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:
- Animal Models for Human Diseases: Advances in Genome Editing (Deadline: 20 April 2024)
- Clinical, Functional and Fitness Consequences of Genetic Variants (Deadline: 20 April 2024)
- Molecular Mechanisms of the Polycomb Repressive Complex 2 (PRC2) and Its Role in Human Cancer (Deadline: 25 April 2024)
- Post-transcriptional Regulation in Mammals (Deadline: 30 April 2024)
- Impact of Genetic Testing in Epilepsy and Other Neurological Conditions (Deadline: 1 May 2024)
- The Role of miRNAs in Human Cancer (Deadline: 10 May 2024)
- Genetic Newborn Screening (Deadline: 10 May 2024)
- Genetic Testing for Cancer Susceptibility (Deadline: 15 May 2024)
- Molecular Genetics of Neurodegenerative Diseases and Neuromuscular Diseases (Deadline: 15 May 2024)
- Biomarkers and Early Detection Strategies of Ovarian Cancer (Deadline: 15 May 2024)
- Current Diagnostics for Rare and Ultrarare Diseases (Deadline: 15 May 2024)
- Genetic and Genomic Research of Cardiovascular Diseases (Deadline: 15 May 2024)
- Genetic Architecture of Human Complex Diseases (Deadline: 15 May 2024)
- Genes and Variants in Human Rare Genetic Diseases (Deadline: 20 May 2024)
- Genetics of Obesity (Deadline: 20 May 2024)
- Bioinformatics and Computational Genomics (Deadline: 25 May 2024)
- Research Progress in Hematological Malignancies: A Molecular Genetics Perspective (Deadline: 5 June 2024)
- Molecular Basis and Genetics of Intellectual Disability (Deadline: 5 June 2024)
- Advances in Human Genetics and Multi-omics (Deadline: 10 June 2024)
- Molecular Genetics of Neurodevelopmental Disorders (Deadline: 15 June 2024)
- Genetics and Genomic Advances in Rare Diseases and Common Challenges (Deadline: 15 June 2024)
- Genomic Mosaicism in Human Development and Diseases (Deadline: 15 June 2024)
- Advances in Craniofacial Genetics and Developmental Biology Research (Deadline: 15 June 2024)
- Non-coding RNAs in Human Health and Disease (Deadline: 20 June 2024)
- Molecular Basis and Underlying Mechanisms of Esophageal Cancer Development (Deadline: 25 June 2024)
- From Genetic to Molecular Basis of Kidney Damage (Deadline: 25 June 2024)
- Epigenetic Insights in Human Birth Defects (Deadline: 25 June 2024)
- Molecular Diagnostic and Prognostic Markers of Human Cancers (Deadline: 25 June 2024)
- Genetics of Congenital Heart Diseases (Deadline: 5 July 2024)
- Epigenetics in Human Development and Disease (Deadline: 5 July 2024)
- Genetic and Molecular Bases of Neurodegeneration (Deadline: 15 July 2024)
- Genetics of Rare Monogenic Neurodevelopmental Syndromes (Deadline: 15 July 2024)
- Cardiovascular Disease: Precision Medicine, Pharmacogenomics and Genetics (Deadline: 15 July 2024)
- Genetics and Epigenetics in Cancers (Deadline: 20 July 2024)
- Pharmacogenomics in Infectious Diseases (Deadline: 20 July 2024)
- Genetic and Phenotypic Correlation: Gene–Disease Validation Series II (Deadline: 20 July 2024)
- Genomics and Genetics of Pancreatitis (Deadline: 25 July 2024)
- Variations of Rare Genetic Diseases (Deadline: 25 July 2024)
- Genetics and Genomics of Rare Disorders Volume II (Deadline: 25 July 2024)
- Mechanisms and Regulation of Human DNA Replication (Deadline: 15 August 2024)
- Gene and Cell Therapy (Deadline: 15 August 2024)
- Genetics and Epigenetics in Neurodegenerative Diseases (Deadline: 15 August 2024)
- Molecular and Genetic Control of the Cardiovascular System (Deadline: 20 August 2024)
- Advances in Genetic Counseling and Genetic Testing in Precision Medicine (Deadline: 20 August 2024)
- Epigenetic Markers of Cancer Development and Progression (Deadline: 25 August 2024)
- Clinical Epigenetics in Gastroenterology (Deadline: 5 September 2024)
- Phenotype and Pathogenetic Mechanisms in 22q11.2 Deletion/DiGeorge Syndrome (Deadline: 10 September 2024)
- Diagnosis and Therapies for Rare Diseases (Deadline: 10 September 2024)
- Molecular Basis of Rare Genetic Diseases (Deadline: 10 September 2024)
- Beyond the Basics: Genetic Insights into Male Infertility (Deadline: 10 September 2024)
- Molecular Genetics in Sudden Cardiac Death (Deadline: 10 September 2024)
- Genetics, Genomics and Precision Medicine in Heart Diseases (Deadline: 20 September 2024)
- Genetics and Genomics of Human Breast Cancer (Deadline: 20 September 2024)
- Application of Next-Generation Sequencing in Genetic Diseases Diagnosis (Deadline: 25 September 2024)
- Current Advances in Myotonic Dystrophy (Deadline: 25 September 2024)
- Immunogenomics in Cancer (Deadline: 25 September 2024)
- Molecular Genetic Mechanisms of Oral Diseases (Deadline: 5 October 2024)
- Stroke Genomics and Exit Strategies (Deadline: 15 October 2024)
- Study of Inherited Retinal Diseases—Volume II (Deadline: 15 October 2024)
- Genetics of Complex Human Disease 2024 (Deadline: 20 October 2024)
- Head and Neck Genetics—2nd Edition (Deadline: 20 October 2024)
- Genes and Pathway Regulating Longevity in Model Organisms (Deadline: 20 October 2024)
- The Genetic Diversification of Human Populations, Volume II (Deadline: 5 November 2024)
- Genetic and Cellular Mechanisms in Sickle Cell Disease (Deadline: 25 November 2024)
- Genetic, Epigenetic and Environmental Factors in Dental Development and Pathologies: Genes, Interactions and Dental Development (Deadline: 15 December 2024)
- The Genetic and Epigenetic Basis of Neurodevelopmental Disorders (Deadline: 20 December 2024)
- Feature Papers in Human Genomics and Genetic Diseases 2024 (Deadline: 25 December 2024)
Topical Collections
Following topical collections within this section are currently open for submissions: