Research published in the journal GENETICS shows that marrying genome-wide and proteome-wide screening helps determine susceptibility in a wide variety of diseases.
In the journal GENETICS, NIH researchers review research on dog cranium development, suggest future research and how it may inform human skull development.
Researchers have found a genetic variant that doubles the likelihood that people will have calcium deposits on their aortic valve. Such calcification, if it becomes severe, can cause narrowing or a blockage of the aortic valve, a condition called aortic stenosis. The study is the first large-scale, genome-wide association study to uncover a genetic link to aortic valve calcification. An article detailing the findings is published in the February 7, 2013 issue of The New England Journal of Medicine.
A team of biologists from Indiana University and Brown University believes it has discovered the mechanism by which interacting mutations in mitochondrial and nuclear DNA produce an incompatible genotype that reduces reproductive fitness and delays development in fruit flies.
By broadly comparing the DNA of children to that of elderly people, gene researchers have identified copy number variations that influence lifespan, either by raising disease risk or by providing protection from disease.
Research from Whitehead Institute shows that transcription at the active promoters of protein-coding genes commonly runs in opposite directions. This leads to coordinated production of both protein-coding messenger RNAs (mRNAs) and long noncoding RNAs (lncRNAs).
Researchers found a key determinant in the balance between two proteins, BRCA1 and 53BP1, in DNA repair machinery. Breast and ovarian cancer are associated with a breakdown in the repair systems involving these proteins.
After an intensive three-year hunt through the genome, medical researchers have pinpointed mutations that leads to drug resistance and relapse in the most common type of childhood cancer—the first time anyone has linked the disease’s reemergence to specific genetic anomalies.
Autism spectrum disorders affect nearly 1 in 88 children, with symptoms ranging from mild personality traits to severe intellectual disability and seizures. New work to examine which genes are responsible for autism disorders will be presented at the 57th Annual Meeting of the Biophysical Society (BPS), held Feb. 2-6, 2013, in Philadelphia, Pa.
University of Utah researchers decoded the genetic blueprint of the rock pigeon, unlocking secrets about pigeons’ Middle East origins, feral pigeons’ kinship with escaped racing birds, and how mutations give pigeons traits like a fancy feather hairdo known as a head crest.
A new study, to be published in the Feb. 7, 2013 issue of the American Journal of Human Genetics, expands and deepens the biological and genetic links between cardiovascular disease and schizophrenia. Cardiovascular disease is the leading cause of premature death among schizophrenia patients, who die from heart and blood vessel disorders at a rate double that of persons without the mental disorder.
Genetic analysis by Stowers investigators has implications for a genetic disorder known as Hirschsprung Syndrome.
New ancient DNA research show Aztec empire altered genetics of the Otomí inhabitants of Xaltocan. It is the first study to provide genetic evidence for the anthropological cold case.
A novel genetic test can help identify small but aggressive lung tumors associated with poor survival, according to a study released today at the 49th Annual Meeting of The Society of Thoracic Surgeons held at the Los Angeles Convention Center.
A scientific team has expanded next-generation sequencing to create an off-the-shelf tool that does simultaneous whole-exome analysis of both nuclear and mitochondrial DNA. The test will aid genetic diagnosis of these complex disorders.
Researchers at the University of Michigan Comprehensive Cancer Center have developed a technique to better understand why RNA may be different in cancer cells than in normal cells. The technique will bring new depth of understanding to tests that sequence a tumor's entire genome.
Vanderbilt biochemists have discovered that the process bacteria undergo when they become drug resistant can act as a powerful tool for drug discovery.
Healthy men and women show little difference in their hearts, except for small electrocardiographic disparities. But new genetic differences found by Washington University in St. Louis researchers in hearts with disease could ultimately lead to personalized treatment of various heart ailments.
Genome sequencing data once regarded as junk is now being used to gain important clues to help understand disease. The latest example comes from the St. Jude Children’s Research Hospital – Washington University Pediatric Cancer Genome Project, where scientists have developed an approach to mine the repetitive segments of DNA at the ends of chromosomes for insights into cancer.
