Journal of Clinical Genetics and Heredity is an open-access publication aimed at understanding how genetic mutations in specific genes affect the phenotype, and how this information might be harnessed to develop new approaches to therapy. 

Journal of Clinical Genetics and Heredity places focus on the underlying cause of inherited diseases and genetic syndromes such as Fragile-X Syndrome, Thalassemia, Huntington’s disease, Cystic fibrosis, Down syndrome, Mitochiondrial Disease, Muscular Dystrophy, and Patau Syndrome. Special impetus is placed on studies dealing with molecular approaches in understanding the disease pathogenesis. The journal welcomes related studies on the gene therapy to develop fitting solutions for the effective management of the disease.

Topics of particular interest are:

• Linking genetic variations to disease

• Genome rearrangements and disease

• Epigenetics and disease

• The translation of genotype to phenotype

• Genetics of complex disease

• Management/intervention of genetic diseases

• Novel therapies for genetic diseases

• Developmental biology, as it relates to clinical genetics

• Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease