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Cartoon humans standing on a DNA profile.
Searching for the Rare Variants in a Genetic Haystack
Carola Vinuesa’s research has illuminated the genetics of lupus and helped to exonerate a mother falsely accused of murdering her four children. 
Searching for the Rare Variants in a Genetic Haystack
Searching for the Rare Variants in a Genetic Haystack

Carola Vinuesa’s research has illuminated the genetics of lupus and helped to exonerate a mother falsely accused of murdering her four children. 

Carola Vinuesa’s research has illuminated the genetics of lupus and helped to exonerate a mother falsely accused of murdering her four children. 

mutation

A fluorescent imaginal disc from <em >Drosophila&nbsp;</em>larvae on a black background.
Cancers with an Exceptional Cause
Kamal Nahas, PhD | Jul 18, 2024 | 4 min read
Epigenetic control of gene expression can switch on genes that push cell division into overdrive independently of genetic faults.
front view of a green grasshopper with a white and orange face.
Why Do Male Organisms Exist?
Hannah Thomasy, PhD | Mar 1, 2024 | 2 min read
Some species of lizards, grasshoppers, and crustaceans have adopted a ladies-only lifestyle.
The Mosaic Brain
Sejal Davla, PhD | 1 min read
How somatic mutations cause brain diseases
Illustration from the epigenetics and the genome infographic
Infographic: How Epigenetic Marks Can Change the Genome
Katarina Zimmer | Nov 1, 2022 | 2 min read
Although epigenetic changes were long thought to largely act on the genome, rather than as part of it, research is now showing that these patterns can, directly or indirectly, change the genetic code.
Cellular DNA and epigenetics
Do Epigenetic Changes Influence Evolution?
Katarina Zimmer | Nov 1, 2022 | 10+ min read
Evidence is mounting that epigenetic marks on DNA can influence future generations in a variety of ways. But how such phenomena might affect large-scale evolutionary processes is hotly debated.
The Scientist Speaks Ep. 16 - At the Breaking Point: Mitochondrial Deletions and the Brain
The Scientist | 1 min read
Researchers characterize large mitochondrial deletions to understand their implications in neurological disorders.
Pink- and purple-stained cells clustered into glands
Phenotypic Variation in Cancer Cells Often Not Due to Mutations
Jef Akst | Oct 26, 2022 | 3 min read
Most differences in gene expression among cells within a tumor are likely due to environment or noise, a study suggests. 
Illustration of people dying from the Black Death
Genes that Aided Black Death Survival Linked to Autoimmunity
Jef Akst | Oct 20, 2022 | 2 min read
A new study points to repercussions of the Medieval pandemic for the health of modern humans.
Mining Coding Regions with Whole-Exome Sequencing
The Scientist | 1 min read
Multiple next-generation sequencing (NGS) techniques offer insights into health and disease.
a black wolf and a gray wolf follow a third gray wolf, whose head is tilted back to watch, as they trot through a snowy background, with light colored, barren trees in the background.
Black and Gray Wolf Pairings Stem Disease, Stabilize Population: Study
Katherine Irving | Oct 20, 2022 | 4 min read
The black fur allele has fitness costs but also confers higher immunity against canine distemper virus, making mix-and-match mating key to population survival.
Illustration of SARS-CoV-2
US Agency to Look into Project on Modified Coronavirus
Catherine Offord | Oct 18, 2022 | 3 min read
The National Institute of Allergy and Infectious Diseases was not aware that the work involved a chimeric strain of SARS-CoV-2, STAT reports.
Illustration of pink and blue DNA molecules.
Historic Adaptations May Now Make Us Susceptible to Disease
Dan Robitzski | Sep 16, 2022 | 5 min read
Researchers made the find using an algorithm that purportedly distinguishes between mutations that were selected for and those that came along for the ride by coincidence, a feat that has long eluded scientists.
Illustration of a human and Neanderthal skull side by side.
Mutation Linked to Difference Between Human and Neanderthal Brains
Dan Robitzski | Sep 9, 2022 | 5 min read
A single amino acid substitution in a protein causes increased neuron production in the frontal lobes of humans compared to Neanderthals—a tiny difference that could have given our species a cognitive edge, researchers say.
Brown coral in shallow water branching upward with blue fish in front. 
Corals Upend Longstanding Idea About Genetic Inheritance
Natalia Mesa, PhD | Sep 1, 2022 | 4 min read
Most animals can’t pass on mutations that arise spontaneously throughout their lives—but Elkhorn corals can.
To flag neurons that have experienced genotoxic stress, researchers developed an in vivo sensor using an adeno-associated viral vector, called PRISM. Because a cell&rsquo;s DNA damage response (DDR)&mdash;which activates in response to stressors such as environmental toxins or the buildup of misfolded proteins&mdash;also responds to invading pathogens, PRISM has an easier time transfecting cells whose damage response mechanisms are preoccupied with existing DNA damage. Once inside, the virus hijacks the neuron&rsquo;s DNA replication machinery, which reverts an engineered frameshift mutation in the virus and thereby prompts the production of a fluorescent protein that can be observed via microscopy.
Infographic: DNA Damage Viewed with Unprecedented Clarity
Amanda Heidt | Aug 15, 2022 | 2 min read
A new genetic sensor called PRISM makes use of a host cell’s DNA replication machinery to trigger fluorescence in neurons with damaged DNA.
Broken DNA
DNA Damage Viewed with Unprecedented Clarity
Amanda Heidt | Aug 15, 2022 | 3 min read
A new tool called PRISM draws on virus-host interactions and a DNA repair pathway to help researchers visualize how cellular stress may contribute to neurodegenerative disease.
Artist’s rendition of a blue-green DNA double helix, viewed lengthwise from within one end.
Stem Cell Lines Riddled With Undetected Mutations
Dan Robitzski | Aug 12, 2022 | 4 min read
Most of the human induced pluripotent stem cells stored at major cell line repositories and used in research harbor thousands of DNA errors, a study finds, highlighting the need for improved quality control measures.
Artist&rsquo;s rendition of multiple <em>Neisseria gonorrhoeae</em>, the bacteria that causes gonorrhea, depicted as two spheres stuck together, each covered in tendrils.
Gonorrhea-Blocking Mutation Also Protects Against Alzheimer’s: Study
Holly Barker, PhD | Aug 5, 2022 | 4 min read
Research traces the evolution of a gene variant that reduces the risk of Alzheimer’s disease, finding that it originally evolved in response to infectious bacteria.
multicolor DNA sequencing gel
Genetic Mutations Can Be Benign or Cancerous—a New Method to Differentiate Between Them Could Lead to Better Treatments
Ryan Layer, The Conversation | May 27, 2022 | 5 min read
Tumors contain thousands of genetic changes, but only a few are actually cancer-causing. A quicker way to identify these driver mutations could lead to more targeted cancer treatments.
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