Accompanied with the development of genetics, the interest in the participation of heredity in human disease is growing. There is no question that molecular genetics has changed our viewpoint on human diseases. Based on the mode of inheritance, human genetic diseases could be classified into five subtypes: monogenetic disease (autosomal dominant inheritance, autosomal recessive inheritance, and sex-linked inheritance disease), polygenic disease, mitochondrial disease, chromosomal disease, and somatic cell genetic disease. Up until December 2, 2013, more than 3000 genes with phenotype-causing mutation and 5000 phenotypes with known molecular basis were described in OMIM. The advent of next-generation sequencing (NGS) technology, such as exome sequencing and whole-genome sequencing, and application of genome-wide association study (GWAS) and comparative genomic hybridization (CGH) chip uncovered more genes in rare Mendelian disorders, complex diseases, and chromosomal disease, dramatically providing new way and accelerating genomic research in human genetic diseases.

We invite authors to submit original research articles as well as review articles that will stimulate the understanding of molecular pathology underlying human genetics diseases.

Potential topics include, but are not limited to:

• Identification of new mutation(s) or variant(s) in human genetic diseases
• Advance in human genetic diseases
• Recent development of genetics in medicine
• New cellular or animal models to uncover the genetic mechanism of human genetic diseases
• Application of NGS, GWAS, and CGH in human genetic diseases
• Advances in gene targeting therapy in human genetic diseases