Feature Channels: Genetics

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An estimated 300,000 U.S. patients get surgical site infections every year, and while the causes are varied, a new University of Utah study suggests that some who get an infection can blame it partly on their genes.

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One reporter tries out a genome sequencing machine that may revolutionize medicine.

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A healthy lung has some capacity to regenerate itself like the liver. In COPD, these reparative mechanisms fail. HDAC therapies may be useful for COPD, as well as other airway diseases. The levels of HDAC2 expression and its activity are greatly reduced in COPD patients. Decreased HDAC activity may impair the ability of the lung epithelium to regenerate.

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Research conducted at Henry Ford Hospital shows that race and possibly genetics play a role in children’s sensitivity to developing allergies. Researchers found: • African-American children were sensitized to at least one food allergen three times more often than Caucasian children. • African-American children with one allergic parent were sensitized to an environmental allergen twice as often as African-American children without an allergic parent.

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An international research team co-led by cancer prevention researcher Ulrike “Riki” Peters, Ph.D., M.P.H., and biostatistician Li Hsu, Ph.D., at Fred Hutchinson Cancer Research Center has identified variations in four genes that are linked to an increased risk of colorectal cancer. Peters and colleagues from 40 institutes throughout the world published their findings online ahead of the April print issue of Gastroenterology.

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DNA preserved in calcified bacteria on the teeth of ancient human skeletons has shed light on the health consequences of the evolving diet and behaviour from the Stone Age to the modern day.

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Study identifies regions of genes linked to Behçet’s, a poorly understood condition that causes painful and serious symptoms, including ulcers and brain inflammation

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In a study of mice, researchers at Johns Hopkins have identified a new molecular pathway involved in the growth of tiny air sacs called alveoli that are crucial for breathing. The scientists say their experiments may lead to the first successful treatments to regrow the air sacs in people who suffer from diseases such as emphysema in which the air sacs have been destroyed by years of smoking. The work may also suggest new therapy for premature infants born before their lungs are fully developed.

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A search for long-lived balancing selection has found at least six regions of the genome where humans and chimpanzees share a combination of genetic variants. These human genetic variation dates back to a common ancestor with chimpanzees millions of years ago, before the species split.

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Scientists have known for nearly a century that cold-blooded animals, such as worms, flies and fish all live longer in cold environments, but have not known exactly why.

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Researchers found that epigenetic regulation is key to distinguishing one caste of carpenter ants, the “majors”, as brawny Amazons of the colony, compared to the “minors”, their smaller, brainier sisters. The two castes have the same genes, but strikingly distinct behaviors and shape.

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Research published in the journal GENETICS shows that marrying genome-wide and proteome-wide screening helps determine susceptibility in a wide variety of diseases.

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In the journal GENETICS, NIH researchers review research on dog cranium development, suggest future research and how it may inform human skull development.

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Researchers have found a genetic variant that doubles the likelihood that people will have calcium deposits on their aortic valve. Such calcification, if it becomes severe, can cause narrowing or a blockage of the aortic valve, a condition called aortic stenosis. The study is the first large-scale, genome-wide association study to uncover a genetic link to aortic valve calcification. An article detailing the findings is published in the February 7, 2013 issue of The New England Journal of Medicine.

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A team of biologists from Indiana University and Brown University believes it has discovered the mechanism by which interacting mutations in mitochondrial and nuclear DNA produce an incompatible genotype that reduces reproductive fitness and delays development in fruit flies.

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By broadly comparing the DNA of children to that of elderly people, gene researchers have identified copy number variations that influence lifespan, either by raising disease risk or by providing protection from disease.

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Research from Whitehead Institute shows that transcription at the active promoters of protein-coding genes commonly runs in opposite directions. This leads to coordinated production of both protein-coding messenger RNAs (mRNAs) and long noncoding RNAs (lncRNAs).

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Researchers found a key determinant in the balance between two proteins, BRCA1 and 53BP1, in DNA repair machinery. Breast and ovarian cancer are associated with a breakdown in the repair systems involving these proteins.

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After an intensive three-year hunt through the genome, medical researchers have pinpointed mutations that leads to drug resistance and relapse in the most common type of childhood cancer—the first time anyone has linked the disease’s reemergence to specific genetic anomalies.

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Autism spectrum disorders affect nearly 1 in 88 children, with symptoms ranging from mild personality traits to severe intellectual disability and seizures. New work to examine which genes are responsible for autism disorders will be presented at the 57th Annual Meeting of the Biophysical Society (BPS), held Feb. 2-6, 2013, in Philadelphia, Pa.

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University of Utah researchers decoded the genetic blueprint of the rock pigeon, unlocking secrets about pigeons’ Middle East origins, feral pigeons’ kinship with escaped racing birds, and how mutations give pigeons traits like a fancy feather hairdo known as a head crest.

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A new study, to be published in the Feb. 7, 2013 issue of the American Journal of Human Genetics, expands and deepens the biological and genetic links between cardiovascular disease and schizophrenia. Cardiovascular disease is the leading cause of premature death among schizophrenia patients, who die from heart and blood vessel disorders at a rate double that of persons without the mental disorder.

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Genetic analysis by Stowers investigators has implications for a genetic disorder known as Hirschsprung Syndrome.

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New ancient DNA research show Aztec empire altered genetics of the Otomí inhabitants of Xaltocan. It is the first study to provide genetic evidence for the anthropological cold case.

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A novel genetic test can help identify small but aggressive lung tumors associated with poor survival, according to a study released today at the 49th Annual Meeting of The Society of Thoracic Surgeons held at the Los Angeles Convention Center.

