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.
Researchers at the Kimmel Cancer Center at Jefferson have developed potentially game-changing diagnostic and prognostic genetic tests shown to better predict prostate cancer survival outcomes and distinguish clinically-relevant cancers.
There are promising results from the first-ever use of a virus-based gene therapy for a neurodegenerative/neurological disorder. The therapy was given to 19 young patients with Canavan disease, a devastating inherited childhood condition.
Autism sequencing consortium discovers six new drug targets through large-scale studies.
Scientists at Tufts University have discovered a new gene mechanism that appears to regulate triglyceride levels. This pathway may protect carriers of a gene variant against cardiovascular disease.
Is homosexuality genetic? It's a long-running debate. Now researchers at the University of Tennessee, Knoxville, say they've found a clue that may unlock the mystery. It lies in something called epi-genetics—how gene expression is regulated by temporary switches.
Stroke the soft body of a newborn fruit fly larva ever-so-gently with a freshly plucked eyelash, and it will respond to the tickle by altering its movement—an observation that has helped scientists at the University of California, San Francisco (UCSF) uncover the molecular basis of gentle touch, one of the most fundamental but least well understood of our senses.
A new method for detecting abnormalities in unborn children is providing physicians with more information to analyze the results than conventional, microscopic testing, according to two George Washington University researchers.
The Archibald Lab at Dalhousie led a team of researchers from across the globe that decoded the genetic blueprints of two tiny organisms, shedding light on a major feat of evolution.
A large, multi-center clinical trial led by Columbia University Medical Center shows that a new genetic test resulted in significantly more clinically relevant information than the current standard method of prenatal testing. The test uses microarray to conduct a comprehensive examination of a fetus’s DNA. Results will be in the 12/6/12 issue of NEJM.
Our bodies contain far more microbial genes than human genes. And a new study suggests that just as human DNA varies from person to person, so too does the massive collection of microbial DNA in the intestine. The research is the first to catalog the genetic variation of microbes that live in the gut.
Genetics study shows promise in feeding the world in spite of heat and drought.
Techniques used in breeding programs meant to yield the perfect dairy cow may soon more accurately predict a person’s genetic risk for skin cancer.
Using powerful gene-analysis tools, researchers have discovered mutations in two related genes, ARID1A and ARID1B, that are involved in the most aggressive form of the childhood cancer neuroblastoma.
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