Genetic equilibrium

Genetic Disease

A genetic disease is a type of disease that is caused by an abnormality in an individual's genome. This abnormality can range from minuscule to major - from a discrete mutation in a single base in the DNA of a single gene to a gross chromosome abnormality involving the addition or subtraction of an entire chromosome or set of chromosomes.

Causes

Most genetic diseases are the direct result of a mutation in one gene. However, one of the most difficult problems ahead is to further elucidate how genes contribute to diseases that have a complex pattern of inheritance, such as in the cases of diabetes, asthma, cancer and mental illness. These diseases are multifactorial inheritance disorders, meaning they are caused by a combination of small variations in genes, often in concert with environmental factors.

Types of Genetic Diseases

Genetic diseases can be grouped into three main categories:

1. Monogenic diseases: These are caused by a mutation in a single gene. Examples include cystic fibrosis, sickle cell anemia, and Marfan syndrome.
2. Chromosomal diseases: These are caused by abnormalities in chromosomes, or by mutations in genes on the chromosomes. Examples include Down syndrome, Turner syndrome, and Klinefelter syndrome.
3. Complex diseases: These are caused by a combination of genetic and environmental factors. Examples include heart disease, diabetes, and cancer.

Diagnosis and Treatment

The diagnosis of genetic diseases can be complex, often involving a combination of genetic testing, medical imaging, and physical examination. Treatment can vary widely depending on the specific disease, and may include gene therapy, medication, surgery, or physical therapy.

See Also

• Genetic disorder
• Genetic variation
• Human genetic variation
• Genetic testing
• Genetic counseling