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A scientific team has expanded next-generation sequencing to create an off-the-shelf tool that does simultaneous whole-exome analysis of both nuclear and mitochondrial DNA. The test will aid genetic diagnosis of these complex disorders.

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Researchers at the University of Michigan Comprehensive Cancer Center have developed a technique to better understand why RNA may be different in cancer cells than in normal cells. The technique will bring new depth of understanding to tests that sequence a tumor's entire genome.

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Vanderbilt biochemists have discovered that the process bacteria undergo when they become drug resistant can act as a powerful tool for drug discovery.

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Healthy men and women show little difference in their hearts, except for small electrocardiographic disparities. But new genetic differences found by Washington University in St. Louis researchers in hearts with disease could ultimately lead to personalized treatment of various heart ailments.

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Genome sequencing data once regarded as junk is now being used to gain important clues to help understand disease. The latest example comes from the St. Jude Children’s Research Hospital – Washington University Pediatric Cancer Genome Project, where scientists have developed an approach to mine the repetitive segments of DNA at the ends of chromosomes for insights into cancer.

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In a genome-wide analysis of 13 metastatic prostate cancers, scientists at the Johns Hopkins Kimmel Cancer Center found consistent epigenetic “signatures” across all metastatic tumors in each patient. The discovery of the stable, epigenetic “marks” that sit on the nuclear DNA of cancer cells and alter gene expression, defies a prevailing belief that the marks vary so much within each individual’s widespread cancers that they have little or no value as targets for therapy or as biomarkers for treatment response and predicting disease severity.

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A novel software tool streamlines the detection of disease-causing CNVs through more sensitive detection methods and by automatically correcting for variations that reduce the accuracy of results in conventional software.

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MU scientists Dongsheng Duan, PhD, and Yi Lai, PhD, identified a sequence in the dystrophin gene that is essential for helping muscle tissues function, a breakthrough discovery that could lead to treatments for the deadly hereditary disease. The MU researchers “found the proverbial needle in a haystack,” according to Scott Harper, PhD, a muscular dystrophy expert at The Ohio State University who is not involved in the study.

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Large-scale genomic sequencing has revealed two DNA mutations that appear to drive about 15 percent of meningiomas report Dana-Farber Cancer Institute and Broad Institute scientists. Experimental drugs that inhibit these mutant gene pathways are in clinical trials and have shown promising activity.

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Scientists have identified genetic circumstances under which common mutations on two genes interact in the presence of cocaine to produce a nearly eight-fold increased risk of death as a result of abusing the drug.

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Johns Hopkins researchers have identified a rare gene mutation in a single family with a high rate of schizophrenia, adding to evidence that abnormal genes play a role in the development of the disease.

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In one of the first genome-wide studies to hunt for both genes and their regulatory “tags” in patients suffering from a common disease, researchers have found a clear role for the tags in mediating genetic risk for rheumatoid arthritis (RA). The scientists say they were able to spot tagged DNA sequences that may be important for the development of RA.

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Research led by St. Jude Children’s Research Hospital scientists has identified a possible lead in treatment of two childhood leukemia subtypes known for their dramatic loss of chromosomes and poor treatment outcomes.

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Using only a computer, an Internet connection, and publicly accessible online resources, a team of Whitehead Institute researchers has been able to identify nearly 50 individuals who had submitted personal genetic material as participants in genomic studies.

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In each cell, thousands of regulatory regions control which genes are active at any time. Scientists at the Institute of Molecular Pathology (IMP) in Vienna developed a method that reliably detects these regions and measures their activity. The new technology is published online by Science this week.

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Melanomas that develop in the eye often are fatal. Now, scientists at Washington University School of Medicine in St. Louis report they have identified a mutated gene in melanoma tumors of the eye that appears to predict a good outcome.

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A research team led by Arkady Mustaev, PhD, of the Public Health Research Institute (PHRI) at the University of Medicine and Dentistry of New Jersey-New Jersey Medical School, has published a study posted online by the Journal of Biological Chemistry, that describes an effort by the investigators to understand the underlying mechanisms of high precision (fidelity) of RNA synthesis by RNA polymerase, the major enzyme that promotes the transcription process. They attempted to influence the role of active center tuning (ACT) –- a mechanism they first identified -- in the process of transcription fidelity, which is the accurate copying of genetic information.

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By looking at the entire DNA from this one patient’s tumor, researchers have found a genetic anomaly that provides an important clue to improving how a rare type of cancer is diagnosed and treated.

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University of Utah (the U) researchers, in collaboration with several groups from around the country, published a paper on Monday, Jan. 14, 2013, following one of the biggest studies of its kind, that extends our understanding of genes related to autism spectrum diseases (ASDs) and advances methods for early detection and treatment.

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Genetics researchers have identified 25 copy number variations (CNVs) that occur in some patients with autism. While individually rare, these CNVs are “high impact,” strongly increasing a person's autism risk.

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Scientists at the UI and BYU have identified a gene that induces drug resistance in cancer. The finding could improve prognostic and diagnostic tools for evaluating cancer and monitoring response to treatment, and could lead to new therapies for eradicating drug-resistant cancer cells.

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Penn researchers have been studying the epigenetics enzyme HDAC3 for several years. They discovered that its activity requires interaction with a specific region on another protein called the Deacetylase Activating Domain. This “nuts and bolts” discovery on the epigenetic control of a person’s genome has implications for cancer and neurological treatments.

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Scientists have discovered a gene that interferes with the clearance of hepatitis C virus infection. They also identified an inherited variant within this gene, Interferon Lambda 4 (IFNL4), that predicts how people respond to treatment for hepatitis C infection.