A genetic disorder, also called a genetic brain injury (GBI), is a medical ailment that is caused by one or more genetic abnormalities. It could be caused by a chromosomal abnormality or a mutation in a single gene (monogenic) or multiple genes (polygenic). Although polygenic illnesses are the most common, the word is usually reserved for ailments with a single genetic cause, such as a gene or chromosome mutation. The disorder can be inherited from two parents who are carriers of a faulty gene (autosomal recessive inheritance) or from a parent who already has the disorder (autosomal dominant inheritance) (autosomal dominant inheritance).
When a genetic anomaly is inherited from one or both parents, it is commonly referred to as a hereditary disease. Some diseases are inherited through the X chromosome and are caused by a mutation on the X chromosome. Only a few disorders are passed on through the mitochondrial DNA or the Y chromosome (due to their size).
There are over 6,000 genetic disorders that have been diagnosed, and new genetic anomalies are published in the medical literature on a regular basis. There are approximately 600 genetic diseases that are treatable. A single-gene problem affects roughly one out of every 50 people, while chromosomal disorders impact about one out of every 263 people. Around 65 percent of persons suffer from health problems as a result of congenital genetic abnormalities.
A “rare” genetic condition affects one out of every twenty-one people due to the high number of genetic defects (usually defined as affecting less than 1 in 2,000 people). In and of themselves, the majority of hereditary disorders are rare.
Birth defects can be caused by prenatal genetic abnormalities, and some genetic illnesses can induce birth malformations, but they can also be caused by developmental rather than hereditary reasons. A hereditary illness is the polar opposite of an acquired illness. Despite the presence of genetic defects in a small fraction of the body’s cells, most malignancies are acquired diseases. Some cancer syndromes, such as BRCA mutations, are hereditary genetic disorders.