Feature Channels: Genetics

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The National Human Genome Research Institute (NHGRI) of the National Institutes of Health today announced an $8 million, three-year grant to establish a Wisconsin Center of Excellence in Genomics Science. The new Center is a collaborative effort between the University of Wisconsin in Madison, The Medical College of Wisconsin, and Marquette University, and will be coordinated by the Medical College of Wisconsin.

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UCLA scientists have identified two chemicals that convince cells to ignore premature signals to stop producing important proteins. The findings could lead to new medications for genetic diseases, such as cancer and muscular dystrophy, that are sparked by missing proteins.

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A team of researchers from Thomas Jefferson University and the University of Delaware have received a grant from the Department of Defense to create a three-dimensional patient imaging system that will allow surgeons to view and touch selected organs and tissues prior to surgery.

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In a study published in the September 24th issue of Nature, an international team describes how they harnessed modern genomic technology to explore the ancient history of India, the world’s second most populous nation.

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A University of Oregon research team has found that evolution can never go backwards, because the paths to the genes once present in our ancestors are forever blocked. The findings come from the first rigorous study of reverse evolution at the molecular level.

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An international team, led by researchers from the University of California, San Diego School of Medicine and the National Eye Institute, has discovered gene variants for glaucoma in a black population. The finding could lead to future treatments or a cure for this disease, which leads to blindness in two million Americans each year.

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1) Data Mining to Redesign Critical Care Services; 2) Zebrafish Genetics; 3) Diabetes and Heart Damage — an iPS Cell Approach; 4) Brain Cancer: Angling for its Origins.

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Genes previously known to be essential to the coordinated, rhythmic electrical activity of cardiac muscle -- a healthy heartbeat -- have now also been found to play a key role in thyroid hormone (TH) biosynthesis, according to Weill Cornell Medical College researchers.

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More than seventy percent of people who contract Hepatitis C will live with the virus that causes it for the rest of their lives and some will develop serious liver disease including cancer. However, 30 to 40 percent of those infected somehow defeat the infection and get rid of the virus with no treatment. In this week’s Advanced Online Publication at Nature, Johns Hopkins researchers working as part of an international team report the discovery of the strongest genetic alteration associated with the ability to get rid of the infection.

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Using yeast genetics and a novel scheme to selectively remove a single protein from the cell division process called meiosis, a cell biologist at The Florida State University found that when a key molecular player known as Pds5 goes missing, chromosomes fail to segregate and pair up properly, and birth defects such as Down syndrome can result.

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Virginia Commonwealth University School of Medicine researchers have discovered a gene involved with the production of sperm that may contribute to male infertility and lead to new approaches to male contraception.

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Scientists have identified the main genetic switch that causes excessive mucus in the lungs, a discovery that one day could ease suffering for people with chronic lung disease or just those fighting the common cold. The discovery is reported in a study posted online Sept. 14 by the Journal of Clinical Investigation.

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Early research holds promise for new therapies and better prediction of patient outcomes.

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Every 16 minutes, an American commits suicide. It’s the 11th leading cause of death in this country, a fact being widely noted during National Suicide Prevention Week Sept. 6-12. And now researchers at the University of Alabama at Birmingham (UAB) are looking deep inside the brain for ways to determine the reasons people commit suicide – and identify those most likely to attempt it.

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Late blight caused the 19th century famine that sparked a wave of emigration from Ireland to the United States, but the disease has also infected tomatoes and potatoes this year. Potatoes, the world’s fourth-largest food crop, were raised on 65,500 acres in Wisconsin in 2007. If a potato field is not treated with pesticide, late blight can destroy the crop in a few days.

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An international research team has decoded the genome of the notorious organism that triggered the Irish potato famine in the mid-19th century and now threatens this season’s tomato and potato crops across much of the US. The study reveals an unusually large genome size — more than twice that of closely related species — and an extraordinary genome structure, which together appear to enable the rapid evolution of genes, particularly those involved in plant infection.

