A team of bioinformaticians from Harvard University and the Virginia Bioinformatics Institute of Virginia Tech has presented new methods to integrate data from different sequencing platforms, thus producing a reliable set of genotypes that will serve as a benchmark for human genome sequencing.
Scientists have pieced together sections of DNA from 12 individual cells to sequence the genome of a bacterium known to live in healthy human mouths. With this new data, the researchers were able to reinforce a theory that genes in a closely related bacterium could be culprits in its ability to cause severe gum disease.
Physicians at Mayo Clinic’s Individualized Medicine Clinic and researchers at the Translational Genomics Research Institute (TGen) have personalized drug treatments for patients with cholangiocarcinoma using genomic sequencing technologies. Potential new treatment approaches are being validated to develop new tests that physicians can use to guide therapy for this aggressive cancer of the bile ducts that progresses quickly and is difficult to treat.
If you're a doctor, choosing the best drug for a patient with schizophrenia isn't easy. Researchers at UNC School of Medicine are trying to help by better understanding the genetic underpinnings of drug side effects while creating a better way for geneticists to design experiments.
Instead of only using a standard clinical interview to determine whether individuals met the criteria for a clinical diagnosis of bipolar disorder, UCLA researchers combined the results from brain imaging, cognitive testing, and an array of temperament and behavior measures. Using the new method, they and their collaborators have identified about 50 brain and behavioral measures that are both under strong genetic control and associated with bipolar disorder. Their discoveries could be a major step toward identifying the specific genes that contribute to the illness.
Immunogenetics experts at CHOP have developed a unique laboratory test for HLA typing. Relying on next-generation sequencing, the new, more comprehensive test may improve transplantation outcomes and expedite donor matching in bone marrow registries.
The first genome sequencing of the Ice Age skeletal remains of a 1-year-old boy has given scientists definitive proof that the first human settlers in North America were from Asia and not Europe, and that these people were the direct ancestors of modern Native Americans, according to research that includes a Texas A&M University professor.
Indiana University School of Medicine researchers have discovered a test to identify benign pancreatic cysts which could spare patients years of unnecessary tests and potential surgery.
A comprehensive genetic analysis of invasive bladder cancer tumors has found that the disease shares genetic similarities with two forms of breast cancer, according to researchers at the University of North Carolina Lineberger Cancer Center. Bladder cancer, which is the fourth most common malignancy in men and ninth most common in women in the United States, claimed more than 15,000 patients last year.
Among polar bears, only pregnant females den up for the colder months. So how do the rest survive the extreme Arctic winters? New research points to one potential answer: genetic adaptations related to production of nitric oxide, a compound cells use to help convert nutrients into energy or heat.
NYU Langone Medical Center researchers have found a biological weakness in the workings of the most commonly mutated gene involved in human cancers, known as mutant K-Ras, which they say can be exploited by drug chemotherapies to thwart tumor growth.
Genetic adaptations for life at high elevations found in residents of the Tibetan plateau likely originated around 30,000 years ago in peoples related to contemporary Sherpa. These genes were passed on to more recent migrants from lower elevations via population mixing, and then amplified by natural selection in the modern Tibetan gene pool, according to a new study by scientists from the University of Chicago and Case Western Reserve University, published in Nature Communications on Feb. 10. The transfer of beneficial mutations between human populations and selective enrichment of these genes in descendent generations represents a novel mechanism for adaptation to new environments.
In research that could ultimately lead to many new medicines, scientists from the Florida campus of The Scripps Research Institute have developed a potentially general approach to design drugs from genome sequence.
An international team of researchers, led by scientists from the University of California, San Diego School of Medicine and Indiana University, have identified a protein that broadly regulates how genetic information transcribed from DNA to messenger RNA (mRNA) is processed and ultimately translated into the myriad of proteins necessary for life.
Scientists at the University of Utah identified mutations in three key genes that determine feather color in domestic rock pigeons. The same genes control pigmentation of human skin and can be responsible for melanoma and albinism.
Molecular biologists from Indiana University are part of a team that has identified a protein that regulates the information present in a large number of messenger ribonucleic acid molecules that are important for carrying genetic information from DNA to protein synthesis.
New research is lighting up yet another reason for women to quit smoking. In a study published online in the journal Menopause, researchers from the Perelman School of Medicine at the University of Pennsylvania report the first evidence showing that smoking causes earlier signs of menopause – in the case of heavy smokers, up to nine years earlier than average – in white women with certain genetic variations.
All creatures great and small, including fruitflies, need sleep. The timing of when we sleep versus are awake is controlled by cells in tune with circadian rhythms of light and dark. Most of the molecular components of that internal clock have been worked out. On the other hand, what drives how much we sleep is less well understood. Researchers report a new protein involved in the homeostatic regulation of sleep in the fruitfly.
A team of researchers, led by physicians and scientists at Intermountain Medical Center and ARUP Laboratories in Salt Lake City, has made a medical breakthrough by discovering genetic mutations that cause a rare and deadly lung disease.
The accumulation of age-associated changes in a biochemical process that helps control genes may be responsible for some of the increased risk of cancer seen in older people, according to a National Institutes of Health study.
Disruptive clumps of mutated protein are often blamed for clogging cells and interfering with brain function in patients with the neurodegenerative diseases known as spinocerebellar ataxias. But a new study in fruit flies suggests that for at least one of these diseases, the defective proteins may not need to form clumps to do harm.
A research team led by Wayne State University, in collaboration with Michigan State University, has identified a single gene in honeybees that separates the queens from the workers. The scientists unraveled the gene’s inner workings and published the results in the current issue of Biology Letters. The gene, which is responsible for leg and wing development, plays a crucial role in the evolution of bees’ ability to carry pollen.
Scientists at Washington University School of Medicine in St. Louis have discovered what appears to be a potent stimulator of new bone growth. The finding could lead to new treatments for osteoporosis and other diseases that occur when the body doesn’t make enough bone.
New research from HHMI scientists reveals how a foreign-DNA-destroying system, known as CRISPR, efficiently locates its DNA targets within a bacterial genome.
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.
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.
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.
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.
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.
Mark Rothstein is a University of Louisville faculty member with expertise in medical ethics and patient privacy.
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.
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.
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.
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.
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.
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.
Researchers have developed a tissue scaffold that can deliver gene therapy to wounds over a period of several weeks.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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
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.
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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