Feature Channels: Genetics

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Two distinct mutations cause “question mark ears syndrome,” study finds.

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Women who smoke and carry specific variations in the genes that impact their metabolism are at higher risk of developing hot flashes in comparison with smokers who do not carry these gene variants, according to a recent study accepted for publication in The Endocrine Society’s Journal of Clinical Endocrinology and Metabolism (JCEM).

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When you buy a racehorse, you pays your money and you takes your chances. Top yearlings at Keeneland’s 2011 Thoroughbred auction, for instance, averaged nearly $350,000 and hadn’t yet raced a step. Odds are that some of them never will. Now, thanks to a Binghamton University biologist, it’s possible to boost the odds of getting a winner with a simple genetic test.

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A team of Stowers scientists defines biochemical crosstalk between DNA interacting proteins and their modifications.

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Whitehead Institute researchers have created a three-step algorithm, lobSTR, that in one day accurately and simultaneously profiles more than 100,000 short tandem repeats (STRs) in one human genome sequence—a feat that previous systems could never complete.

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NYU biologists have discovered new mechanisms that control how proteins are expressed in different regions of embryos, while also shedding additional insight into how physical traits are arranged in body plans. Their findings call for reconsideration of a decades-old biological theory.

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A single gene that promotes initial development of the most common form of lung cancer and its lethal metastases has been identified by researchers at Mayo Clinic in Florida.

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Researchers at Oak Ridge National Laboratory and Yale University have developed a new concept for use in a high-speed genomic sequencing device that may have the potential to substantially drive down costs.

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St. Jude Children’s Research Hospital scientists have rewritten the job description of the protein TopBP1 after demonstrating that it guards early brain cells from DNA damage. Such damage might foreshadow later problems, including cancer.

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Researchers at Johns Hopkins have identified a gene that modifies the risk of newborns with cystic fibrosis (CF) developing neonatal intestinal obstruction, a potentially lethal complication of CF. Their findings, which appeared online March 15 in PlosGenetics, along with the findings of their Toronto-based colleagues, published April 1 in Nature Genetics, may lead to a better understanding of how the intestines work and pave the way for identifying genes involved in secondary complications of other disorders.

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Scientists led by Washington University School of Medicine in St. Louis have identified the first gene directly linked to the most common form of psoriasis, a chronic skin condition.

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A global team has mapped the human genes that boost or sabotage the brain’s resistance to a variety of mental illnesses and Alzheimer’s disease. The UCLA-launched study also uncovered new genes that explain individual differences in brain size and intelligence

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Through a groundbreaking new gene sequencing technology, researchers have demonstrated that the gene FLT3 is a valid therapeutic target in Acute Myeloid Leukemia, AML, one of the most common types of leukemia. The technique, developed by Pacific Biosciences, allows for the rapid and comprehensive detection of gene mutations in patients with AML. The findings, published online April 15 in Nature, are a result of collaboration among scientists at the University of California, San Francisco, Pacific Biosciences and Mount Sinai School of Medicine. The discovery may help lead to the development of new drugs to treat AML.

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The key to treating one of the most common types of human leukemia may lie within mutations in a gene called FLT3, according to new research led by physician-scientists at the University of California, San Francisco (UCSF) Helen Diller Family Comprehensive Cancer Center.

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An international consortium of researchers have identified a group of genes associated with the development of osteoporosis, a debilitating bone disease that cripples more than 10 million Americans a year and costs the U.S. healthcare system an estimated $17 billion annually. The study identified 56 genes associated with bone-mineral density (BMD), the measurement used to diagnose osteoporosis.

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One of the ultimate ways of understanding what impact any particular gene has in human health or disease is to disrupt it—knocking it down or wiping it out in a worm, fly or mouse and gauging what happens next.

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A UNC-led team of scientists finds that transcription factors don’t act like an ‘on-off’ switch, but instead can exhibit much more complex binding behavior.

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Research by psychologists at the University at Buffalo and the University of California, Irvine, has found that at least part of the reason some people are kind and generous is because their genes nudge them toward it.

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Discovery of Inherited-Genetic Variations May Help Assess a Patient's Risk of Life-Threatening Disease Before it Strikes

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While exercise is accepted universally as the most beneficial prescription physicians can write, little is known about the molecular mechanisms that generate its widespread health benefits. Case Western Reserve has shed light on this mystery by discovering that a genetic factor, KLF15, governs the body’s ability to burn fat during exercise.

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Research published in the Genetics Society of America’s journal GENETICS uses a new technique, surrogate organism genetics that “swapped” yeast genes with human genes sequenced from patients with homocystinuria to determine the gene variants likely to respond to vitamin B6 treatment.

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Genetics researchers have identified at least two new gene variants that increase the risk of common childhood obesity. The meta-analysis is the largest-ever genome-wide study of the common condition.

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Researchers from Mount Sinai School of Medicine have developed a method to derive enough DNA information from non-DNA sources—such as RNA—to clearly identify individuals whose biological data are stored in massive research repositories. The approach may raise questions regarding the ability to protect individual identity when high-dimensional data are collected for research purposes. A paper introducing the technique appears in the April 8 online edition of Nature Genetics.

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The discovery of a major gear in the biological clock that tells the body when to sleep and metabolize food may lead to new drugs to treat sleep problems and metabolic disorders, including diabetes.

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Mutations in three new genes have been linked to autism, according to new studies including one with investigators at Mount Sinai School of Medicine. The findings, in a trio of papers revealing new genetic targets in autism, are published in the April 4th online issue of the journal Nature. The studies provide new insights into important genetic changes and the many biological pathways that lead to autism spectrum disorders (ASD).

