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What are genetic diseases?

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Hereditary diseases are caused by abnormal genetic material passed on by one or both parents. They can have different symptoms and degrees of severity, and some common ones are cystic fibrosis, sickle cell anemia, and Huntington’s disease. Gene therapy is being researched as a way to cure certain genetic disorders. Inherited diseases can be autosomal recessive or dominant, and genetics is not always the only determining factor. Congenital diseases can also develop at or before birth, but need not be inherited.

Hereditary diseases are caused by abnormal genetic material, such as individual genes and chromosomes, passed on to a child by one or both parents. These types of diseases are also commonly referred to as genetic disorders, inherited genetic disorders, or hereditary diseases and can have different symptoms and degrees of severity. Some common hereditary diseases are cystic fibrosis, a degenerative condition that causes disability and often premature death; sickle cell anemia, which is a blood disorder that can vary in severity; and Huntington’s disease, which causes degeneration of the brain and nervous system. Hereditary disorders often cannot be cured, although symptoms can sometimes be managed with medications and other forms of medical care. Gene therapy, a mostly experimental type of treatment, is being researched as a way to cure certain genetic disorders by removing or altering defective genes.

The genetic material of every human being is made up of a vast number of individual genes that influence a wide variety of traits and abilities, including physical appearance and cognitive function. In this genetic material, there are almost always two copies of each gene: one inherited from each parent. An inherited condition, such as an inherited disease, is passed on to a child if one or both parents have an abnormal gene.

Some inherited diseases, such as cystic fibrosis, are called autosomal recessive diseases and require both genes in the gene pair to be abnormal for the disease to develop. A person who carries just one abnormal gene for a recessive disorder will not develop the disease, but can pass it on to the next generation. Other inherited disorders, such as Huntington’s disease, are called autosomal dominant disorders and require only one of the genes in a pair to be defective for the disease to develop.

Genetics is not always the only determining factor when it comes to hereditary diseases. For example, with some autosomal dominant inherited disorders, not everyone who inherits a defective gene will develop the disease. There are also examples of inherited diseases where the defective genetic material by itself does not cause the disease, but can do so in conjunction with various environmental factors. A related term is congenital disease, which refers to a condition that develops at or before birth, but need not be inherited. One example is Down syndrome, a genetic disorder that is not inherited but is instead caused by an extra chromosome that forms early in fetal development.

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