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 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; cancer immunotherapy
  • Developmental genetics; epigenetics and epigenomics

Editorial Board

Special Issues

Following special issues within this section are currently open for submissions:

Papers Published

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