FAQ About Genetic Disorders

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services

Frequently Asked Questions About Genetic Disorders

What are genetic disorders?

A genetic disorder is a disease caused in whole or in part by a change in the DNA sequence away from the normal sequence. Genetic disorders can be caused by a mutation in one gene (monogenic disorder), by mutations in multiple genes (multifactorial inheritance disorder), by a combination of gene mutations and environmental factors, or by damage to chromosomes (changes in the number or structure of entire chromosomes, the structures that carry genes).

As we unlock the secrets of the human genome (the complete set of human genes), we are learning that nearly all diseases have a genetic component. Some diseases are caused by mutations that are inherited from the parents and are present in an individual at birth, like sickle cell disease. Other diseases are caused by acquired mutations in a gene or group of genes that occur during a person's life. Such mutations are not inherited from a parent, but occur either randomly or due to some environmental exposure (such as cigarette smoke). These include many cancers, as well as some forms of neurofibromatosis.

Genetic disorders typically involve the inheritance of a particular mutated disease-causing gene, such as sickle cell disease, cystic fibrosis, and Tay-Sachs disease. The mutated gene is passed down through a family, and each generation of children can inherit the gene that causes the disease. Rarely, one of these monogenic diseases can occur spontaneously in a child when his/her parents do not have the disease gene, or there is no history of the disease in the family. This can result from a new mutation occurring in the egg or sperm that gave rise to that child.

Most genetic disorders, however, are "multifactorial inheritance disorders," meaning they are caused by a combination of inherited mutations in multiple genes, often acting together with environmental factors. Examples of such diseases include many commonly-occurring diseases, such as heart disease and diabetes, which are present in many people in different populations around the world.

Research on the human genome has shown that although many commonly occurring diseases are usually caused by inheritance of mutations in multiple genes at once, such common diseases can also be caused by rare hereditary mutations in a single gene. In these cases, gene mutations that cause or strongly predispose a person to these diseases run in a family, and can significantly increase each family member's risk of developing the disease. One example is breast cancer, where inheritance of a mutated BRCA1 or BRCA2 gene confers significant risk of developing the disease. .

Geneticists group genetic disorders into three categories:

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Last Updated: November 10, 2015