Feature Channels: Genetics

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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.

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In the race for faster, cheaper ways to read human genomes, Pacific Biosciences is hoping to set a new benchmark with technology that watches DNA being copied in real time. The device is being developed to sequence DNA at speeds 20,000 times faster than second-generation sequencers currently on the market and will ultimately have a price tag of $100 per genome.

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Evidence buried in the chromosomes of animals and plants strongly suggests only one group -- mammals -- have seen their genomes shrink after the dinosaurs' extinction. What's more, that trend continues today, say Indiana University Bloomington scientists in the first issue of a new journal, Genome Biology and Evolution.

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Switching off a key DNA repair system in the developing nervous system is linked to smaller brain size as well as problems in brain structures vital to movement, memory and emotion, according to new research led by St. Jude Children's Research Hospital scientists.

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University of Utah researchers and their colleagues have identified the gene that is mutated in a hereditary form of a rare neuroendocrine tumor called paraganglioma (PGL). The gene, called hSDH5, is required for activation of an enzyme complex that plays a critical role in the chemical reactions that take place within cells to convert biochemical energy into usable energy.

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Current electronic health records (EHRs) have a long way to go to meet the challenges of genetic/genomic medicine, reports a study in the July issue of Genetics in Medicine, the official peer-reviewed journal of The American College of Medical Genetics.

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University of North Carolina at Chapel Hill School of Medicine scientists have found what may be the most efficient way to deliver a corrected gene to lung cells collected from cystic fibrosis patients.

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UCLA researchers have discovered the first genetic link to placebo: they report that in people suffering from Major Depressive Disorder, genes that influence the brain's reward pathways may modulate the response to placebos.

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Researchers at the University of Rochester Medical Center have found a way to block the genetic flaw at the heart of a common form of muscular dystrophy. The results of the study, which were published today in the journal Science, could pave the way for new therapies that essentially reverse the symptoms of the disease.

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Genetics researchers have unveiled a powerful new resource for scientists and health providers studying human illnesses--a reference standard of deletions and duplications of DNA found in the human genome. Drawn from over 2,000 healthy persons, the study provides one of the deepest and broadest sets of copy number variations available to date, along with a new research tool for rapid diagnosis.

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Researchers from the UT Health Science Center San Antonio and other institutions crack the genetic code of Schistosoma mansoni, a flatworm that can live up to 10 years on average in humans. The parasite is endemic in many tropical areas of the world.

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Research by a group of Montreal scientists calls into question one of the most basic assumptions of human genetics: that when it comes to DNA, every cell in the body is essentially identical to every other cell. Their results appear in the July issue of the journal Human Mutation.

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With the advent of high-throughput DNA sequencing technologies, it is now possible to cheaply and rapidly sequence hundreds of millions of bases in a matter of hours. A team of scientists have developed molecular and computational tools for the efficient and accurate identification of gene-enriched SNPs in crops.

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A Baylor University researcher has found a set of genes that modulates stress responses that could cause some people to take drugs, specifically alcohol consumption.

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A Tufts University research team has created an experimental model that produces large-scale expansion of GAA repeats during DNA replication, which is the cause of Friedreich's Ataxia. With this model, the researchers are able to analyze GAA repeat expansions and then identify cellular proteins that thwarted normal replication and promoted the elongated sequence.

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Mayo Clinic researchers and colleagues at the University of California San Francisco (UCSF) have found a connection between DNA alterations on human chromosome 9 and aggressive brain cancer known as glioblastoma.

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A new UNC study appearing online July 1 in the journal Nature disputes current scientific belief by showing that X-inactivation can occur even in the absence of a gene previously thought to be the trigger of the process.

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The finding suggests that schizophrenia is much more complex than previously thought and can arise not only from both rare genetic variants but also from a significant number of common ones.

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An analysis of the association between genetic variations of the inflammation biomarker C-reactive protein (CRP) with coronary heart disease failed to support a causal association, according to a study in the July 1 issue of JAMA.

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Joint Genome Institute to sequence the genomes of four species of labyrinthulomycetes.

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More pieces in the complex autism inheritance puzzle are emerging in the latest gene study of autism spectrum disorders (ASDs). This study identified 27 different genetic regions where rare copy number variations "“ missing or extra copies of DNA segments "“ occurred in the genes of children with ASDs, but not in healthy controls.

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More pieces in the complex autism inheritance puzzle are emerging in the latest study from a research team including geneticists from the University of Pennsylvania School of Medicine, The Children's Hospital of Philadelphia (CHOP), and several collaborating institutions.

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It is now possible to engineer tiny containers the size of a virus to deliver drugs and other materials with almost 100 percent efficiency to targeted cells in the bloodstream. According to a new Cornell study, the technique could one day be used to deliver vaccines, drugs or genetic material to treat cancer and blood and immunological disorders. (Gene Therapy online, June 25, 2009.)

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Pediatric researchers have identified hundreds of gene variations that occur more frequently in children with attention-deficit hyperactivity disorder than in children without ADHD. Many of those genes were already known to be important for learning, behavior, brain function and neurodevelopment. This is the first study to investigate the role of copy number variations in ADHD.

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Having partnered last year with an international team that surveyed the genomes of 12,000 individuals to find a genetic cause for gout, Johns Hopkins scientists now have shown that the malfunctioning gene they helped uncover can lead to high concentrations of blood urate that forms crystals in joint tissue, causing inflammation and pain "” the hallmark of this disease.

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There is insufficient evidence to conclude that genetic testing for two gene mutations in adults with a history of blood clots helps to prevent deep-vein thrombosis.

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Researchers at the Johns Hopkins School of Medicine have successfully edited the genome of human- induced pluripotent stem cells, making possible the future development of patient-specific stem cell therapies. Reporting this week in Cell Stem Cell, the team altered a gene responsible for causing the rare blood disease paroxysmal nocturnal hemoglobinuria, or PNH, establishing for the first time a useful system to learn more about the disease.

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Researchers at the University of Virginia Health System have found a new way to study how genes function in living organisms, and their approach could substantially cut the time and costs that drug makers spend in searching for potential targets for new cancer therapies.

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In pubic comments given today before the Secretary of Health and Human Services Advisory Committee on Genetics, Health and Society (SACGHS), the Association for Molecular Pathology (AMP) addressed three areas: Comparative Effectiveness Research (CER), evidence for coverage of genetic and genomic tests, and gene patents.

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It was long believed that conception doesn't involve a meeting of equals. The egg is a relatively large biological factory compared with the tiny sperm. However, a new study from Huntsman Cancer Institute at the University of Utah reveals that the father's sperm delivers much more complex genetic material than previously thought. The findings could lead to a test to help couples deal with infertility.

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Jumping genes do most of their jumping, not during the development of sperm and egg cells, but during the development of the embryo itself. The research challenges standard assumptions on the timing of when mobile DNA, so-called jumping genes, insert into the human genome.