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Their discovery does not mean an end to ALS, but it could provide scientists with valuable clues as they search for a cure. It can’t come any too soon. Lead researcher Shuanglin Zhang started showing symptoms of the disease himself four years ago.

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How society sees people in terms of race might play a greater role than genetics when it comes to health disparities between different groups. The study by University of Florida researchers is the first to rigorously combine both socio-cultural and genetic data to simultaneously test the relative contributions of each to racial inequalities in health.

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A UNC study, which appears in the Sept. 9 issue of the Journal of the American Medical Association (JAMA), could lead to earlier detection and diagnosis of cystic fibrosis liver disease and better treatment options for the patients affected by the disease.

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An international team of scientists has identified two more genetic risk factors for Alzheimer's disease. The group, led by investigators from the School of Medicine at Cardiff in the United Kingdom and including scientists from Washington University School of Medicine in St. Louis, completed the largest genome-wide association study ever involving patients with Alzheimer's disease. The study pooled DNA samples from more than 19,000 older European and U.S. residents. Seven thousand had Alzheimer's disease, and the others had no clinical symptoms of the disorder.

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Researchers at the University of North Carolina at Chapel Hill School of Medicine have now discovered that establishing the neural wiring necessary to function normally depends on the ability of neurons to make finger-like projections of their membrane called filopodia.

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University of Michigan researchers have identified a gene that acts as a master switch to control obesity in mice. When the switch is turned off, even high-fat-diet mice remain thin.

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Researchers at the Mayo Clinic campus in Florida and their collaborators worldwide have discovered that a single gene promotes development of essential tremor in some patients and Parkinson’s disease in others. These are two common but distinct neurological disorders. Notably, patients with essential tremor shake when they move, and Parkinson’s disease patients shake when they are at rest.

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Johns Hopkins engineers have devised innovative computer software that can sift through hundreds of genetic mutations and highlight the DNA changes that are most likely to promote cancer.

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A team of researchers from The Wistar Institute have shown that a large non-coding RNA in mammals and yeast plays a central role in helping maintain telomeres, the tips of chromosomes that contain important genetic information and help regulate cell division. Since this RNA also facilitates the formation of DNA at telomeres—a process that can protect aging cells and destabilize tumor cells—manipulating its expression may be useful in treating cancer and other diseases.

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Addressing safety concerns related to potential gene therapies for Parkinson's disease, UF McKnight Brain Institute researchers have tested a gene transfer therapy in rats that can be inhibited with a common antibiotic.

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The National Institutes of Health (NIH) has awarded Albert Einstein College of Medicine of Yeshiva University a five-year, $11.2 million grant to study the impact of damage to DNA on aging and disease.

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University of Utah researchers used data from Portuguese water dogs – the breed of President Barack Obama’s dog Bo – to help find a gene that gives some dogs curly hair and others long, wavy hair.

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Scientists at the University of Virginia have identified a gene in cowpea (black-eyed pea) that confers resistance to attack from witchweed, a parasitic plant. This discovery will help researchers better understand how some plants can resist Striga, while others, such as corn and sorghum, are susceptible.

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A specific genetic region that has been increasingly identified as the strongest genetic link to psoriasis has an even more significant role in the chronic skin disease than has been suspected.

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Patients with a certain genetic variation who received the antiplatelet drug clopidogrel had a decreased platelet response to treatment and among those who had percutaneous coronary intervention (procedures such as balloon angioplasty or stent placement used to open narrowed coronary arteries) had an increased risk of having a cardiovascular event in the following year than patients who did not have this variant, according to a study in the August 26 issue of JAMA.

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Three Idaho researchers are recipients of the National Science Foundation's EUREKA Award and the youngest participants in the program's history. They will explore new approaches to gene therapies by using locked nucleic acids or LNAs as invaders to target specific sections of chromosomes.

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Dr. Eran Halperin of the International Computer Science Institute (ICSI) and Tel Aviv University, and colleagues at the University of California, Berkeley have developed software that protects the privacy of individuals in genome association studies.

