Genetic Defects

Rare melanoma carries unprecedented burden of mutations

A rare, deadly form of skin cancer known as desmoplasmic melanoma (DM) may possess the highest burden of gene mutations of any cancer, suggesting that immunotherapy may be a promising approach for treatment, according to ...

Sep 08, 2015
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Gene could hold key to treating Parkinson's disease

Researchers at King's College London have identified a new gene linked to nerve function, which could provide a treatment target for 'switching off' the gene in people with neurodegenerative diseases such as Parkinson's disease.

Oct 19, 2015
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Dangerous swelling in babies linked to mutated gene

Scientists have discovered a new gene mutation that causes potentially fatal swelling in unborn and newborn babies. Identifying the gene is the first step toward a future diagnostic test and targeted treatment for this condition.

Sep 23, 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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