Feature Channels: Genetics

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Cancer tumors almost never share the exact same genetic mutations, a fact that has confounded scientific efforts to better categorize cancer types and develop more targeted, effective treatments. Researchers at the University of California, San Diego propose a new approach called network-based stratification, which identifies cancer subtypes not by the singular mutations of individual patients, but by how those mutations affect shared genetic networks or systems.

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• A genetic variant on chromosome 2 is linked with kidney failure in women with type 1 diabetes but not in men. • Diabetic women with the risk variant had a nearly two-fold increased risk of developing kidney failure compared with diabetic women who did not have the risk variant.

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More than 5,000 genetic profiles of tumor DNA have been completed in a large research study by scientists at Dana-Farber Cancer Institute, Brigham and Women’s Hospital, and Boston Children’s Hospital designed to speed the development of personalized cancer care with precision treatments.

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We often think of human cells as tiny computers that perform assigned tasks, where disease is a result of a malfunction. But in the current issue of Science, researchers at The Mount Sinai Medical Center offer a radical view of health — seeing it more as a cooperative state among cells, while they see disease as result of cells at war that fight with each other for domination.

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10 ways the human genome can affect diagnosis and treatment in health.

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How and why fish swim in schools has long fascinated biologists looking for clues to understand the complexities of social behavior. A new study by a team of researchers at Fred Hutchinson Cancer Research Center may help provide some insight.

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Researchers have discovered the details of how cells repair breaks in both strands of DNA, a potentially devastating kind of DNA damage.

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Case Western Reserve University is part of a landmark study that has discovered four novel gene variations associated with blood pressure.

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Researchers have discovered the first inherited gene mutation linked exclusively to acute lymphoblastic leukemia (ALL) occurring in multiple relatives in individual families.

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A team of University of Montreal and McGill University researchers have devised a method to identify how signaling molecules orchestrate the sequential steps in cell division.

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Behavioral abnormalities are traditionally thought to originate in the brain. But a new study by researchers at Albert Einstein College of Medicine of Yeshiva University has found that inner-ear dysfunction can directly cause neurological changes that increase hyperactivity.

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Ground-breaking new research from a team of evolutionary biologists at Indiana University shows for the first time how asexual lineages of a species are doomed not necessarily from a long, slow accumulation of new mutations, but rather from fast-paced gene conversion processes that simply unmask pre-existing deleterious recessive mutations.

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Darwin referred to the origin of species as "that mystery of mysteries," and even today, more than 150 years later, evolutionary biologists cannot fully explain how new animals and plants arise.

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By studying rare families in which a daughter shares the same Y chromosome as her father, Michael Weiss, MD, PhD, and his colleagues at the CWRU School of Medicine have determined that the pathway for male sexual development is not as consistent and robust as scientists have always assumed.

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A new study published today in Arthritis Research & Therapy provides the first genomic characterization of remission in juvenile rheumatoid arthritis patients.

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Researchers have identified a disease gene in which mutations cause rare but devastating genetic diseases known as mitochondrial disorders. Nine mutations of the gene were found in nine children in seven families, including three siblings from the same family.

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Whitehead Institute researchers have used the gene regulation system CRISPR/Cas (for “clustered regularly interspaced short palindromic repeat/CRISPR-associated) to engineer mouse genomes containing reporter and conditional alleles in one step. Animals containing such sophisticated engineered alleles can now be made in a matter of weeks rather than years and could be used to model diseases and study gene function.

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Scientists from the Florida campus of The Scripps Research Institute have shown that a well-known cancer-causing gene implicated in a number of malignancies plays a far more critical role in non-small cell lung cancer, the most common form of the disease, than previously thought.

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Researchers have created a model that may explain the complexities of the origins of life. Their work offers new insights into how RNA signaling likely developed into the modern “genetic code.”

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Researchers have tied mutations in a gene that causes amyotrophic lateral sclerosis (ALS) and other neurodegenerative disorders to the toxic buildup of certain proteins and related molecules in cells, including neurons.

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Joslin scientists, in collaboration with researchers from the Harvard School of Public Health and Italian research institutes, have identified a previously unknown genetic variant associated with an increased risk of coronary heart disease (CHD) in type 2 diabetic patients. This discovery has the potential to lead to the development of new treatments for CHD in diabetic patients.

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By creating a powerful new gene regulation system called CRISPR-on, Whitehead Institute researchers now have the ability to increase the expression of multiple genes simultaneously and precisely manipulate each gene’s expression level. The system is effective in both mouse and human cells as well as in mouse embryos.

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Scientists successfully crystallized a short RNA sequence, poly (rA)11, and used data collected at the Canadian Light Source (CLS) and the Cornell High Energy Synchrotron to confirm the hypothesis of a poly (rA) double-helix.

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Of the over 1,900 errors already reported in the gene responsible for cystic fibrosis (CF), it is unclear how many of them actually contribute to the inherited disease. Now a team of researchers reports significant headway in figuring out which mutations are benign and which are deleterious, accounting for 95 percent of the variations found in patients with CF.

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In an era of widespread genetic sequencing, the ability to edit and alter an organism’s DNA is a powerful way to explore the information within and how it guides biological function.

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A new study has revealed marked differences in the genomic terrain of the two most common types of cervical cancer, suggesting that patients might benefit from therapies geared to each type’s molecular idiosyncrasies.