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Researchers at the University of Michigan have discovered that targeting of a novel gene utilizing genetic and pharmacologic strategies was successful in treating pulmonary fibrosis in mice and will be developed for future testing in humans.

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Discovery of a deafness-causing gene defect in mice has helped identify a protein that protects sensory cells in the ear. The mutated gene fails to produce normal claudin-9 protein, which normally maintains the proper distribution of potassium in the inner ear. Researchers are screening for the gene in people.

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A study from the Center for Molecular Genetics at the University of California, San Diego School of Medicine shows that a gene called HPRT plays an important role in setting the program by which primitive or precursor cells decide to become normal nerve cells in the human brain.

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The Cedars-Sinai Medical Center’s Medical Genetics Institute and Department of Pathology and Laboratory Medicine will be the first to offer genetic screenings for four common inherited disorders within the Persian Jewish population.

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An international group of researchers is the first to show that common variations in a gene – previously shown to be associated with Retts Syndrome, autism, and mental retardation – are associated with differences in brain structure in both healthy individuals and patients with neurological and psychiatric disorders.

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Investigators at Burnham Institute for Medical Research and the University of Connecticut Health Center have gained new understanding of the role hyaluronic acid (HA) plays in skeletal growth, chondrocyte maturation and joint formation in developing limbs. Significantly, these discoveries were made using a novel mouse model in which the production of HA is blocked in a tissue-specific manner.

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Extra genomes appear, on average, to offer no benefit or disadvantage to plants, but still play a key role in the origin of new species, say scientists from Indiana University Bloomington and three other institutions in this week's Proceedings of the National Academy of Sciences.

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A genetic search using patients and mouse models has uncovered an unlikely gene involved in Dandy-Walker malformation, a common birth defect which causes mental retardation, motor delays and sometimes autism. This newly discovered function of the gene, which is never expressed in the brain, reveals a novel role for the skull in directing brain development.

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An international team of scientists, led by researchers at the University of California, San Diego School of Medicine, have discovered a connection between mutations in the INPP5E gene and ciliopathies. Their findings, which may lead to new therapies for these diseases, will appear in the online edition of Nature Genetics on August 9.

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Mary had a little lamb, but only once a year. However, Cornell Sheep Program researchers have discovered an unusual form of a gene that prompts ewes to breed out of season as well as conceive at younger ages and more frequently.

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Rather than sticking to a single DNA script, human brain cells harbor an astonishing genomic variability, according to scientists at the Salk Institute for Biological Studies. The findings, to be published in the Aug. 5, 2009, advance online edition of Nature, could help explain brain development and individuality, as well as lead to a better understanding of neurological disease.

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The structure of an entire HIV genome has been decoded for the first time by researchers at the University of North Carolina at Chapel Hill. The results have widespread implications for understanding the strategies that viruses, like the one that causes AIDS, use to infect humans.

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Frogs around the world are dying from a fungal pathogen perhaps because they don't realize they are sick. In a study conducted at the University of Idaho, scientists found that the immune system of the study's frog species failed to respond to the chytrid fungus known as Batrachochytrium dendrobatidis (Bd). In fact, it appears the fungal infection may actually suppress its victim's immune system.

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An international team of scientists and clinicians from the United States and Saudi Arabia are working to develop gene therapy for treating a rare, hereditary retinal disease. The therapy has been shown to restore lost vision in animal models of retinitis pigmentosa (RP). Their work is being funded in part by a $1.5 million grant from the Prince Salman Center for Disability Research in Saudi Arabia, where the recessive gene mutation that leads to the eye disease RP has been found in children from several families.

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Lymphoma and other cancers may occur when a delicate gene recombination process in antibody-making cells goes awry, according to preliminary studies in mice at the University of Michigan.

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Thousands of scientists and hundreds of software programmers studying the process by which RNA inside cells normally degrades may soon broaden their focus significantly.

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Traditional rice cultivation methods practiced in the isolated hillside farms of Thailand are helping preserve the genetic diversity of rice, one of the world's most important food crops, according to a new study by researchers at Washington University in St. Louis and Chiang Mai University in Thailand.