Monogenic disorders are genetic conditions caused by mutations in a single gene. These disorders can be inherited from one or both parents and often follow specific patterns of inheritance, such as autosomal dominant, autosomal recessive, or X-linked. Examples of monogenic disorders include cystic fibrosis, sickle cell anemia, and Huntington's disease.
Because they are linked to a single gene, monogenic disorders can sometimes be diagnosed through genetic testing. Understanding these conditions is crucial for developing targeted treatments and therapies, as well as for providing genetic counseling to affected families.