Feature Channels: Genetics

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Researchers have uncovered the genetics behind what makes some people susceptible to Takayasu arteritis.

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Scientists have identified new genetic mutations that can cause pulmonary arterial hypertension (PAH), a rare fatal disease characterized by high blood pressure in the lungs. The mutations, found in the gene KCNK3, appear to affect potassium channels in the pulmonary artery, a mechanism not previously linked to the condition. Cell culture studies showed that the mutations’ effects could be reversed with a drug compound known as a phospholipase inhibitor. The study was published today in the online edition of the New England Journal of Medicine.

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A researcher from the Perelman School of Medicine at the University of Pennsylvania and colleagues have identified the genetic mutation in Africans with HIV that puts them at a much higher risk for tuberculosis infections.

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The resistance to insulin seen in type 2 diabetics is caused partly by the lack of a protein that has not previously been associated with diabetes. This breakthrough could potentially help to prevent diabetes.

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Painstaking new analysis of the genetic sequence of the X chromosome—long perceived as the “female” counterpart to the male-associated Y chromosome—reveals that large portions of the X have evolved to play a specialized role in sperm production.

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Investigators at Massachusetts Eye and Ear have published the most thorough description of gene expression in the human retina reported to date.

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Genomic imprinting maintains a reserve pool of blood-forming stem cells in mouse bone marrow

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In Nature this week, Santa Fe Institute External Professor Andreas Wagner and University of Zurich colleague Aditya Barve, by simulating changes in an organism’s metabolism, show that most traits may emerge as non-crucial "exaptations" rather than as selection-advantageous adaptations.

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Several companies sell genetic testing directly to consumers, but little research has been done on how consumers experience such tests. Now, a study is providing insight into how a diverse sample of primary care patients experience genetic testing.

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Scientists at the National Cancer Institute (NCI) have generated a data set of cancer-specific genetic variations and are making these data available to the research community, according to a study published in Cancer Research, a journal of the American Association for Cancer Research.

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A set of proteins involved in the body’s natural defenses produces a large number of mutations in human DNA, according to a study led by researchers at the National Institutes of Health. The findings suggest that these naturally produced mutations are just as powerful as known cancer-causing agents in producing tumors.

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A Johns Hopkins study finds that healthy people who carry a genetic mutation for arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) are at much higher risk of developing the symptoms of the life-threatening heart disease if they participate in endurance sports and frequent exercise. The study also suggests that those carriers who significantly cut back on their exercise regimen may reduce their risk or delay the onset of symptoms.

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Mexican American children are experiencing substantial burdens of obesity, pre-diabetes, and other health problems which historically would have been expected to develop much later in life. The findings of a new study by Texas Biomed scientists in San Antonio argue for early screening and intervention to delay or avoid chronic health problems as these children age.

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Researchers from Boston University School of Medicine (BUSM) and George Washington University (GWU) have developed a method to rapidly identify pathogenic species and strains causing illnesses, such as pneumonia, that could help lead to earlier detection of disease outbreaks and pinpoint effective treatments more quickly.

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A female’s exposure to distress even before she conceives causes changes in the expression of a gene linked to the stress mechanism in the body — in the ovum and later in the brains of the offspring from when they are born, according to a new study on rats conducted by the University of Haifa.

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You are what you eat – and so are your offspring. And in the title bout featuring protein versus sugar, protein is the winner. That’s what a researcher at The University of Alabama in Huntsville (UAH) found while studying the fruit fly (Drosophila melanogaster) as part of a multi-institutional team.

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University of Chicago researchers have discovered the first human "bifunctional" gene--a single gene that creates a single mRNA transcript that codes for two different proteins, simultaneously. Their finding elucidates a previously unknown mechanism in our basic biology, and has potential to guide therapy for at least one neurological disease.

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Scientists found genetic variations that could be used to identify women who are most likely to benefit from a certain type of breast cancer prevention drug—and who should avoid it.

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Scientists from the Monell Center report the surprising finding that two proteins involved in oral taste detection also play a crucial role in sperm development. In addition, the human form of one protein is blocked by the lipid-lowering drug clofibrate, perhaps linking this and related compounds to the rising global incidence of human infertility.

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A new study by Valerie Hu, Ph.D., professor of biochemistry and molecular medicine at the George Washington University School of Medicine and Health Sciences, reports that RORA, a novel candidate gene for autism discovered by her group in a 2010 study, regulates a large number of other genes associated with autism.

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AACC is pleased to announce the addition of a late-breaking session, The Supreme Court Decision on Human Gene Patents and Its Implications, to its scientific program at the 2013 AACC Annual Meeting & Clinical Lab Expo in Houston.

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A protein first shown to function in the liver plays a crucial role in pregnancy in mice and has a key role in the human menstrual cycle, according to researchers at the University of Montreal.

