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:
- Progress in Hematology: Non-Malignant, Pre-Malignant, and Malignant Disorders, and Genetically Based Therapies (Deadline: 25 July 2025)
- Molecular Discoveries, Clinical Diagnostics, and Personalized Treatments for Human Genetic Diseases (Deadline: 25 July 2025)
- Molecular Genetics of Malignant Hyperthermia Susceptibility and Related Diseases (Deadline: 5 August 2025)
- Neuropsychiatric Disorders: Genetics and Targeted Therapy (Deadline: 15 August 2025)
- Molecular Genetics of Metabolism and Related Diseases (Deadline: 15 August 2025)
- Genomic Basis of Pediatric Kidney Diseases (Deadline: 15 August 2025)
- Genetics in Retinal Diseases—2nd Edition (Deadline: 25 August 2025)
- Fragile X Syndrome and Fragile X Premutation Associated Conditions (Deadline: 25 August 2025)
- Genetic and Epigenetic Insights of Birth Defects (Deadline: 25 August 2025)
- Clinical Diagnosis and Analysis of Cancers (Deadline: 25 August 2025)
- Genes and Pediatrics (Deadline: 25 August 2025)
- From Genetic to Molecular Basis of Kidney Diseases (Deadline: 25 August 2025)
- Genetics and Genomics of Retinal Development and Diseases (Deadline: 25 August 2025)
- Molecular Genetics of Rare Disorders (Deadline: 10 September 2025)
- Molecular Basis and Genetics of Intellectual Disability (Deadline: 20 September 2025)
- AI and Neurogenomics: Innovations in Precision Medicine for Brain Disorders (Deadline: 20 September 2025)
- Inherited Retinal Diseases: Genetic Research and Novel Therapeutic Prospects (Deadline: 25 September 2025)
- Advances in Craniofacial Genetics (Deadline: 25 September 2025)
- Advances in Genetic Analysis of Congenital Disorders (Deadline: 25 September 2025)
- Genetic and Epigenetic Influences on Depression: Emerging Therapies and Biomarkers (Deadline: 25 September 2025)
- Machine Learning in Cancer and Disease Genomics (Deadline: 25 September 2025)
- Genetic Research on Cerebrovascular Disease and Stroke (Deadline: 25 September 2025)
- Genetics and Epigenetics of Autoimmune Diseases (Deadline: 25 September 2025)
- Application of Genome-Wide Association Studies in Rare Diseases Research (Deadline: 10 October 2025)
- Opportunities and Prospects of Cancer Gene Therapy (Deadline: 25 October 2025)
- The Opportunities and Challenges of Next-Generation Sequencing in Cancer Biology (Deadline: 25 October 2025)
- Chromatin Remodeling and DNA Repair Pathways in Cancer (Deadline: 25 October 2025)
- Genetics and Epigenetics in Susceptibility to Multifactorial Diseases (Deadline: 30 October 2025)
- Genetics and Genomics of Endocrine Diseases in Children and Adolescents (Deadline: 31 October 2025)
- Genetic, Epigenetic and Environmental Factors in Dental Development and Pathologies: Genes, Interactions and Dental Development (Deadline: 5 November 2025)
- Genetics and Genomics of Lung Cancer (Deadline: 10 November 2025)
- Advances in Gene Therapy (Deadline: 10 November 2025)
- Next-Generation Sequencing in Rare Genetic Diseases (Deadline: 15 November 2025)
- Advances in Genomics and Epigenetics of Hearing Loss (Deadline: 15 November 2025)
- Application of Sequencing Technologies in Cancers (Deadline: 20 November 2025)
- Genetics of Cancer Immunology (Deadline: 20 November 2025)
- Genetic Diagnosis and Therapeutics of Eye Diseases (Deadline: 25 November 2025)
- Diagnosis and Treatment of Inherited Breast Cancer (Deadline: 25 November 2025)
- 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: 5 December 2025)
- Genetic Biomarkers in Cancer: From Discovery to Clinical Application (Deadline: 10 December 2025)
- Insights into the Genomic and Genetic Basis of Cardiovascular Disease (Deadline: 10 December 2025)
- Genetics and Genomics of Lung Diseases (Deadline: 10 December 2025)
- The Genetics of Male Infertility and Clinical Implications (Deadline: 10 December 2025)
- Genetic and Molecular Insights into Cardiovascular Disease: From Mechanisms to Precision Medicine (Deadline: 15 December 2025)
- Advances in Genetics of Skeletal Development (Deadline: 20 December 2025)
- Epigenetics and Multiple Sclerosis (Deadline: 20 December 2025)
- Clinical Genetics of Diabetes (Deadline: 20 December 2025)
- Novel Biomarkers of Neurodegenerative Diseases (Deadline: 20 December 2025)
- Genotype/Phenotype Relationship Versus Therapy Optimization in a Monocentric Fabry Disease Cohort (Deadline: 20 December 2025)
- The Function and Molecular Mechanism for Immune Responses in Human Diseases (Deadline: 25 December 2025)
- Current Advances in Inherited Retinal Disease (Deadline: 25 December 2025)
- Genomic Data Analysis in Human Health and Disease (Deadline: 31 December 2025)
- The 15th Anniversary of Genes: Feature Papers in the Human Genomics and Genetic Diseases Section (Deadline: 31 December 2025)
- Structural and Evolutionary Perspectives on Immunogenetic Variation in Autoimmune and Related Disorders (Deadline: 10 January 2026)
- Advances in Genetic Variants in Neurological and Psychiatric Diseases (Deadline: 10 January 2026)
- Genetic Insights into Aortic Aneurysm Disease (Deadline: 15 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)
- Genomics and Proteomics-Based Molecular Diagnostics and Targeted Therapies in Cancer (Deadline: 25 January 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)
- Forensic DNA Profiling: PCR Techniques and Innovations (Deadline: 16 March 2026)
- Genetics and Genomics of Aging and Longevity, Pathways and Response to Nutrients in Mammals and Simple Model Organisms (Deadline: 30 March 2026)
- Diagnosis, Management and Therapy of Rare Diseases (Deadline: 30 April 2026)
Topical Collections
Following topical collections within this section are currently open for submissions:
