Here we discuss how mutations appear and how they cause genetic disorder.
(also called genetic disorders) occur when changes to DNA (referred to as genetic mutations) result in an alteration in the instructions that prevent or alter protein function or prevent protein expression entirely. Genetic can be passed down from parents. But they can also occur randomly or can be due to environmental factors. Some genetic mutations are harmless, but others can result in genetic diseases that affect our health. There are three main types of genetic diseases1:
- (also called monogenic diseases), where a change occurs in one gene only—this is currently a major focus of research in gene therapy
- , where chromosomes (or parts of chromosomes) are missing or altered
- , where changes occur in two or more genes
Gene therapy is being studied as a way to treat the effects of these mutations.