Genetic Defects

Genetic choreography of the developing human embryo

Years ago, when I was teaching at a state university, I had the privilege to show real human embryos and fetuses to my genetics classes. An obstetrician back in the 1950s had saved them after patients had miscarried, with ...

Sep 09, 2016
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Scientists find cause of facial widening defects

Widening across the forehead and nose occurs when loss of cilia at the surface of the cells disrupts internal signaling and causes two GLI proteins to stop repressing midfacial growth. Ching-Fang Chang and Samantha Brugmann ...

Nov 01, 2016
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Impaired recycling of mitochondria in autism?

Tuberous sclerosis complex (TSC), a genetic disorder that causes autism in about half of those affected, could stem from a defect in a basic system cells use to recycle their mitochondria, report scientists at Boston Children's ...

Oct 18, 2016
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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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