In a genome-wide analysis of 13 metastatic prostate cancers, scientists at the Johns Hopkins Kimmel Cancer Center found consistent epigenetic “signatures” across all metastatic tumors in each patient. The discovery of the stable, epigenetic “marks” that sit on the nuclear DNA of cancer cells and alter gene expression, defies a prevailing belief that the marks vary so much within each individual’s widespread cancers that they have little or no value as targets for therapy or as biomarkers for treatment response and predicting disease severity.
A novel software tool streamlines the detection of disease-causing CNVs through more sensitive detection methods and by automatically correcting for variations that reduce the accuracy of results in conventional software.
MU scientists Dongsheng Duan, PhD, and Yi Lai, PhD, identified a sequence in the dystrophin gene that is essential for helping muscle tissues function, a breakthrough discovery that could lead to treatments for the deadly hereditary disease. The MU researchers “found the proverbial needle in a haystack,” according to Scott Harper, PhD, a muscular dystrophy expert at The Ohio State University who is not involved in the study.
Large-scale genomic sequencing has revealed two DNA mutations that appear to drive about 15 percent of meningiomas report Dana-Farber Cancer Institute and Broad Institute scientists. Experimental drugs that inhibit these mutant gene pathways are in clinical trials and have shown promising activity.
Scientists have identified genetic circumstances under which common mutations on two genes interact in the presence of cocaine to produce a nearly eight-fold increased risk of death as a result of abusing the drug.
Johns Hopkins researchers have identified a rare gene mutation in a single family with a high rate of schizophrenia, adding to evidence that abnormal genes play a role in the development of the disease.
In one of the first genome-wide studies to hunt for both genes and their regulatory “tags” in patients suffering from a common disease, researchers have found a clear role for the tags in mediating genetic risk for rheumatoid arthritis (RA). The scientists say they were able to spot tagged DNA sequences that may be important for the development of RA.
Research led by St. Jude Children’s Research Hospital scientists has identified a possible lead in treatment of two childhood leukemia subtypes known for their dramatic loss of chromosomes and poor treatment outcomes.
Using only a computer, an Internet connection, and publicly accessible online resources, a team of Whitehead Institute researchers has been able to identify nearly 50 individuals who had submitted personal genetic material as participants in genomic studies.
In each cell, thousands of regulatory regions control which genes are active at any time. Scientists at the Institute of Molecular Pathology (IMP) in Vienna developed a method that reliably detects these regions and measures their activity. The new technology is published online by Science this week.
Melanomas that develop in the eye often are fatal. Now, scientists at Washington University School of Medicine in St. Louis report they have identified a mutated gene in melanoma tumors of the eye that appears to predict a good outcome.
A research team led by Arkady Mustaev, PhD, of the Public Health Research Institute (PHRI) at the University of Medicine and Dentistry of New Jersey-New Jersey Medical School, has published a study posted online by the Journal of Biological Chemistry, that describes an effort by the investigators to understand the underlying mechanisms of high precision (fidelity) of RNA synthesis by RNA polymerase, the major enzyme that promotes the transcription process. They attempted to influence the role of active center tuning (ACT) –- a mechanism they first identified -- in the process of transcription fidelity, which is the accurate copying of genetic information.
By looking at the entire DNA from this one patient’s tumor, researchers have found a genetic anomaly that provides an important clue to improving how a rare type of cancer is diagnosed and treated.
University of Utah (the U) researchers, in collaboration with several groups from around the country, published a paper on Monday, Jan. 14, 2013, following one of the biggest studies of its kind, that extends our understanding of genes related to autism spectrum diseases (ASDs) and advances methods for early detection and treatment.
Genetics researchers have identified 25 copy number variations (CNVs) that occur in some patients with autism. While individually rare, these CNVs are “high impact,” strongly increasing a person's autism risk.
Scientists at the UI and BYU have identified a gene that induces drug resistance in cancer. The finding could improve prognostic and diagnostic tools for evaluating cancer and monitoring response to treatment, and could lead to new therapies for eradicating drug-resistant cancer cells.
