Feature Channels: Genetics

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New research from HHMI scientists reveals how a foreign-DNA-destroying system, known as CRISPR, efficiently locates its DNA targets within a bacterial genome.

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In a study published in the January 31, 2014 issue of Science, an international team led by scientists at the University of California, San Diego School of Medicine report doubling the number of known causes for the neurodegenerative disorder known as hereditary spastic paraplegia. HSP is characterized by progressive stiffness and contraction of the lower limbs and is associated with epilepsy, cognitive impairment, blindness and other neurological features.

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Dartmouth researchers developed a new biological pathway-based computational model, called the Pathway-based Human Phenotype Network (PHPN), to identify underlying genetic connections between different diseases as reported in BioDataMining this week.

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A multi-university research team, including researchers with the Fralin Life Science Institute at Virginia Tech, discovered that the unique physical differences among brain tumor cells were because of chromosomal abnormalities.

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In the first whole-genome analysis conducted through the Roswell Park Center for Personalized Medicine, and the second ever in bladder cancer, researchers found two distinct patterns of genetic alteration in tumors and identified a potential target.

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Howard Hughes Medical Institute (HHMI) researchers at Harvard Medical School have analyzed exactly which areas of the human genome retain segments of Neanderthal DNA, passed down throughout the generations. By studying which genes modern humans still retain from our Neanderthal ancestors, researchers are able to tell a clearer story about the biological impact of human-Neanderthal interbreeding.

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Mark Rothstein is a University of Louisville faculty member with expertise in medical ethics and patient privacy.

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Columbia University Medical Center researchers have identified a gene, called matrix metalloproteinase-9 (MMP-9), that appears to play a major role in motor neuron degeneration in amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease. The findings, made in mice, explain why most but not all motor neurons are affected by the disease and identify a potential therapeutic target for this still-incurable neurodegenerative disease. The study was published today in the online edition of the journal Neuron.

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Two studies, which account for the largest DNA sequencing efforts to date on schizophrenia, reveal that the disorder is caused by far more rare genetic mutations than previously suspected.

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Kira Taylor, Ph.D., M.S., assistant professor, University of Louisville School of Public Health and Information Sciences, and her research team have identified five new genes associated with increased waist-to-hip ratio, potentially moving science a step closer to developing a medication to treat obesity or obesity-related diseases.

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The development of physical aggression in toddlers is strongly associated genetic factors and to a lesser degree with the environment, according to a new study led by Eric Lacourse of the University of Montreal and its affiliated CHU Sainte-Justine Hospital. Lacourse’s worked with the parents of identical and non-identical twins to evaluate and compare their behaviour, environment and genetics.

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AML is a blood cancer, but for many patients the cancer may originate from an unusual source: a mutation in their bone cells. In a study published today in the online edition of Nature, researchers at Columbia University Medical Center found that a mutation in the bone cells called osteoblasts, which build new bone, causes AML in mice. The mutation was found in nearly 40 percent of patients with AML or myelodysplastic syndrome, a precursor condition, who were examined as part of the study.

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Researchers at Washington University School of Medicine in St. Louis have decoded the genome of the hookworm, Necator americanus, finding clues to how it infects and survives in humans and to aid in development of new therapies to combat hookworm disease.

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Researchers have developed a tissue scaffold that can deliver gene therapy to wounds over a period of several weeks.

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Dogs and wolves evolved from a common ancestor between 9,000 and 34,000 years ago, before humans transitioned to agricultural societies, according to an analysis of modern dog and wolf genomes from areas of the world thought to be centers of dog domestication.

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Dogs were domesticated between 9,000 and 34,000 years ago, most likely while humans were still hunting and gathering – before the advent of agriculture.

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A mere glass full of water from Monterey Bay Aquarium's 1.2 million-gallon Open Sea tank, among the 10 largest aquariums in the world, is all scientists really needed to identify the Pacific Bluefin tuna, dolphinfish and most of the other 13,000 fish swimming there.

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At a glance, DNA is a rather simple sequence of A, G, C, T bases, but once it is packaged by histone proteins into an amalgam called chromatin, a more complex picture emerges. Histones, which come in four subtypes—H2A, H2B, H3, and H4—can either coil DNA into inaccessible silent regions or untwist it to allow gene expression. To further complicate things, small chemical flags, such as methyl groups, affect whether histones silence or activate genes.

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A team including researchers from Rensselaer Polytechnic Institute have discovered that a specific gene may play a major role in the development of a life-threatening birth defect called congenital diaphragmatic hernia, or CDH, which affects approximately one out of every 3,000 live births.

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Scientists have identified a mutated gene that causes a type of tenacious, benign brain tumor that can have devastating lifelong effects. Currently, the tumor can only be treated with challenging repeated surgeries and radiation.

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A study, published online today in Nature, used stem cells to correct a defective “ring chromosome” with a normal chromosome. Such therapy has the promise to correct chromosome abnormalities that give rise to birth defects and disabilities.

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New research, led by Rensselaer Polytechnic Institute researcher Chunyu Wang, has solved one mystery in the development of Familial Alzheimer’s Disease (FAD), a genetic variant of the disease that affects a small fraction of the Alzheimer’s population. In a paper published online January 6 in the journal Nature Communications, Wang and his team follow the trail of two genetic mutations – V44M and V44A – known to cause FAD, and show how the mutations lead to biochemical changes long linked to the disease.

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CLA researchers have developed a novel approach to study how these differences between individuals affect how strongly genes are expressed, or translated into the proteins that do the actual work in cells.

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A simple blood test that can locate gene defects associated with cancer? New MD Anderson research suggests the technology may not be too far off

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An international team of researchers has sequenced the genome of the elephant shark, a curious-looking fish with a snout that resembles the end of an elephant’s trunk. An analysis of the creature’s genome, is published Jan. 9 in the journal Nature.

