Genomic

Novel bacteriophage offers a promising biocontrol solution against foodborne Salmonella

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Researchers from China have identified a novel bacteriophage that offers a highly promising “green” biocontrol solution against foodborne Salmonella. The study was published in Applied and Environmental Microbiology, a journal of the American Society for Microbiology. This study was conducted to address the severe challenges posed by antimicrobial-resistant Salmonella to global food safety and public … Read more

Genomic sequencing may expand newborn screening beyond biochemical tests

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Routine newborn screening (NBS) has transformed early disease detection. However, traditional biochemical tests limit the range of conditions that can be identified at birth. Next-generation sequencing is being explored as a complementary screening tool. A review published in Pediatric Investigation examines how next-generation sequencing could expand NBS from single-disease assays to genome-enabled, multi-disease screening approaches. … Read more

Predicting cancer behavior through splicing fingerprints

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Cancer is caused by faulty genes, but what also shapes a cancer cell’s behaviour is how a gene’s instructions are trimmed and rearranged before they are turned into the proteins that keep a cell alive. A study published in Nature Communications reveals a new way of measuring that editing process, known as splicing, directly. It … Read more

New review reveals complex polygenic architecture underlying common epilepsies

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An insightful mini-review published in Genomic Psychiatry synthesizes the rapidly expanding landscape of molecular genetic research on common epilepsies, assembling evidence from genome-wide association studies, whole-exome sequencing projects, and advanced statistical modeling to illuminate the polygenic architecture that underpins these heterogeneous neurological disorders. The synthesis, led by Dr. Olav B. Smeland of the Centre for … Read more

New review calls for biologically grounded approach to psychiatric diagnosis

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A comprehensive invited review published today in Brain Medicine confronts one of the most persistent paradoxes in modern medicine: psychiatry remains the only major clinical discipline that diagnoses complex illness primarily through conversation and symptom checklists, while fields such as oncology and cardiology long ago embraced laboratory markers, imaging, and molecular profiling. The review, authored … Read more

MSK uncovers how interacting mutations shield breast cancer

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Researchers at Memorial Sloan Kettering Cancer Center (MSK) have made an important discovery about how genetic mutations in breast cancer patients can interact and drive resistance to certain drugs called CDK4/6 inhibitors. This finding, published in Nature, suggests a new strategy for predicting and preventing resistance to specific therapies based on the tumor’s genetic profile.  This represents … Read more

New fragmentome technology can detect early liver fibrosis and cirrhosis

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Researchers at the Johns Hopkins Kimmel Cancer Center report that an artificial intelligence (AI)-based liquid biopsy test using genome-wide cell-free DNA (cfDNA) fragmentation patterns and repeat landscapes can detect early liver fibrosis and cirrhosis, and may also reveal signals of broader chronic disease burden. The research was supported in part by the National Institutes of Health, and … Read more

New research on two million people quantifies how genetic risks overlap across diagnoses

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A sweeping new peer-reviewed study published in Genomic Psychiatry has introduced a concept that could reshape how psychiatrists and geneticists think about mental illness: genetic specificity. Led by Dr. Kenneth S. Kendler at Virginia Commonwealth University, the research team analyzed data from over two million individuals born in Sweden between 1950 and 1995, asking a … Read more

Jumping DNA fragments found to destabilize cancer genome

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A study published today in the journal Science reveals how jumping fragments of human DNA, a type of genetic parasite, destabilise the cancer genome. Unstable genomes are a fertile playground for cancer evolution, giving malignant cells more opportunities to grow, adapt and evade treatment.  The researchers analyzed genome sequences from tumors with unusually high activity of LINE-1 … Read more

Next-generation sequencing expands possibilities for newborn screening

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Every year, millions of newborns undergo routine screening as a preventive strategy to detect inherited disorders before symptoms emerge. Newborn screening (NBS) programs have traditionally relied on biochemical markers to identify specific groups of treatable conditions, achieving remarkable success at a population level. However, as researchers increasingly uncover genetically driven diseases that manifest early in … Read more