New study finds general physicians order few genetic tests, don’t always discuss risks and benefits; take limited family histories.
Biologists from the Koch Institute for Integrative Cancer Research at MIT have found that tumor cells with mutated p53 can be made much more vulnerable to chemotherapy by blocking another gene called MK2.
An international scientific team has discovered a gene associated with a high risk of severe childhood asthma. The specific gene variant may be an actual cause of this form of asthma, a leading cause of hospitalization in young children.
Scientists have identified the genetic signature of respiratory syncytial virus (RSV), the leading cause of infant hospitalizations around the world. The work is a key step toward a better understanding of the immune response to RSV, which will aid the development of a vaccine and a tool that could allow physicians to determine the severity of the infection when symptoms first develop.
Friendly microbes in the intestinal tracts of healthy American children have numerous antibiotic resistance genes that could be passed to harmful microbes, according to a pilot study by scientists at Washington University School of Medicine in St. Louis.
University of Adelaide researchers have taken a step forward in unravelling the causes of a commonly inherited intellectual disability, finding that a genetic mutation leads to a reduction in certain proteins in the brain.
The deletion of any single gene in yeast cells puts pressure on the organism’s genome to compensate, leading to a mutation in another gene. The discovery is likely applicable to human genetics and cancer, and could have significant consequences for the way genetic research is done.
Researchers at the Cardiovascular Research Center at Icahn School of Medicine at Mount Sinai have successfully tested a powerful gene therapy, delivered directly into the heart, to reverse heart failure in large animal models.
The novel compound IRL-1620 may be useful in treating Alzheimer’s disease (AD) as it has been shown to prevent cognitive impairment and oxidative stress in animal models.
Researchers led by bioengineers at the University of California, San Diego have generated the most complete genome sequences from single E. coli cells and individual neurons from the human brain. The breakthrough comes from a new single-cell genome sequencing technique that confines genome amplification to fluid-filled wells with a volume of just 12 nanoliters.
A new report by researchers in the Perelman School of Medicine at the University of Pennsylvania found that loss-of-function mutations to Filaggrin-2 (FLG2), a gene that creates a protein responsible for retaining moisture and protecting the skin from environmental irritants, were associated with atopic dermatitis in African American children.
A study led by researchers at the University of California, San Diego School of Medicine shines a new light on molecular tools our cells use to govern regulated gene expression.
New research provides direct evidence that genetic variations in some African Americans with chronic kidney disease contribute to a more rapid decline in kidney function compared with white Americans.
Genetic factors in African Americans with chronic kidney disease (CKD) put them at a greater risk for end-stage renal disease (ESRD) compared to white Americans, according to a new study released today in the New England Journal of Medicine. Researchers at Johns Hopkins University and the University of Maryland contributed data from two separate studies: the African American Study of Kidney Disease and Hypertension (AASK) and the Chronic Renal Insufficiency Cohort Study (CRIC).
Technion scientists have moved a step closer to creating custom medical treatment plans based on a patient's DNA, pinpointing the root of a patient's illness and making sure treatment will not cause a fatal allergic reaction.
Mayo Clinic researchers have shown that a molecule called Cul4 helps to deposit DNA-packaging histone proteins onto DNA, an integral step in cramming yards of genetic code into compact coils that can fit into each cell. When DNA isn’t packaged correctly, it can lead to the genomic instability characteristic of many forms of cancer.
Two groups of scientists at the Children’s Medical Center Research Institute at UT Southwestern (CRI) have made complementary discoveries that break new ground on efforts to turn back the body’s clock on cellular activity, paving the way for a better understanding of stem cells, tissue growth, and regeneration.
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.
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