News tagged with genetic defect

Related topics: genes · gene therapy

Family history doubles aortic stenosis risk

The risk of aortic stenosis doubles when a first degree relative had the disease, according to research presented at ESC Congress 2013 today by Dr. Mattis F. Ranthe from Denmark. The study of 4.2 million people from Danish ...

Sep 01, 2013
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Hunting for the good news in the human genome

One of the most common and most disabling birth defects, spina bifida strikes about one in 1,000 births in the United States -- nearly as many as Down’s Syndrome. The cause of this often devastating disorder, characterized ...

Apr 29, 2011
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Missed diagnosis: 22q11.2 deletion syndrome

( -- An article published in the June issue of the journal Nature Reviews: Neuroscience provides one of the first comprehensive overviews of the genetic, neural and cognitive bases of a frequently undiagnosed ...

Jul 01, 2010
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Genetic disorder

A genetic disorder is an illness caused by abnormalities in genes or chromosomes. While some diseases, such as cancer, are due in part to a genetic disorders, they can also be caused by environmental factors. Most disorders are quite rare and affect one person in every several thousands or millions. Some types of recessive gene disorders confer an advantage in the heterozygous state in certain environments. A haploid cell has only one set of chromosomes. A diploid cell has two sets of chromosomes. In human, the somatic cells are diploid, and the gametes are haploid.

Genetic diseases are typically diagnosed and treated by geneticists. Genetic counselors assist the physicians and directly counsel patients.[citation needed]

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

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