Tagged: genetics & genomics

CRISPR Corrects Duchenne-Causing Mutations

Researchers have been studying the CRISPR-Cas9 gene-editing system as a potential therapeutic tool to modify or delete pathogenic sequences within the human genome. Now, using a more recently discovered system, CRISPR-Cpf1, researchers have demonstrated...

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Should Healthy People Have Their Exomes Sequenced?

For people with no perceivable health issues but who are curious about some potential future ailments, there are now a handful of companies offering whole-genome or exome sequencing services to identify potential disease risks...

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Non-Chromosomal DNA Drives Tumor Evolution

Genetically, tumors are a mess. Individual tumor cells have a unique spectrum of mutations, and this heterogeneity is known to drive tumor evolution and resistance to cancer treatments. Now, in a study published today...

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Exome Study Reveals Novel Disease-Linked Alleles

In a unique twist on human genomics studies that seek to identify genetic variants linked to human disease, researchers have combined whole-exome sequencing of 50,726 adults with the individuals’ long-term electronic health record (EHR)...

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Phages Carry Antibiotic Resistance Genes

Viromes from a variety of environments harbor antibiotic resistance genes, according to a study published last month (November 24) in Environmental Pollution. The results suggest that bacteriophages—viruses that infect bacteria—may play a role in...

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Cellular Cartography

Over the next decade, researchers will compile a comprehensive and freely available map of the cells of the human body, complete with descriptions about their anatomy and function, according to a global initiative launched...

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Smoking-Linked Cancer Mutations Mapped

Researchers have uncovered the genomic mutations and DNA methylation patterns likely caused by tobacco smoke in 17 types of cancerous tumors. A comprehensive survey of mutations likely caused by carcinogens found in tobacco smoke...

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Targeting the Noncoding Genome with CRISPR

Demonstrating yet another basic research application of CRISPR, two teams have independently reported scaled up CRISPR interference (CRISPRi) and CRISPR/Cas9 noncoding genomic screens. Researchers at MIT and the Broad Institute of MIT and Harvard used...

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Toward a Shared Vision for Cancer Genomic Data

For the past 2 years, the National Cancer Institute (NCI), the University of Chicago, the Ontario Institute for Cancer Research, and Leidos Biomedical Research have been developing an information system called the NCI Genomic...

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Genetic Resilience

Most genomic studies to date have focused on linking mutations to diseases. Taking a new approach, researchers studying the genomes of apparently healthy individuals identified some people who seem to be resilient to severe...

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First Data from Anti-Aging Gene Therapy

Last year, Elizabeth Parrish, the CEO of Seattle-based biotech firm BioViva, hopped a plane to Colombia, where she received multiple injections of two experimental gene therapies her company had developed. One is intended to...

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Spoiler Alert

n the last decade or so, researchers have spent billions of dollars categorizing the microbes that populate sites as disparate as the human body, soil, and the oceans. Much of what we know about...

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CRISPRi-Controlled Gene Expression

A team of researchers at the Gladstone Institutes in San Francisco, California, has used a version of CRISPR gene editing known as CRISPR interference (CRISPRi) to reversibly and accurately suppress gene expression in induced pluripotent...

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Mutations Not Tied to Metastasis

Dozens of genetic mutations are known to facilitate cancer progression, but metastasis doesn’t appear to be controlled by additional changes to the genome. A study of hundreds of colorectal cancer patients published in Science...

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A Genetic Root to Seasonal Affective Disorder

In the depths of February, many people living in wintry northern climes find themselves bummed out and craving the sunny days of summer. Now, researchers at the University of California, San Francisco (UCSF), have...

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Aging Shrinks Chromosomes

In cells undergoing senescence, chromosomes tend to become more compact, according to a report published today (February 5) in Science Advances.This and other chromatin rearrangements noted in the report add to a growing understanding...

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Another Role for ApoE?

The allele apolipoprotein E ε4 (APOE ε4) is the greatest genetic risk factor for Alzheimer’s disease (AD), but the role of the ApoE4 protein in AD has long been elusive. Turns out, ApoE4 may...

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Sneeze O’Clock

If it’s seven o’clock on an August morning, I can pretty much guarantee you this is what’s going on at my house: I open my eyes, look out my bedroom windows at a lush...

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