Genetic Defects

Genetic defect underlying a rare disease identified

Researchers at MedUni Vienna have discovered the genetic cause of a rare disease characterized by life-threatening "liver crises" in early childhood and subsequent manifestation of neurological symptoms, such as neuropathy ...

Nov 13, 2015
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A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. Most genetic disorders are quite rare and affect one person in every several thousands or millions.

A genetic disorder may or may not be a heritable disorder. Some genetic disorders are passed down from the parents' genes, but others are always or almost always caused by new mutations or changes to the DNA. In other cases, the same disease, such as some forms of cancer, may be caused by an inherited genetic condition in some people, by new mutations in other people, and by non-genetic causes in still other people.

Some types of recessive gene disorders confer an advantage in certain environments when only one copy of the gene is present.

This text uses material from Wikipedia licensed under CC BY-SA

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