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Eventually the researchers searched for people who had a mutation in just one copy of TREM2.
But studies of different organisms — the roundworm Caenorhabditis elegans that she works with as well as yeast, flies, and mice — have found that a mutation in just one gene can dramatically increase life span, she says.
New research suggests that the history of sickle-cell disease goes back to a mutation in just one person, a development researchers hope will make treatment less complicated for the many people who suffer from this painful illness.
Furthermore, both mice and humans harboring a germ-line inactivating mutation in just one allele of the p53 gene develop tumors early in life and at very high frequencies [2]-[5].
Hence mutations in both genes might be expected to offer a selective advantage over a mutation in just one of them.
Interestingly, this treatment was successfully applied on an Ataxia-telangiectasia patient with heterozygous nonsense mutation, thereby demonstrating therapeutic ability despite the presence of a nonsense mutation in just one allele [Nakamura et al., 2011].
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This strategy resulted in a total of six stabilizing mutations in just two generations with three mutations per generation.
It stands to reason that screening for mutations in just a few select genes is quicker, easier and cheaper than whole-genome sequencing.
In 2013, Dr. Günel was the senior author of a pivotal manuscript published in Science, which unveiled that somatic mutations in just five genes, including two that have never been implicated in neoplasia, can explain the mutational landscape of majority of meningiomas, the most common type of brain tumor.
Most liquid biopsies survey a large number of genes in an attempt to identify therapeutic targets for drugs, but CancerSEEK takes a different approach and focuses on early diagnosis, looking at mutations in just 16 cancer-associated genes and the levels of eight protein biomarkers.
Indeed, repairing the mutations in just the three DNA repair genes completely removed the radiation resistance.
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