Feature Channels: Genetics

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The discovery of virus-like genes in the DNA of a commonly studied fruit fly could enable research on whether animals hijack viral genes as an anti-viral defense.

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Identifies 13 novel alterations in aggressive blood cancer.

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The College of American Pathologists (CAP) published a revised version of its molecular pathology checklist with a dedicated section on next generation sequencing (NGS) as part of the new edition of the CAP Laboratory Accreditation Program checklists released July 31, 2012. The CAP is the first to publish an accreditation checklist that addresses NGS, advancing standardized practice in genomic testing.

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Johns Hopkins researchers have discovered a new drug that may be useful in treating a heart rhythm condition called long QT syndrome. The study was published online on June 28 in the Early Edition of the Proceedings of the National Academy of Sciences.

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Researchers at the University of Utah Departments of Neurology and Human Genetics, in collaboration with researchers at Duke University Medical Center, have discovered that mutations in the ATP1A3 gene cause the disease in the majority of patients with a diagnosis of AHC.

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Researchers from the Massachusetts Eye and Ear Infirmary, The Children's Hospital of Philadelphia, Loyola University Chicago Health Sciences Division and their collaborators have isolated an elusive human gene that causes a common form of Leber congenital amaurosis (LCA), a relatively rare but devastating form of early-onset blindness. The new LCA gene is called NMNAT1. Finding the specific gene mutated in patients with LCA is the first step towards developing sight-saving gene therapy.

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Using a new assay method to study tumor cells, researchers at the University of California, San Diego School of Medicine and UC San Diego Moores Cancer Center have found evidence of clonal evolution in chronic lymphocytic leukemia (CLL). The assay method distinguishes features of leukemia cells that indicate whether the disease will be aggressive or slow-moving, a key factor in when and how patients are treated.

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Researchers at Columbia University Medical Center (CUMC) have discovered that some cases of glioblastoma, the most common and aggressive form of primary brain cancer, are caused by the fusion of two adjacent genes. The study also found that drugs that target the protein produced by this genetic aberration can dramatically slow the growth of glioblastomas in mice. The findings were published today in the online edition of the journal Science.

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Using comparisons of protein structure, researchers identified Actinobacteria as the base of the evolutionary tree. They will present their findings at the annual meeting of the American Crystallographic Association (ACA), held July 28 – Aug. 1 in Boston, Mass.

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Informatics researchers create an experimental framework for online, clinic-ready apps and ask others to embrace and expand it.

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By examining fruit flies at two different stages of their lives – youth and middle age -- a team of U.S. scientists has discovered important insights that explain why our ability to ward off infection declines with age. The findings are published in the July 2012 issue of the Genetics Society of America’s journal, GENETICS.

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A new study published in the July 11 issue of the Journal of Neuroscience details the development of the first mouse model engineered to carry the most common mutation in Usher syndrome III causative gene (Clarin-1) in North America.

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A new study sheds light on cholesterol and bile metabolism in the liver.

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Research teams from UTHealth and Paris, France have discovered a gene defect linked to a cluster of systemic complications, including life-threatening thoracic aortic disease and intracranial aneurysms.

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Genetics Society of America’s Model Organisms to Human Biology: Cancer Genetics meeting highlighted the role of pathways, gene regulatory networks, in the spread of cancer.

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Scientists at Arizona State University have discovered that honey bees may teach us about basic connections between taste perception and metabolic disorders in humans.

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Researchers at the University of California, San Diego – led by Gary S. Firestein, professor in the Division of Rheumatology, Allergy and Immunology at UC San Diego School of Medicine – investigated a mechanism usually implicated in cancer and in fetal development, called DNA methylation, in the progression of rheumatoid arthritis (RA). They found that epigenetic changes due to methylation play a key role in altering genes that could potentially contribute to inflammation and joint damage.

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The identification of key proteins in a group of heat-loving bacteria by researchers at the Department of Energy’s BioEnergy Science Center could help light a fire under next-generation biofuel production.

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High risk and better outcome for glioma wrapped up in rare gene variant.

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Researchers have identified genetic markers that may influence whether a person finishes high school and goes on to college, according to a national longitudinal study of thousands of young Americans. The study is in the July issue of Developmental Psychology, a publication of the American Psychological Association.