Penn researchers have been studying the epigenetics enzyme HDAC3 for several years. They discovered that its activity requires interaction with a specific region on another protein called the Deacetylase Activating Domain. This “nuts and bolts” discovery on the epigenetic control of a person’s genome has implications for cancer and neurological treatments.
Scientists have discovered a gene that interferes with the clearance of hepatitis C virus infection. They also identified an inherited variant within this gene, Interferon Lambda 4 (IFNL4), that predicts how people respond to treatment for hepatitis C infection.
Researchers at UCLA say it's not just what you eat that makes those pants tighter — it's also genetics. In a new study, scientists discovered that body-fat responses to a typical fast-food diet are determined in large part by genetic factors, and they have identified several genes they say may control those responses.
Research findings from the University of North Carolina School of Medicine are shining a light on an important regulatory role performed by the so-called dark matter, or “junk DNA,” within each of our genes.
In a novel use of gene knockout technology, researchers at the University of California, San Diego School of Medicine tested the same gene inserted into 90 different locations in a yeast chromosome – and discovered that while the inserted gene never altered its surrounding chromatin landscape, differences in that immediate landscape measurably affected gene activity.
Much of the DNA that makes up our genomes can be traced back to strange rogue sequences known as transposable elements, or jumping genes, which are largely idle in mammals. But Johns Hopkins researchers report they have identified a new DNA sequence moving around in bats — the first member of its class found to be active in mammals.
Research out of the George Washington University, published in the journal Proceedings of the National Academy of Sciences, reveals another piece of the puzzle in a genetic developmental disorder that causes behavioral diseases such as autism.
Climate change poses a major challenge to humanity’s ability to feed its growing population. But a new study of sorghum, led by Stephen Kresovich and Geoff Morris of the University of South Carolina, promises to make this crop an invaluable asset in facing that challenge.
Some brain changes that are found in adults with common gene variants linked to disorders such as Alzheimer’s disease, schizophrenia, and autism can also be seen in the brain scans of newborns, a study by UNC School of Medicine researchers finds.
Advances in bio-technologies and computer software have helped make genome sequencing much more common than in the past. But still in question are both the accuracy of different sequencing methods and the best ways to evaluate these efforts. Now, computer scientists have devised a tool to better measure the validity of genome sequencing.
As anyone familiar with the X-Men knows, mutants can be either very good or very bad — or somewhere in between. The same appears true within cancer cells, which may harbor hundreds of mutations that set them apart from other cells in the body; the scientific challenge has been to figure out which mutations are culprits and which are innocent bystanders. Now, researchers at Johns Hopkins Medicine have devised a novel approach to sorting them out: they generated random mutations in a gene associated with lymphoma, tested the proteins produced by the genes to see how they performed, and generated a catalog of mutants with cancer-causing potential.
An international team, headed by researchers at the University of California, San Diego School of Medicine, has identified a key enzyme in the reprogramming process that promotes malignant stem cell cloning and the growth of chronic myeloid leukemia (CML), a cancer of the blood and marrow that experts say is increasing in prevalence.
A cutting-edge genomic analysis method has helped researchers track new genetic contributors relevant to diabetes. The results provide a first example that the new tool can help decipher many complex diseases such as obesity and cancer.
Diagnosed with severe coronary artery disease, a group of patients too ill for or not responding to other treatment options decided to take part in a clinical trial testing angiogenic gene therapy to help rebuild their damaged blood vessels. More than 10 years later, in a follow-up review of these patients, doctors at Baylor College of Medicine, Weill Cornell Medical College (where the clinical trial and review took place) and Stony Brook University Medical Center report the outcomes are promising and open the door for larger trials to begin.
A breakthrough that will lead to understanding how bats carry very deadly viruses without getting sick has been reported by an international team of researchers who completed the first whole bat genome sequencing. That understanding may shed light on mitigating viral infections and ultimately lead to vaccines for deadly viruses. The results of the study, “Comparative analysis of bat genomes provides insight into the evolution of flight and immunity,” will appear in Science online. The full study will be available following the release of the embargo at 2 p.m. EST, Dec. 20, 2012.
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