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A new Q&A in the “Advancing Women’s Health” issue of Clinical Chemistry, the journal of AACC, explores the ethics of preimplantation genetic diagnosis, a form of genetic testing that has already made it possible for parents to conceive a child who is a donor match for a sick relative, who shares their minor disability (such as deafness), or to select gender.

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It’s taken nearly 200 years, but scientists in Arizona and Europe have teased out how the molecular switch for sex gradually and adaptively evolved in the honeybee.

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A new technique for studying the structure of the childhood RSV virus and its activity in living cells could help researchers unlock the secrets of the virus, including how it enters cells, how it replicates, and perhaps why certain lung cells escape the infection relatively unscathed.

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A new study discovers a molecule termed "THRIL" that regulates TNF-alpha.

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Working in mice, researchers at Washington University School of Medicine in St. Louis report developing a gene delivery method long sought in the field of gene therapy: a deactivated virus carrying a gene of interest that can be injected into the bloodstream and make its way to the right cells. In this early proof-of-concept study, the scientists have shown that they can target tumor blood vessels in mice without affecting healthy tissues.

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Mutations in a key gene predispose people to develop a rare tumor-causing disorder.

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Many rare disorders are caused by gene mutation. Yet until now the underlying genetic cause of more common conditions has evaded scientists. New research finds that six common diseases arise from DNA changes located outside genes. The study shows that multiple DNA changes, or variants, work in concert to affect genes, leading to autoimmune diseases.

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The face you critiqued in the mirror this morning was sculpted before you were born by a transient population of cells called neural crest cells. Those cells spring from neural tissue of the brain and embryonic spinal cord and travel throughout the body, where they morph into highly specialized bone structures, cartilage, connective tissue, and nerve cells.

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A new study identifies an unexpected molecular link between liver cancer, cellular stress, and risk factors for developing this cancer – obesity, alcoholism, and viral hepatitis.

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UT Southwestern neuroscience researchers have identified a gene that controls the response to cocaine by comparing closely related strains of mice often used to study addiction and behavior patterns.

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A new study by researchers at the Johns Hopkins Bloomberg School of Public Health and the University of Maryland School of Public Health found that while three out of four Americans were aware that Angelina Jolie had undergone a preventive double mastectomy, awareness of her story was not associated with an increased understanding of breast cancer risk. The study, published today in Genetics in Medicine, surveyed more than 2,500 adults nationwide three weeks after Jolie revealed in a New York Times op-ed that she had undergone the surgery because she carried a rare genetic mutation of the BRCA1 gene and had a family history of cancer.

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A genetic trait known to make some people especially sensitive to stress also appears to be responsible for a 38 percent increased risk of heart attack or death in patients with heart disease, scientists at Duke Medicine report.

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: The Association for Molecular Pathology (AMP) released a special article in the January 2014 issue of The Journal of Molecular Diagnostics titled “Revisiting Oversight and Regulation of Molecular-Based Laboratory-Developed Tests“ (LDTs).

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A University of Colorado Cancer Center study shows that ALK and ROS1 gene rearrangements known to drive subsets of lung cancer are also present in some colorectal cancers. These results imply that drugs used to target ALK and ROS1 in lung cancer may also have applications in this subset of colorectal cancer patients.

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University of Utah researchers have discovered a naturally occurring genetic variation in mice that predisposes carriers toward developing severe, inflammatory arthritis.

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The team of Johannes Zuber at the IMP in Vienna, Austria, managed to overcome remaining key limitations of RNA interference (RNAi) - a unique method to specifically shut off genes. By using an optimized design, the scientists were able to inhibit genes with greatly enhanced efficiency and accuracy. The new method facilitates the search for drug targets. The IMP will make this „RNAi toolkit“ available to researchers.

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A web research tool is helping cancer researchers and physicians make sense out of genetic data from nearly 100,000 patients and more than 50,000 mice. The Gene Expression Barcode 3.0 is a vital resource in the new era of personalized medicine.

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Virginia Bioinformatics Institute researchers studying life from a unique natural environment in Israel discover heat stress seems to influence a species' genetic makeup, a finding that may influence understanding of climate change.

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A new test may help physicians identify patients with the most lethal forms of triple-negative breast cancer. It was able to distinguish between patients with a good or poor prognosis, even within groups of patients already stratified by existing tests.

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A team of researchers led by Washington University School of Medicine in St. Louis has identified variations in a gene that double a person’s risk of developing Alzheimer’s disease later in life. The newly identified variations occur rarely in the population, making them hard for researchers to identify. But they’re important because individuals who carry them are at substantially increased risk.

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Researchers at the UNC School of Medicine and the Medical College of Wisconsin found that a new kind of gene therapy led to a dramatic decline in bleeding events in dogs with naturally occurring hemophilia A, a serious and costly bleeding condition.

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Mothers get all the attention. But a study led by McGill researcher Sarah Kimmins suggests that the father’s diet before conception may play an equally important role in the health of their offspring. It also raises concerns about the long-term effects of current Western diets and of food insecurity.

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Drugs that enhance a process called oxidative stress were found to kill rhabdomyosarcoma tumor cells growing in the laboratory and possibly bolstered the effectiveness of chemotherapy against this aggressive tumor of muscle and other soft tissue. The findings are the latest from the St. Jude Children’s Research Hospital–Washington University Pediatric Cancer Genome Project and appear in the December 9 edition of the scientific journal Cancer Cell.

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Hematology researchers have manipulated key biological events in adult blood cells to produce a form of hemoglobin normally absent after the newborn period. These cell culture findings may lead to a new therapy for sickle cell disease.