Genomics
AI tool makes speedy gene editing possible
Researchers have designed an artificial intelligence (AI) program that may enable the production of customizable proteins called zinc fingers to treat diseases by turning genes on and off. The research published on January 26 in Nature Biotechnology may accelerate large-scale gene therapy development. Read More
DNA sequencing method offers peek into genomic black box
University of Cambridge researchers have outlined a new DNA sequencing method that detects where and how small molecule drugs interact with a targeted genome. The research, published on January 23 in Nature Biotechnology, allows precise mapping of drug-genome binding sites, potentially enabling the development of more effective medications. Read More
Improved tool for long-read RNA sequencing unveiled
Researchers at Children's Hospital of Philadelphia have developed a new, more accurate computational tool for long-read RNA sequencing. The tool, called Error Statistics Promoted Evaluator of Splice Site Options, described Friday in Science Advances, may allow for better diagnosis of rare genetic diseases caused by disrupted RNA and the discovery of potential therapeutic targets in disease. Read More
Newborn screening for neuromuscular disorder leads to improved outcomes in Australian study
Newborn screening for spinal muscular atrophy (SMA) improves outcomes by enabling timely access to disease-modifying therapy, a prospective study published in the Lancet Child & Adolescent Health found. Read More
T-cell therapy fights viral infections following stem cell transplants
Baylor College of Medicine and Washington University School of Medicine researchers studied posoleucel, an investigational off-the-shelf T-cell therapy that simultaneously targets six different viruses. The results, published January 11 in the journal Clinical Cancer Research, showed promising antiviral efficacy and safety in a phase II clinical trial of patients who had undergone stem cell transplantation to treat blood diseases including cancer. Read More
New approach puts genotype first
NIH researchers have published an assessment of 13 studies that took a genotype-first approach to patient care, in contrast to the more typical phenotype-first approach, which begins with clinical findings. The study, published January 5 in the journal American Journal of Human Genetics, demonstrated that a genotype-first approach can help identify people with uncommon disorders who might otherwise escape clinical attention. Read More
Discovery of destructive CRISPR enzyme opens diagnostic, therapeutic applications for molecular scissors
The discovery of a CRISPR enzyme that destroys DNA and RNA in target cells has unlocked opportunities to use molecular scissors in diagnostics and to selectively destroy diseased cells. Read More
Cancer-killing vaccine may also prevent brain cancer
Harvard Stem Cell Institute scientists are harnessing a new method of turning cancer cells into potent, anti-cancer agents. Their new cell therapy approach to eliminating established tumors also trains the immune system to prevent cancer from recurring, providing long-term immunity. The NIH-funded study, published January 4 in Science Translational Medicine, showed promising results when the approach was tested on mice with glioblastoma, a deadly brain cancer. Read More
Prenetics acquiring majority stake in ACT Genomics, expanding position in cancer genetics, precision oncology
Hong Kong-based Prenetics Global, a genomics and diagnostic testing firm, on Friday announced that it is acquiring a majority stake in Taiwan-based precision oncology firm ACT Genomics. Read More
Common genetic cause of late-onset ataxia revealed
A Quebec-led international collaboration has discovered a previously unknown common genetic cause of late-onset cerebellar ataxia. The study, published December 14 in the New England Journal of Medicine, may potentially improve diagnosis and open new treatment avenues for thousands of people with this debilitating neurodegenerative condition worldwide. Read More
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