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image: Genetic Mutation in Amish Linked to Longer Life

Genetic Mutation in Amish Linked to Longer Life

By | November 16, 2017

Mutations in both copies of SERPINE1 can result in blood clotting disorders, but carriers might enjoy longer lifespan and health benefits. 

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With the arrival of a new class of single-nucleotide editors, researchers can target the most common type of pathogenic SNP in humans.

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Spark Therapeutics’s Luxturna would be the first approved therapy in the U.S. that replaces or repairs a defective gene inherited from one’s parents.

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image: Icelanders’ Genomes Hint at Origins of Genetic Diversity

Icelanders’ Genomes Hint at Origins of Genetic Diversity

By | September 20, 2017

An analysis of 14,000 genomes reveals regions where new mutations are more likely to develop.

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image: Scientists Edit Viable Human Embryos in U.S.

Scientists Edit Viable Human Embryos in U.S.

By | July 27, 2017

The embryos, whose genes were altered by CRISPR, were not intended for implantation. 

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Two freely available databases include data on hundreds of human cancer cell lines. 

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image: Most of Human Genome Nonfunctional: Study

Most of Human Genome Nonfunctional: Study

By | July 17, 2017

An estimate derived from fertility rates concludes that at least 75 percent of our DNA has no critical utility.

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image: First Genetic Screen of Pigs Using ENU

First Genetic Screen of Pigs Using ENU

By | July 14, 2017

Using the mutagenic chemical N-ethyl-N-nitrosourea, researchers confirm the role of a gene in a piglet deformity and identify potential models for human diseases. 

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Genomic analysis of an oak tree that lived during Napoleon’s time supports the idea that plants somehow avoid the accumulation of mutations in their stem cells.

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The publicly available database found nearly a third of samples included mutations targeted by either approved drugs or therapies in clinical trials. 

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