For decades, scientists have searched for treatments for myopathies — genetic muscular diseases such as muscular dystrophy and ALS, also called Lou Gehrig’s disease. Now, an interdisciplinary team of researchers from Arizona State and Stanford Universities, and the University of Arizona, has discovered a new avenue to search for treatment possibilities.
New study suggests “that if you’re working for a really bad boss over a long period of time, that experience may play out at the level of gene expression in your immune system," lead researcher says.
For the first time in a large study sample, the decline in brain function in normal aging is conclusively shown to be influenced by genes, say researchers from the Texas Biomedical Research Institute in San Antonio and Yale University.
Whitehead Institute scientists report that the gene mutated in the rare hereditary disorder known as Birt-Hogg-Dubé cancer syndrome prevents activation of mTORC1, a critical nutrient-sensing and growth-regulating cellular pathway.
Researchers at the University of Michigan Comprehensive Cancer Center have identified a type of mutation that develops after breast cancer patients take anti-estrogen therapies. The mutations explain one reason why patients often become resistant to this therapy.
New evidence suggests that aneuploidy patterns of chromosome deletion or amplification that are recurrent among tumors actually represent a driving force during tumor evolution and are very frequent in cancer.
Our vision depends on exquisitely organized layers of cells within the eye’s retina, each with a distinct role in perception. Johns Hopkins researchers say they have taken an important step toward understanding how those cells are organized to produce what the brain “sees.” Specifically, they report identification of a gene that guides the separation of two types of motion-sensing cells, offering insight into how cellular layering develops in the retina, with possible implications for the brain’s cerebral cortex.
Researchers at Johns Hopkins say they have found that a gene already implicated in human speech disorders and epilepsy is also needed for vocalizations and synapse formation in mice. The finding, they say, adds to scientific understanding of how language develops, as well as the way synapses — the connections among brain cells that enable us to think — are formed.
Only a few genetic changes are needed to spur the evolution of new species—even if the original populations are still in contact and exchanging genes. Once started, however, evolutionary divergence evolves rapidly, ultimately leading to fully genetically isolated species, report scientists from the University of Chicago in the Oct 31 Cell Reports.
Florida State University Professor Kimberly A. Hughes in the Department of Biological Science has a new study just published in the journal Nature that is the first to demonstrate a female preference for rare males using an experiment in a wild population, rather than a laboratory setting.
In the first molecular genetic study of families with a history of both language impairment and autism, scientists may have uncovered a shared origin for the two conditions, an important step toward explaining why some cases of autism are accompanied by language difficulties and others are not. The study indicates that a disorder called specific language impairment—one of the most common developmental delays in children—may be caused by the same genetic variants that lead to language difficulties in some children with autism.
Scientists in The Research Institute at Nationwide Children’s Hospital have found a way to overcome one of the biggest obstacles to using viruses to deliver therapeutic genes: how to keep the immune system from neutralizing the virus before it can deliver its genetic payload.
The largest international Alzheimer's disease genetics collaboration to date has found 11 new genetic areas of interest that contribute to late onset Alzheimer's Disease (LOAD), doubling the number of potential genetics-based therapeutic targets to interrogate.
A new study that decoded the DNA sequence of the kiwifruit has concluded that the fruit has many genetic similarities between its 39,040 genes and other plant species, including potatoes and tomatoes. The study also has unveiled two major evolutionary events that occurred millions of years ago in the kiwifruit genome.
An international research consortium led by investigators at Massachusetts General Hospital (MGH) and the University of Chicago has answered several questions about the genetic background of obsessive-compulsive disorder (OCD) and Tourette syndrome (TS), providing the first direct confirmation that both are highly heritable and also revealing major differences between the underlying genetic makeup of the disorders. Their report is being published in the October issue of the open-access journal PLOS Genetics.
Evolutionary biologist W.D. Hamilton predicted that organisms ought to evolve the ability to discriminate degrees of kinship so as to refine their ability to direct help to individuals with whom they shared the most genes. But two WUSTL biologists point out that there seem to be many cases where “a veil of ignorance” prevents organisms from gaining this kind of information, forcing them to consider a situation from the perspective of all members of their group instead of solely from their own perspective or that of their close kin.
The bacteria in the human mouth – particularly those nestled under the gums – are as powerful as a fingerprint at identifying a person’s ethnicity, new research shows.
In the beginning, all flu viruses came from birds. Over time, the virus evolved to adapt to other animals, including humans, as natural selection favored viruses with mutations that allowed them to more readily infect the cells of new host species.
