Feature Channels: Genetics

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An international, open-label Phase 3 study, co-led by Susanna McColley, MD, from Ann & Robert H. Lurie Children’s Hospital of Chicago, found that a regimen of three drugs (elexacaftor/tezacaftor/ivacaftor) that targets the genetic cause of cystic fibrosis was safe and effective in 6-11-year-olds with at least one copy of F508del mutation in the CFTR gene, which is estimated to represent almost 90 percent of the cystic fibrosis population in the United States.

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The National Eye Institute (NEI) Data Commons now enables researchers to access data from patients with macular degeneration who participated in the Age-related Eye Disease Study 2 (AREDS2). The database complements newly available stem cell lines created by the New York Stem Cell Foundation Research Institute (NYSCF) from blood cells of AREDS2 study participants.

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The Hereditary Disease Foundation is hosting a free webinar “What’s It All About? Alfy and Aggregates” on Tuesday, March 23, 2021, from 12pm to 1pm ET. Dr. Ai Yamamoto, associate professor in the departments of Neurology and of Pathology and Cell Biology at Columbia University Vagelos College of Physicians and Surgeons and recipient of the 2020 Leslie Gehry Brenner Prize for Innovation in Science, will be the keynote speaker.

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Hertz Fellow David Schaffer uses high throughput genetic sequencing technology to identify gene variants that can potentially help restore sight, repair hearts damaged by Fabry disease, and improve lung function in patients with cystic fibrosis.

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A new research paper funded in part by the National Heart, Lung and Blood Institute (NHLBI) shows a clear advantage of genetic testing in helping health care providers choose the appropriate anti-platelet drug. Testing helps determine if a patient carries genetic variants in CYP2C19 that cause loss of its function. These variants interfere with the body's ability to metabolize and activate clopidogrel, an anti-platelet medication.

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Researchers have compiled a complete genetic and clinical analysis of more than 400 individuals with SCN2A-related disorder, which has been linked to a variety of neurodevelopmental disorders, including epilepsy and autism. By linking clinical features to genetic abnormalities in a standardized format, the researchers hope their findings lead to improved identification and clinical intervention.

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Hackensack Meridian Health and Genomic Testing Cooperative (GTC) in Irvine, California, have teamed up to establish the first-of-its-kind genomic profiling laboratory called Anthology Diagnostics, to generate more personalized, precise, and real-time insights for cancer patients, oncologists and hospitals.

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When news started circulating early last year about a virus in China that was spreading like wildfire, faculty researchers found themselves evaluating their projects and wondering how they could contribute their skills and knowledge to this global problem.

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A high rate of genetic mutations within a tumor, known as high tumor mutation burden, was only useful for predicting immunotherapy responses in a subset of cancer types, suggesting that this may not reliably be used as a universal biomarker.

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A new Penn State and Cornell study describes an effort to produce the most comprehensive and high-resolution map yet of chromosome architecture and gene regulation in yeast, a major step toward improving understanding of development, evolution and environmental responses in higher organisms.

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Wistar scientists identified a new function of ADAR1, a protein responsible for RNA editing, discovering that the ADAR1p110 isoform regulates genome stability at chromosome ends and is required for continued proliferation of cancer cells.

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Next generation sequencing is already starting to deliver on the promises of "precision medicine," according to a study in over 1,000 patients with advanced cancer.

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A new study from Washington University School of Medicine in St. Louis shows that whole genome sequencing is at least as accurate and often better than conventional genetic tests that help determine the treatment for a patient’s blood cancer. Genome sequencing technology continuously is decreasing in cost and recently reached a level similar to that of conventional testing.

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A collaborative study by Stony Brook University scientists, published in Nature Communications, takes an initial step toward better understanding how KRAS drives immune evasion and demonstrates a lowering of the KRAS activity resulting in a more favorable immune environment to fight cancer.

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A gene therapy for chronic pain could offer a safer, non-addictive alternative to opioids. Researchers at the University of California San Diego developed the new therapy, which works by temporarily repressing a gene involved in sensing pain. It increased pain tolerance in mice, lowered their sensitivity to pain and provided months of pain relief without causing numbness.

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The science behind the COVID-19 vaccine has the potential to do more than prevent cases of COVID-19 itself. In the coming years, it could also help doctors treat stubborn forms of cancer.

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In the first study of the genomic architecture of the human placenta, scientists at the Wellcome Sanger Institute, the University of Cambridge and their collaborators have confirmed that the normal structure of the placenta is different to any other human organ and resembles that of a tumour, harbouring many of the same genetic mutations found in childhood cancers.

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UT Southwestern scientists have identified key genes involved in brain waves that are pivotal for encoding memories. The findings, published online this week in Nature Neuroscience, could eventually be used to develop novel therapies for people with memory loss disorders such as Alzheimer’s disease and other forms of dementia.

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Combining computational mining of big data with experimental testing in the lab, researchers at Children’s Hospital of Philadelphia (CHOP) have identified RNA editing events that influence gene expression and, in turn, the phenotypic manifestation of that expression. In analyzing so-called A-to-I RNA editing, in which the adenosine of an RNA molecule is chemically modified into an inosine, the researchers describe how a single nucleotide change by RNA editing can have large downstream effects. The findings were published today in Genome Biology.