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[edit | edit source]
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[edit | edit source]
Genetic diseases can be grouped into three main categories:
- Monogenic diseases: These are caused by a mutation in a single gene. Examples include cystic fibrosis, sickle cell anemia, and Marfan syndrome.
- 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.
- Complex diseases: These are caused by a combination of genetic and environmental factors. Examples include heart disease, diabetes, and cancer.
Diagnosis and Treatment[edit | edit source]
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[edit | edit source]
References[edit | edit source]
Navigation: Wellness - Encyclopedia - Health topics - Disease Index - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.Contributors: Prab R. Tumpati, MD