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Channel: mutations – NIH Director's Blog
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Fishing for Answers in Human Disease

Caption: Researcher Zhaoxia Sun, at Yale, uses the zebrafish to study Polycystic Kidney Disease, which affects more than 600,000 Americans. Mutations in the zebrafish vhnf1 gene, and its human...

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New Understanding of a Common Kidney Cancer

Caption: Histologic image of clear cell kidney cancerSlide courtesy of W. Marston Linehan, National Cancer Institute, NIH Understanding how cancer cells shift into high gear—what makes them become more...

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Fighting Obesity: New Hopes From Brown Fat

Caption: Brown fat—actually marked in green on this image—is wrapped around the neck and shoulders. This “shawl” of brown fat warms blood before it travels to the brain.Illustration: John MacNeill,...

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Deciphering Secrets of Longevity, from Worms

Caption: Long-lived worms show increased activation of DAF-16 (green), a protein linked with longevity in worms and humans.Credit: Kapahi Lab, Buck Institute for Research on Aging, Novato, CA How long...

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Study Finds Genetic Mutations in Healthy Human Tissues

The standard view of biology is that every normal cell copies its DNA instruction book with complete accuracy every time it divides. And thus, with a few exceptions like the immune system, cells in...

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Finding New Genetic Mutations Amid Healthy Cells

Po-Ru Loh Courtesy of Loh Lab You might recall learning in biology class that the cells constantly replicating and dividing in our bodies all carry the same DNA, inherited in equal parts from each...

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Gene-Editing Advance Puts More Gene-Based Cures Within Reach

Caption: The prime editing system (left) contains three parts: two enzymes, Cas9 and reverse transcriptase, and an engineered guide RNA, pegRNA. Unlike regular CRISPR gene editing, prime editing nicks...

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Mapping Which Coronavirus Variants Will Resist Antibody Treatments

Caption: The antibody LY-CoV016 (purple) is bound to RBD. This “escape map” indicates where in the viral RBD new mutations are most likely to make LY-CoV016 less effective (red). It also shows places...

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Infections with ‘U.K Variant’ B.1.1.7 Have Greater Risk of Mortality

Since the genome sequence of SARS-CoV-2, the virus responsible for COVID-19, was first reported in January 2020, thousands of variants have been reported. In the vast majority of cases, these...

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New Technology Opens Evolutionary Window into Brain Development

One of the great mysteries in biology is how we humans ended up with such large, complex brains. In search of clues, researchers have spent years studying the protein-coding genes activated during...

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Latest on Omicron Variant and COVID-19 Vaccine Protection

Credit: Adapted from Pfizer, Dec. 8, 2021 There’s been great concern about the new Omicron variant of SARS-CoV-2, the coronavirus that causes COVID-19. A major reason is Omicron has accumulated over...

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