hereditary disease

Hereditary diseases are conditions caused by mutations in an individual's genetic material (DNA) that can be passed down from parents to offspring. These mutations can alter the structure or function of proteins, leading to various health problems.1

Pathology is the medical field dedicated to understanding the causes of disease and the resulting structural and functional changes in the body. For hereditary diseases, pathology investigates how genetic mutations lead to observable symptoms and conditions.21

These genetic disorders can arise from changes in single genes (Mendelian or non-Mendelian inheritance) or from larger chromosomal abnormalities. Some genetic diseases, like Huntington disease or cystic fibrosis, follow predictable inheritance patterns, while others, such as those involving imprinted genes, have more complex transmission. Environmental factors can also interact with genetic predispositions to influence the development and severity of these diseases.314