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Mutations in hundreds of genes involved in wiring the brain may contribute to the development of autism spectrum disorders (ASD). That is one of the rather daunting conclusions of a paper published in the current issue of the journal Nature by a multi-institutional team that included researchers at Vanderbilt University Medical Center.

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With sharp declines in the cost of whole genome sequencing, the day of accurately deciphering disease risk based on an individual’s genome may seem at hand. But a study involving data of thousands of identical twins by Johns Hopkins investigators finds that genomic fortune-telling fails to provide informative guidance to most people about their risk for most common diseases, and warns against complacency born of negative genome test results.

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UCLA scientists have linked two genes to a higher risk of developing post-traumatic stress disorder, or PTSD. The study suggests that PTSD susceptibility is inherited and could explain why some persons succumb to the disorder while others who suffered the same ordeal do not.

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The discovery by an international team of researchers offers the possibility of developing therapies to intervene in utero. Some of these genes may influence disease in other cystic fibrosis-affected organs.

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Scientists at Washington University School of Medicine in St. Louis are using powerful DNA sequencing technology not only to identify mutations at the root of a patient’s tumor – considered key to personalizing cancer treatment – but to map the genetic evolution of disease and monitor response to treatment.

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The first atlas of the surface of the human brain based upon genetic information has been produced by a national team of scientists, led by researchers at the University of California, San Diego School of Medicine and the VA San Diego Healthcare System. The work is published in the March 30 issue of the journal Science.

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Mutations in a gene called XRCC2 cause increased breast cancer risk, according to a study published today in the American Journal of Human Genetics. The study looked at families that have a history of the disease but do not have mutations in the currently known breast cancer susceptibility genes.

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Certain genes and proteins that promote growth and development of embryos also play a surprising role in sending chemical signals that help adults learn, remember, forget and perhaps become addicted, University of Utah biologists have discovered.

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A hidden and never before recognized layer of information in the genetic code has been uncovered by a team of scientists at UCSF, thanks to a technique developed at UCSF called ribosome profiling, which enables the measurement of gene activity inside living cells.

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A team of researchers led by scientists at Weill Cornell Medical College has designed what appears to be a powerful gene therapy strategy that can treat both beta-thalassemia disease and sickle cell anemia. They have also developed a test to predict patient response before treatment.

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Now that the Supreme Court has remanded Association for Molecular Pathology et al. v. Myriad Genetics, Inc., et al. (AMP v. Myriad) to the Court of Appeals for the Federal Circuit for further consideration, AMP is optimistic that it will ultimately prevail in its lawsuit to invalidate patents on two genes that are known to cause breast cancer.

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Researchers have identified genetic causes in nearly 1 in 5 patients who suffer a type of heart failure called dilated cardiomyopathy.

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Researchers have devised a nanoscale sensor to electronically read the sequence of a single DNA molecule, a technique that is fast and inexpensive and could make DNA sequencing widely available.

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Gene that encodes crucial pain receptor may be key to individualizing therapy for major health problem.

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Working with genetically engineered mice and the genomes of thousands of people with schizophrenia, researchers at Johns Hopkins say they now better understand how both nature and nurture can affect one’s risks for schizophrenia and abnormal brain development in general.

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Research on kidney stones in fruit flies may hold the key to developing a treatment that could someday stop the formation of kidney stones in humans, a team from Mayo Clinic and the University of Glasgow found.

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A study led by Eric Courchesne, PhD, director of the Autism Center of Excellence at the University of California, San Diego School of Medicine has, for the first time, identified in young autism patients genetic mechanisms involved in abnormal early brain development and overgrowth that occurs in the disorder. The findings suggest novel genetic and molecular targets that could lead to discoveries of new prevention strategies and treatment for the disorder

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The Lung Genomics Research Consortium – an alliance of scientists at five U.S. institutions – has published a new website that makes a broad range of genomic data on chronic lung disease available in a format specifically tailored to investigators’ needs.

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Bioethicists at Johns Hopkins University are among experts calling for biobanks to shoulder the responsibility for reporting incidental findings of serious health conditions to research patients.

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Research from a Kansas State University professor may make it easier to recover after spinal cord injury or to study neurological disorders. The research can greatly improve animal and human health by developing technology to advance cellular therapy and regenerative medicine.

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Research done by Australian scientist Jack da Silva, PhD, and published in the March issue of the journal GENETICS, suggests that even in early infection, when the virus population is low and has reduced genetic variation, HIV rapidly evolves to evade immune defenses and treatment.

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Scientists at Washington University School of Medicine in St. Louis have mapped the genetic evolution of cancer cells in seven patients with myelodysplastic syndromes who later died of leukemia, finding clues to suggest that targeted cancer drugs should be aimed at mutations that develop early in the disease.

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Researchers have identified a set of genetic abnormalities in patients with acute myelogenous leukemia (AML) that doctors can use to more accurately predict patients’ prognoses and select treatments that are most likely to benefit them. The study, led by investigators at Memorial Sloan-Kettering Cancer Center, will be published in the March 22 issue of the New England Journal of Medicine.

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St. Jude Children’s Research Hospital – Washington University Pediatric Cancer Genome Project and Memorial Sloan-Kettering Cancer Center discover first gene alteration associated with patient age and neuroblastoma outcome.

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Researchers at the UCLA stem cell center and the departments of chemistry and biochemistry and pathology and laboratory medicine have identified, for the first time, a generic way to correct mutations in human mitochondrial DNA by targeting corrective RNAs, a finding with implications for treating a host of mitochondrial diseases.