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 Testing for Cancer Susceptibility (Deadline: 10 November 2024)
- Genetic Research in Human Reproduction (Deadline: 15 November 2024)
- Genetic Advances and Challenges in Complex Diseases (Deadline: 15 November 2024)
- Impact of Genetic Testing in Epilepsy and Other Neurological Conditions (Deadline: 15 November 2024)
- Study on Genotypes and Phenotypes of Neurodegenerative Diseases—2nd Edition (Deadline: 15 November 2024)
- Genetic and Genomic Research of Cardiovascular Diseases (Deadline: 15 November 2024)
- Genomic Mosaicism in Human Development and Diseases (Deadline: 20 November 2024)
- Genetic Newborn Screening (Deadline: 20 November 2024)
- Genes and Variants in Human Rare Genetic Diseases (Deadline: 20 November 2024)
- Bioinformatics and Computational Genomics (Deadline: 25 November 2024)
- Genetics, Epigenetics and Molecular Therapies of Autoimmune Diseases (Deadline: 25 November 2024)
- Genetic and Cellular Mechanisms in Sickle Cell Disease (Deadline: 25 November 2024)
- Cardiovascular Disease: From Genetics to Therapeutics (Deadline: 25 November 2024)
- Molecular Genetics of Neurodevelopmental Disorders (Deadline: 15 December 2024)
- Genetic, Epigenetic and Environmental Factors in Dental Development and Pathologies: Genes, Interactions and Dental Development (Deadline: 15 December 2024)
- Genetic Architecture of Complex Diseases (Deadline: 15 December 2024)
- The Role of miRNAs in Human Cancer (Deadline: 20 December 2024)
- Genetics of Rare Monogenic Neurodevelopmental Syndromes (Deadline: 20 December 2024)
- Genetic Markers and Liquid Biopsy for Kidney Diseases: 2nd Edition (Deadline: 20 December 2024)
- Human Genetic Adaptations to Environmental and Cultural Factors (Deadline: 20 December 2024)
- Genetic Basis of Rare Inherited Dentin Disorders (Deadline: 20 December 2024)
- The Genetic and Epigenetic Basis of Neurodevelopmental Disorders (Deadline: 20 December 2024)
- Genetic and Genomic Research on Colorectal Cancer (Deadline: 25 December 2024)
- Variations of Rare Genetic Diseases (Deadline: 25 December 2024)
- Feature Papers in Human Genomics and Genetic Diseases 2024 (Deadline: 25 December 2024)
- Exploring the Clinical Frontiers of Pharmacogenomics (Deadline: 25 December 2024)
- Molecular Genetics of Malignant Hyperthermia Susceptibility and Related Diseases (Deadline: 25 December 2024)
- Genomics and Genetics of Pancreatitis (Deadline: 25 December 2024)
- Current Advances and Future Perspectives on Preimplantation Genetic Testing (Deadline: 25 December 2024)
- Advances in Genitourinary Tumour Genomics and Immunotherapy (Deadline: 30 December 2024)
- The Genetic Landscape of Connective Tissue Disorders (Deadline: 5 January 2025)
- Genetic and Genomic Approaches to Human Aging (Deadline: 15 January 2025)
- Rare Neurogenetic Disorders in the Third Millennium: Diagnostic and Therapeutic Challenges (Deadline: 15 January 2025)
- Progress in Hematology: Non-malignant, Pre-malignant, and Malignant Disorders, and Genetically Based Therapies (Deadline: 15 January 2025)
- Genetics of Multifactorial Diseases: 2nd Edition (Deadline: 20 January 2025)
- Genetics and Genomic Advances in Rare Diseases and Common Challenges (Deadline: 20 January 2025)
- Protein Synthesis in Cancer Initiation, Progression, Metastasis, and Dormancy (Deadline: 25 January 2025)
- Genetics and Epigenetics in Addiction Research (Deadline: 25 January 2025)
- Molecular Genetics of Neurodegenerative Diseases and Neuromuscular Diseases (Deadline: 25 January 2025)
- Novel Insights into Prenatal Genetic Testing—2nd Edition (Deadline: 25 January 2025)
- Molecular Diagnostic and Prognostic Markers of Human Cancers (Deadline: 25 January 2025)
- Genetics-Epigenetics Crosstalk in Diseases and Host-Parasite Relationships (Deadline: 25 January 2025)
- Non-coding RNA-Mediated Gene Regulations in Cardiovascular Diseases (Deadline: 25 January 2025)
- Decoding Neuromuscular Disorders: Insights from Genetics and Epigenetics (Deadline: 10 February 2025)
- Molecular and Genetic Control of the Cardiovascular System (Deadline: 15 February 2025)
- Molecular Mechanism of Endocrine Disorders (Deadline: 20 February 2025)
- Antisense Therapy of Cancer (Deadline: 20 February 2025)
- Molecular Discoveries, Clinical Diagnostics, and Personalized Treatments for Human Genetic Diseases (Deadline: 25 February 2025)
- The Role of Hypoxia-Inducible Factors in Cancer Biology (Deadline: 25 February 2025)
- Advances in Genetic Research on Neuromuscular and Neurodevelopmental Disorders (Deadline: 25 February 2025)
- Beyond the Basics: Genetic Insights into Male Infertility (Deadline: 25 February 2025)
- Neuropsychiatric Disorders: Genetics and Targeted Therapy (Deadline: 25 February 2025)
- Inherited Blood Disorders: From Molecular Mechanisms to Diagnostic Tools (Deadline: 5 March 2025)
- Molecular Basis of Rare Genetic Diseases (Deadline: 15 March 2025)
- Genetics in Retinal Diseases—2nd Edition (Deadline: 20 March 2025)
- Genetics and Genomics of Human Breast Cancer (Deadline: 20 March 2025)
- Molecular Investigation of Fibrotic Diseases (Deadline: 20 March 2025)
- Multi-Omics of Lung Diseases (Deadline: 20 March 2025)
- Genetic and Epigenetic Insights of Birth Defects (Deadline: 25 March 2025)
- Machine Learning in Cancer and Disease Genomics (Deadline: 25 March 2025)
- Genetics of Congenital Heart Diseases (Deadline: 5 April 2025)
- Immunogenomics in Cancer (Deadline: 5 April 2025)
- Molecular Basis and Genetics of Intellectual Disability (Deadline: 15 April 2025)
- Genomics of Breast Cancer (Deadline: 15 April 2025)
- Genetics of Dee and Neurocutaneous Syndromes (Deadline: 20 April 2025)
- Detecting and Interpreting Structural Variation in the Human Genome (Deadline: 25 April 2025)
Topical Collections
Following topical collections within this section are currently open for submissions:
