Genetic Disorders Write For Us
A genetic disease is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or in several genes (polygenic) by a chromosomal abnormality. Although polygenic disorders are most common, the term is primarily used to refer to disorders with a single genetic cause, either in a gene or in a chromosome.
The responsible mutation can occur spontaneously before embryonic development (a de novo mutation), or it can be inherited. of two parents carrying a defective gene (autosomal recessive inheritance) or of a parent with the disease. Some disorders are caused by a mutation on the X chromosome and have X-linked transmission. Very few disorders are inherited on the Y chromosome mitochondrial DNA.
There are over 6000 known genetic disorders and new genetic disorders are constantly being described in the medical literature. More than 600 of these disorders are treatable. About 1 in 50 people are affected by a known monogenic disease, while about 1 in 263 people are affected by a chromosomal disease. About 65% of people have a health problem as a result of congenital genetic mutations.
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