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A statistical model accounting for dozens of different genes in combination—and the interactions between them—is an important step forward in understanding the genetic factors affecting the risk of Crohn's disease (CD), reports a study in Inflammatory Bowel Diseases, official journal of the Crohn's & Colitis Foundation of America (CCFA). The journal is published by Lippincott Williams & Wilkins, a part of Wolters Kluwer Health.

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Researchers from Beth Israel Deaconess Medical Center and Boston University School of Medicine find that the same genetic mutation responsible for red hair also promotes a well-known cancer-causing pathway

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High-risk pregnant women are being recruited for a clinical trial that aims to give parents detailed information about genetic abnormalities found with the latest prenatal genetic testing, known as microarray.

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By any measure, tuberculosis (TB) is a wildly successful pathogen. It infects as many as two billion people in every corner of the world, with a new infection of a human host estimated to occur every second.

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A rare, small RNA turns a gene-splicing machine into a switch that controls the expression of hundreds of human genes. Researchers have discovered an entirely new aspect of the gene-splicing process that produces messenger RNA.

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Part of the risk for alcohol dependence is genetic. The same is true for eating disorders. Now researchers at Washington University School of Medicine in St. Louis have found that some of the same genes likely are involved in both. They report that people with alcohol dependence may be more genetically susceptible to certain types of eating disorders and vice versa.

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Researchers have found and cloned a gene that prevents wheat from preharvest sprouting. The finding will to be most beneficial to white wheat production, which loses $1 billion annually.

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By directly altering the gene coding for the prion protein (PrP), Whitehead Institute researchers have created mouse models of two neurodegenerative prion diseases, each of which manifests in different regions of the brain. These new models for fatal familial insomnia (FFI) and Creutzfeldt-Jakob disease (CJD) accurately reflect the distinct patterns of destruction caused by the these diseases in humans. Remarkably, as different as each disease is, they both spontaneously generate infectious prions.

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Placentas support the fetus and mother, but those organs grow according to blueprints from dad, according to new research at Cornell University. The study, published in the Proceedings of the National Academy of Sciences in June, shows that the genes in a fetus that come from the father dominate in building the fetal side of the placenta.

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Research led by scientists from the University of California, San Diego has decoded the genetic basis of chronic mountain sickness (CMS) or Monge’s disease. Their study provides important information that validates the genetic basis of adaptation to high altitudes, and provides potential targets for CMS treatment.

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A multi-institutional team led by Dianna Milewicz, M.D., Ph.D., of The University of Texas Health Science Center at Houston (UTHealth) has found a recurrent genetic mutation that has been linked to deadly thoracic aortic dissections in family members as young as 17 years of age.

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A gene variant strongly associated with development of type 2 diabetes appears to interact with a Mediterranean diet pattern to prevent stroke, report researchers from Tufts University and from Spain. The results are a significant advance for nutrigenomics, the study of the linkages between nutrition and gene function.

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Researchers have probed deep into the cell’s genome, beyond the basic genetic code, to begin learning the “grammar” that helps determine whether or not a gene gets switched on to make the protein it encodes.

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Neurologists and epilepsy researchers from NYU Langone Medical Center were among scientists who have 329 random genetic mutations associated with two of the most severe forms of epilepsy, according to a paper published today in Nature. Though well-known that many forms of epilepsy are strongly influenced by genetics, there has been relatively little progress in identifying the genetic differences that contribute to most forms of epilepsy.

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A decade ago, gene expression seemed so straightforward: genes were either switched on or off. Not both. Then in 2006, a blockbuster finding reported that developmentally regulated genes in mouse embryonic stem cells can have marks associated with both active and repressed genes, and that such genes, which were referred to as “bivalently marked genes”, can be committed to one way or another during development and differentiation.

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Researchers have identified two new genes and implicated 25 distinct mutations in serious forms of epilepsy, suggesting a new direction for developing tailored treatments of the neurological disorders. The findings by an international research collaboration, which includes investigators from Duke Medicine, appear Aug. 11 in the journal Nature.

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Genomic sequencing experts at Johns Hopkins partnered with pharmacologists at Stony Brook University to reveal a striking mutational signature of upper urinary tract cancers caused by aristolochic acid, a plant compound contained in herbal remedies used for thousands of years to treat a variety of ailments such as arthritis, gout and inflammation. Their discovery is described in the Aug. 7 issue of Science Translational Medicine.

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Researchers at the University of California, San Diego School of Medicine offer an explanation for why we all don't get Alzheimer's disease (AD) - a trick of nature that in most people maintains critical separation between a protein and an enzyme that, when combined, trigger the progressive cell degeneration and death characteristic of AD.

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A collaborative team of researchers including scientists from UCLA has uncovered evidence that a specific genetic alteration appears to contribute to schizophrenia. They also found that schizophrenia shares a common biological pathway with Fragile X mental retardation syndrome.

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A study by Valentina Moskvina, Ph.D., of the Cardiff University School of Medicine, Wales, United Kingdom, and colleagues, examined the genetic overlap between Parkinson disease (PD) and Alzheimer disease (AD).

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An experimental treatment for alcohol dependence works better in individuals who possess specific combinations of genes that regulate the function and binding of serotonin, a brain chemical affected by the treatment, according to a study supported by the National Institutes of Health. A report of the finding appears online in the American Journal of Psychiatry.