Diabetes and dementia are rising dramatically in the United States and worldwide. In the last few years, epidemiological data has accrued showing that older people with diabetes are significantly more likely to develop cognitive deterioration and increased susceptibility to onset of dementia related to Alzheimer’s disease. Now, a research team led by Giulio Maria Pasinetti, MD, PhD, the Saunders Family Chair and Professor of Neurology at the Icahn School of Medicine at Mount Sinai, discovered a novel mechanism through which this may occur. The results are published online Oct. 23, in the journal Diabetes.
The major genetic risk factor for Alzheimer’s disease, present in about two-thirds of people who develop it, is ApoE4, the cholesterol-carrying protein that about a quarter of us are born with. But one of the unsolved mysteries of AD is how ApoE4 causes this risk. Researchers at the Buck Institute have found a link between ApoE4 and SirT1, an “anti-aging protein” that is targeted by resveratrol, present in red wine.
Findings by researchers contribute towards the development and application of therapeutics for liver cancer
A UCLA study is the first to identify a biological clock able to gauge the age of most human tissues. Some parts of the anatomy, like a woman’s breasts, age faster than the rest of the body.
Research led by St. Jude Children’s Research Hospital scientists has linked an inherited gene variation to a nearly four-fold increased risk of developing a pediatric acute lymphoblastic leukemia (ALL) subtype that is associated with a poor outcome.
A gene important in skin tanning has been linked to higher risk for testicular cancer in white men, according to a study led by scientists from the U.S. National Institutes of Health and the University of Oxford in England. Nearly 80 percent of white men carry a variant form of this gene, which increased risk of testicular cancer up to threefold in the study.
With the flick of a light switch, researchers at the Salk Institute for Biological Studies can change the shape of a protein in the brain of a mouse, turning on the protein at the precise moment they want. This allows the scientists to observe the exact effect of the protein's activation. The new method, described in the October 16 issue of the journal Neuron, relies on specially engineered amino acids----the molecules that make up proteins----and light from an LED. Now that it has been shown to work, the technique can be adapted to give researchers control of a wide variety of other proteins in the brain to study their functions.
Examining 12 major types of cancer, scientists at Washington University School of Medicine in St. Louis have identified 127 repeatedly mutated genes that appear to drive the development and progression of a range of tumors in the body. The discovery sets the stage for devising new diagnostic tools and more personalized cancer treatments.
Though worlds apart, four unrelated families have been united in a medical mystery over the source of a rare inherited disorder that results in their children being born with abnormal brain growth and severe functional impairments.
Johns Hopkins scientists have developed new drugs that — at least in a laboratory dish — appear to halt the brain-destroying impact of a genetic mutation at work in some forms of two incurable diseases, amyotrophic lateral sclerosis (ALS) and dementia.
Applications of stem cells in developing thyroid function. This is an important area to treat anyone with thyroid deficiency, whether congenital or acquired. Chinnaiyan, explores how genes and mutations can cause cancer, and how genome sequencing can be used to diagnose and treat cancer.
New research at Washington University School of Medicine in St. Louis shows that chronic itching, which can occur in many medical conditions, is different from the urge to scratch a mosquito bite. Chronic itching appears to incorporate more than just the nerve cells that normally transmit itch signals. In chronic itching, neurons that send itch signals also co-opt pain neurons to intensify the itch sensation.
Researchers have identified hundreds of variants in a patient’s DNA sequence or genetic code that predict which military service members are more likely to develop persistent, chronic pain after amputation, according to a study presented at the ANESTHESIOLOGY™ 2013 annual meeting.
Researchers at Washington University School of Medicine in St. Louis have created a massive online database that matches thousands of genes linked to cancer and other diseases with drugs that target those genes. Some of the drugs are approved by the U.S. Food and Drug Administration, while others are in clinical trials or just entering the drug development pipeline.
Researchers at the University of California, San Diego School of Medicine have developed a new way to parse and understand how special proteins called “master regulators” read the genome, and consequently turn genes on and off.
Long-term memory loss, difficulty understanding verbal or written communication or impaired ability to pay attention may still occur five years after heart surgery if a patient has a certain gene variation, according to a study presented at the ANESTHESIOLOGY™ 2013 annual meeting. This gene was found to be related to a decline in cognitive capabilities compared to those who do not have the variation.
Ancient DNA recovered from a time series of skeletons in Germany spanning 4,000 years of prehistory has been used to reconstruct the first detailed genetic history of modern-day Europeans.
