News tagged with genetic diseases

Related topics: genes , genome

Gene clues to glaucoma risk

Scientists on Sunday said they had identified six genetic variants linked to glaucoma, a discovery that should help earlier diagnosis and better treatment for this often-debilitating eye disease.

Aug 31, 2014
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New DNA test for diagnosing diseases linked to childhood blindness

Researchers in the United Kingdom have demonstrated that advanced DNA testing for congenital cataracts can quickly and accurately diagnose a number of rare diseases marked by childhood blindness, according to a study published online today in Ophthalmology, the journal of the American Academy o ...

Aug 21, 2014
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Toxic proteins damage nerve cells

Scientists at the Max Planck Institute for Biology of Ageing in Cologne and University College London have now unearthed the way in which a specific genetic mutation leads to neuronal damage in two serious ...

Aug 12, 2014
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Study pinpoints protective mutations for type 2 diabetes

An international team led by researchers at the Broad Institute and Massachusetts General Hospital (MGH) has identified mutations in a gene that can reduce the risk of developing type 2 diabetes, even in people who have risk ...

Mar 02, 2014
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New drug reduces negative memory

Through analysis of the human genome, Basle scientists have identified molecules and compounds that are related to human memory. In a subsequent pharmacological study with one of the identified compounds, the scientists found ...

Oct 21, 2013
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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]

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