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Canadian-led study will help scientists identify key genomic regions in canola, other food plants.

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New research from Johns Hopkins suggests that bits of genetic material from plants eaten by mice can NOT enter the bloodstream intact as previous research from another institution had indicated.

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A new UC San Francisco study highlights the potential importance of the vast majority of human DNA that lies outside of genes within the cell.

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Researchers at Boston University College of Health & Rehabilitation Sciences: Sargent College have identified a combinatorial therapeutic approach that has proven effective in treating muscular dystrophy in a mouse model.

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Resurrecting ancient proteins in the lab, researchers discover just two mutations set the stage for the evolution of modern hormone signaling.

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Gene mutations that cause cell signaling networks to go awry during embryonic development and lead to major birth defects may also cause subtle disruptions in the brain that contribute to psychiatric disorders such as schizophrenia, autism, and bipolar disorder, according to new research by UC San Francisco scientists.

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Eleanor Saffian decided to pursue a career as a genetic counselor when her brother Charlie was diagnosed with Down syndrome shortly after birth. Currently a rising senior, Saffian studies genetics at Wake Forest and is interning at the Massachusetts General Hospital's Down Syndrome Program in Boston this summer.

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Scientists led by a UCSF neurology researcher are reporting that they have identified the likely genetic mechanism that causes some patients with multiple sclerosis (MS) to quickly progress to a debilitating stage of the disease while other patients progress much more slowly.

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The cover story in the June issue of Genetics describes a new technique allowing scientists to study the function of individual proteins in individual cell types in a living organism, providing deeper insights into protein function by isolating its function. Until now there was no tool for this.

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In a study published in the June 19 online edition of the journal Nature, a scientific team led by researchers from the University of California, San Diego School of Medicine visually monitored the dynamic cellular events that take place when cardiac regeneration occurs in zebrafish after cardiac ventricular injury. Their findings provide evidence that various cell lines in the heart are more plastic, or capable of transformation into new cell types, than previously thought.

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Live expert panel discussion today, June 19, 2013, from 3-4 p.m. EDT on Supreme Court Ruling on gene patents.

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Researchers at Moffitt Cancer Center and colleagues at Louisiana State University have developed a method for identifying aggressive prostate cancers that require immediate therapy. It relies on understanding the genetic interaction between single nucleotide polymorphisms (SNPs). The goal is to better predict a prostate cancer’s aggressiveness to avoid unnecessary radical treatment.

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A Cornell University study offers further proof that the divergence of humans from chimpanzees some 4 million to 6 million years ago was profoundly influenced by mutations to DNA sequences that play roles in turning genes on and off.

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The Smithsonian’s National Museum of Natural History, in partnership with the National Human Genome Research Institute of the National Institutes of Health, recently opened “Genome: Unlocking Life’s Code”—a multimedia exhibition that explores how the genomic revolution is influencing people’s lives and the extraordinary impact it is having on science, medicine and nature.

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Similar genetic variations occur in both overweight newborns and obese adults, a large study finds. The results will be presented Tuesday at The Endocrine Society’s 95th Annual Meeting in San Francisco.

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Aspirin is known to lower risk for some cancers, and a new study led by a UC San Francisco scientist points to a possible explanation, with the discovery that aspirin slows the accumulation of DNA mutations in abnormal cells in at least one pre-cancerous condition.

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Thursday’s Supreme Court ruling that human genes cannot be patented is a major victory for patients.

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The Supreme Court ruled Thursday that human genes may not be patented. The University of Michigan has several experts available to comment on the implications of the ruling.

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AMP applauds the U.S. Supreme Court on their ground breaking, unanimous decision.

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In the Association for Molecular Pathology v. Myriad Genetics decision, the Supreme Court unanimously held that naturally occurring DNA sequences are “products of nature” and therefore cannot be patented.

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College of American Pathologists applauds U.S. Supreme Court ruling on gene patents.

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Jeffrey Rosenfeld, Ph.D., at the UMDNJ-New Jersey Medical School published research in March on gene patents and an op-ed in the Washington Post arguing against the the patenting of human genes.

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Newly discovered genetic variations may help predict breast cancer risk in women who receive preventive breast cancer therapy with the selective estrogen receptor modulator drugs tamoxifen and raloxifene, a Mayo Clinic-led study has found. The study is published in the journal Cancer Discovery.

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Researchers at Case Western Reserve University have found that a single gene poses a double threat to disease: Not only does it inhibit the growth and spread of breast tumors, but it also makes hearts healthier.

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Many plants are self-fertilizing, meaning they act as both mother and father to their own seeds. This strategy – known as selfing – guarantees reproduction but, over time, leads to reduced diversity and the accumulation of harmful mutations. A new study published in the scientific journal Nature Genetics shows that these negative consequences are apparent across a selfing plant’s genome, and can arise more rapidly than previously thought.