A research team from Dana-Farber/Boston Children's Cancer and Blood Disorders Center and other institutions has discovered a new genetic target for potential therapy of sickle cell disease (SCD). The target, called an enhancer, controls a molecular switch in red blood cells called BCL11A that, in turn, regulates hemoglobin production. The researchers—led by Daniel Bauer, MD, PhD, and Stuart Orkin, MD, of Dana-Farber/Boston Children's—reported their findings today in Science.
Our ability to detect heat, touch, tickling and other sensations depends on our sensory nerves. Now, for the first time, researchers at Albert Einstein College of Medicine of Yeshiva University have identified a gene that orchestrates the crucially important branching of nerve fibers that occurs during development. The findings were published online today in the journal Cell.
Having recently discovered a set of powerful gene regulators that control cell identity in a few mouse and human cell types, Whitehead Institute scientists are now showing that these regulators—which they named “super-enhancers”—act across a vast array of human cell types and are enriched in mutated regions of the genome that are closely associated with a broad spectrum of diseases.
A research team, headed by Theodore Friedmann, MD, professor of pediatrics at the University of California, San Diego School of Medicine, says a gene mutation that causes a rare but devastating neurological disorder known as Lesch-Nyhan syndrome appears to offer clues to the developmental and neuronal defects found in other, diverse neurological disorders like Alzheimer’s, Parkinson’s and Huntington’s diseases.
The global wheat industry sometimes loses as much as $1 billion a year because prolonged rainfall and high humidity contribute to grains germinating before they are fully mature. This phenomenon, known as pre-harvest sprouting or PHS, has such important economic repercussions for farmers around the world that scientists have been working on finding a solution to the problem for at least a couple of decades. Findings by a McGill team now suggest that the solution may lie not with genetics alone, but rather with a combination of genetic and epigenetic factors.
A team of scientists from the Cancer Science Institute of Singapore (CSI Singapore) at the National University of Singapore (NUS) and their collaborators from the Harvard Stem Cell Institute have found that a novel noncoding ribonucleic acid (RNA) offers the potential for "switching on" of tumour suppressors that have been shut off.
Scientists from the University of Iowa and University of Texas Southwestern Medical Center have discovered -- by studying the genetics of two families severely affected by eating disorders -- two gene mutations, one in each family, that are associated with increased risk of developing eating disorders.
Researchers from Case Western Reserve University School of Medicine have found unexpected similarities between proteins that were thought to be fundamentally different. The team published a new study in Nature showing that non-specific proteins actually have the ability to be specific about where they bind to RNA – seeking out and binding with particular sequences of nucleotides.
By studying the genetic makeup of breast cancer patients, doctors are taking the next steps forward in delivering more personalized care to patients. Whole genome sequencing from cancers is not a new concept, but recently researchers have delved more deeply into the evolution of breast cancers identifying that it comes in four distinct types. Breaking down how the cells of each sub-type of the disease function is allowing for doctors to customize treatments for improved outcomes.
A global hunt for genes that influence heart disease risk has uncovered 157 changes in human DNA that alter the levels of cholesterol and other blood fats – a discovery that could lead to new medications.
Children born with developmental disorders called cohesinopathies can suffer severe consequences, including intellectual disabilities, limb shortening, craniofacial anomalies, and slowed growth. Researchers know which mutations underlie some cohesinopathies, but have developed little understanding of the downstream signals that are disrupted in these conditions.
Whitehead Institute researchers have discovered that the protein product of the gene MECP2, which is mutated in about 95% of Rett syndrome patients, is a global activator of neuronal gene expression. Mutations in the protein can cause decreased gene transcription, reduced protein synthesis, and severe defects in the AKT/mTOR signaling pathway.
Using powerful genetic sequencing technology, a team of investigators, led by researchers at the Icahn School of Medicine at Mount Sinai, scanned the genome of hundreds of individuals, and discovered those diagnosed with autism spectrum disorder (ASD) were more likely to have gene deletions than were people without the disorder. That means those individuals -- seven percent of the study group -- had one copy of one or more genes when they should have had two.
As more and more people recognize the importance of the wild relatives of crop plants to agriculture and food security, interest in cataloging and conserving these plants is building around the world. At the annual meetings of the American Society of Agronomy, Crop Science Society of America, and Soil Science Society of America on Nov. 3-6, 2013, two speakers will describe the latest efforts to identify and protect the wild relatives of domesticated crop plants both in the United States and abroad.
The discovery of genetic differences affecting up to a third of the population could take the guesswork out of prescribing the correct dose of 25 percent of drugs currently on the market, researchers say.
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