Complex Cardiovascular Traits (Deadline: 15 September 2026)
- Genetic Mechanisms of Obesity (Deadline: 25 September 2026)
- Genetic and Epigenetic Drivers of Lung Cancer Heterogeneity and Therapy Resistance (Deadline: 25 September 2026)
- Gene-Regulated Signaling Pathways in Cancer (Deadline: 25 September 2026)
- Genomic Mutations and Susceptibility in Breast Cancer (Deadline: 25 September 2026)
- Utilizing Animal Disease Models to Understand Human Genetics (Deadline: 10 October 2026)
- Genome Sequencing and Genetic Testing for Cancer (Deadline: 10 October 2026)
- Cancer Driver Mutations and Tumor Evolution (Deadline: 10 October 2026)
- Identifying Fertility Biomarkers Using Omics Approach (Deadline: 10 October 2026)
- Advances in Human Reproductive and Prenatal Genetics (Deadline: 15 October 2026)
- Gene Editing Technology for Xenotransplantation in Human Genetic Diseases (Deadline: 15 October 2026)
- The Function and Molecular Mechanism for Immune Responses in Human Diseases (Deadline: 15 October 2026)
- Diagnosis, Management and Therapy of Rare Diseases (Deadline: 15 October 2026)
- Unraveling the Genetic Landscape of Colorectal Cancer: The Latest Breakthroughs and Insights (Deadline: 20 October 2026)
- Genetic Mechanisms of Synaptic Plasticity in Neuropsychiatric Disorders (Deadline: 25 October 2026)
- Genetic Diagnosis and Treatment of Rare Diseases (Deadline: 25 October 2026)
- Genetic and Genomic Insights in Kidney Diseases: Mechanisms, Diagnosis and Therapeutics (Deadline: 25 October 2026)
- Genetic Diagnosis and Therapeutics of Eye Diseases (Deadline: 25 October 2026)
- Genomic Landscapes and Precision Therapeutics of Central Nervous System Malignancies (Deadline: 5 November 2026)
- Genetics of Neuromuscular Disorders: From Gene Diagnosis to Treatment (Deadline: 5 November 2026)
- Emerging Insights in Single-Cell and Spatial Omics for Disease Mechanisms (Deadline: 5 November 2026)
- Genetic Insights into Diseases Related to Mitochondrial Dysfunction: From Diagnosis to Treatment (Deadline: 5 November 2026)
- The Genetics of Prostate Cancer: From Susceptibility to Clinical Outcomes (Deadline: 10 November 2026)
- NGS Applications in Hereditary Kidney Diseases: From Diagnostics to Clinical Impact (Deadline: 15 November 2026)
- Genetic Insights into Pediatric Neurological Disorders: From Mechanisms to Therapies (Deadline: 15 November 2026)
- Epigenetic Insights into Stress-Related Disorders (Deadline: 15 November 2026)
- Genetic Profiling and Molecular Analysis in Autism Spectrum Disorders (Deadline: 15 November 2026)
- Perspectives on Craniofacial Genomics, Genetics, and Development (Deadline: 20 November 2026)
- Genetic and Epigenetic Insights in Autoimmune Diseases (Deadline: 30 November 2026)
- Forensic DNA Profiling: PCR Techniques and Innovations (Deadline: 5 December 2026)
- Genetics of Head and Neck Disorders (Deadline: 15 December 2026)
- Genetic and Molecular Mechanisms of Rare Monogenic Disorders (Deadline: 15 December 2026)
- Rare Genetic Disorders: Molecular Diagnosis, Pathogenesis Insights and Precision Medicine Treatment (Deadline: 15 December 2026)
- Advances in Ophthalmic Genetics (Deadline: 20 December 2026)
- Feature Papers in Human Genomics and Genetic Diseases 2026 (Deadline: 31 December 2026)
- Genetic and Genomic Insights into the Pathogenesis of Kidney Disease (Deadline: 10 January 2027)
- Genetic Insights and Molecular Pathways in Alzheimer's Disease: Unveiling the Complexity of Neurodegeneration (Deadline: 15 January 2027)
Topical Collections
Following topical collections within this section are currently open for submissions:
