The article describes the current and future roles of the laboratory professional as genomic sequencing analysis becomes an ever more increasingly important tool in diagnostic medicine.
Leveraging a novel system designed to examine the double-strand DNA breaks that occur as a consequence of gene amplification during DNA replication, Whitehead Institute scientists are bringing new clarity to the causes of such genomic damage. Moreover, because errors arising during DNA replication and gene amplification result in chromosomal abnormalities often found in malignant cells, these new findings may bolster our understandings of certain drivers of cancer progression.
What is it with cheating? Cheaters seem to have an immediate advantage over cooperators, but do they have an evolutionary advantage? A study published in Current Biology suggests the benefits of cheating change with its prevalence,in a population. Cheaters may succeed, for example, only when they are rare, and fail when they become so numerous they push out cooperators.
Trending news releases with the most views in a single day. Topics include: aging & genetics, cancer, treatment for kidney disease, healthcare & wellbeing, environment, welcoming new leaders.
Lung cancer, the world’s deadliest cancer, can be apparently successfully treated, only to return. And when it does so, it’s often resistant to the drugs that worked the first time. Now, a team led by Prof. Yosef Yarden has devised a novel three-pronged strategy that, in mice, kept lung cancer cells from developing resistance in the first place.
A study of the rapid evolution of the insulin-signaling molecular network that regulates growth, reproduction, metabolism and aging lays important groundwork for future studies.
University of Adelaide researchers have discovered cerebral palsy has an even stronger genetic cause than previously thought, leading them to call for an end to unnecessary caesareans and arbitrary litigation against obstetric staff.
A rare eye disorder marked by color blindness, light sensitivity, and other vision problems can result from a newly discovered gene mutation identified by an international research team, including scientists from Columbia University Medical Center (CUMC). The findings, which were published today in the online edition of Nature Genetics, could lead to new, targeted treatments for this form of color blindness.
Trending news releases with the most views in a single day. Topics include: neurology, cancer, immunotherapy, Alan Alda present science award, genetics, vision, lung cancer, prostate cancer, environmental health.
People with achromatopsia, an inherited eye disorder, see the world literally in black and white. Worse yet, their extreme sensitivity to light makes them nearly blind in bright sunlight. Now, researchers at University of California, San Diego School of Medicine and Shiley Eye Institute at UC San Diego Health System have identified a previously unknown gene mutation that underlies this disorder.
A team of scientists from Berkeley Lab, JGI and UC Berkeley, simplified and sped up genome assembly, reducing a months-long process to mere minutes. This was primarily achieved by “parallelizing” the code to harness the processing power of supercomputers.
In a report of a proof-of-principle study of patients with colon and other cancers for whom standard therapies failed, researchers at the Johns Hopkins Kimmel Cancer Center say that mistakes in so-called mismatch repair genes, first identified by Johns Hopkins and other scientists two decades ago, may accurately predict who will respond to certain immunotherapy drugs known as PD-1 inhibitors.
Scientists at the University at Buffalo have identified the mechanisms behind a genetic mutation that produces certain autistic behaviors in mice, as well as therapeutic strategies to restore normal behaviors.
Trending news releases with the most views in a single day. Topics include: income inequality, climate change, genetics, cancer, precision medicine, medical imaging, schizophrenia, research funding, molecular biology and skin cancer.
A landmark clinical study in the Lancet provides convincing evidence that a frequently overlooked therapy for genetically-caused emphysema is effective and slows the progression of lung disease.
Researchers have uncovered a new molecular mechanism - a function of the NONO protein - whereby cells protect their genome from the detrimental effect of UV radiation and govern DNA replication in cellular mitosis. A recent study investigates what happens when this molecular mechanism malfunctions.
A new Iowa State University study focusing on insulin signaling uncovered surprising genetic diversity across reptiles, birds and mammals. Scientists previously assumed the process remained much the same throughout the animal kingdom, but the new research shows that the genetic pathways in reptiles evolved to include protein forms not observed in mammals.
Valerie Hu, Ph.D., professor of biochemistry and molecular medicine at the George Washington University School of Medicine and Health Sciences, has found an important sex-dependent difference in the level of RORA protein in brain tissues of males and females. Specifically, females without autism have a slightly higher level of RORA in the frontal cortex of the brain than males without autism, while the levels of the protein are comparably lower in the brain of both males and females with autism.
Trending news releases with the most views in a single day. Topics include: genetics, cancer, nanotech, elderly care, marketing research, energy, children's health, and immunology.
Shawnia Ryan, MS, CGC is the second certified cancer genetic counselor in the state of New Mexico. She helps people make sense of the statistics and genetic information to answer their personal cancer genetic questions.
Individually rare but collectively common intermediate-size copy number variations may be negatively associated with educational attainment, according to a study in the May 26 issue of JAMA. Copy number variations (CNVs) are regions of the genome that differ in the number of segments of DNA.
Trending news releases with the most views in a single day. Topics include: genetics and cancer, diabetes and blindness, nanotech, engineering, personalized medicine, energy, and e-cigarettes.
Researchers at University of California, San Diego School of Medicine and Moores Cancer Center have now identified six mRNA isoforms (bits of genetic material) produced by ovarian cancer cells but not normal cells, opening up the possibility that they could be used to diagnose early-stage ovarian cancer. What’s more, several of the mRNA isoforms code for unique proteins that could be targeted with new therapeutics.
Removing accumulated mutant p53 protein from a cancer model showed that tumors regress significantly and survival increases. This finding, by an international team of cancer researchers led by Ute Moll, MD, Professor of Pathology at Stony Brook University School of Medicine, is reported in a paper published advanced online May 25 in Nature.
Researchers with the Fralin Life Science Institute at Virginia Tech have identified a gene responsible for sex determination in mosquitoes that can transmit yellow fever, dengue, and chikungunya viruses.
In a major advance in precision medicine, an international collaboration of researchers found 90 percent of castration resistant metastatic prostate cancers harbored some kind of genetic anomaly that could drive treatment choices.
A Kansas State University researcher has found that the dopamine transporter gene DAT1 can have both positive and negative effects on leadership in the workplace.
A class of FDA-approved cancer drugs may be able to prevent problems with brain cell development associated with disorders including Down syndrome and Fragile X syndrome, researchers at the University of Michigan Life Sciences Institute have found.
New results provide an important benchmark for researchers, helping to define the most accurate methods for identifying somatic mutations in cancer genomes.
Using a novel method they developed to map chromosome breaks in a model organism, Wenyi Feng, Ph.D., and her colleagues have discovered new information as to how and where chromosome fragile sites can occur in human DNA.
A new study shows that the microbial communities we carry in and on our bodies—known as the human microbiome—have the potential to uniquely identify individuals, much like a fingerprint.
The culmination of two decades of research, a new study reveals the genetic causes of a curious, rare syndrome that manifests as hypertension (high blood pressure) accompanied by short fingers (brachydactyly type E). Six, unrelated families with the syndrome come from across the globe – United States, Turkey, France, South America, and two from Canada – yet share mutations that cluster in a small region of phosphodiesterase 3A (PDE3A). Functional studies imply the mutations change resistance of blood vessels, an underappreciated mechanism for regulating blood pressure. The findings, published in Nature Genetics, suggest new directions for investigating causes of hypertension in the general population.
Rift Valley fever virus’ proteins imitate human DNA repair factors, say University of Montreal scientists. Using drugs to dam this chemical reaction would condemn the disease’s infectiousness.
A new population genetics model developed by researchers at The University of Texas Health Science Center at Houston (UTHealth) School of Public Health could explain why the genetic composition of Finnish people is so different from that of other European populations.
Dr. Gail Vance shares insights into genetic testing for breast and ovarian cancer in lieu of Angelina Jolie's recent announcement to have her ovaries removed. Dr. Vance is the Sutphin professor of Cancer Genetics and interim chairperson of the Department of Medical and Molecular Genetics at the Indiana University School of Medicine. As well, she is director of the Division of Diagnostic Genomics and the Indiana Familial Cancer Program, which provides genetic counseling, risk assessment, and genetic testing to individuals with an elevated risk for developing cancer.
Messenger RNA (mRNA) levels dictate most differences protein levels in fast-growing cells when analyzed using statistical methods that account for noise in the data, according to a new study by researchers from the University of Chicago and Harvard University.
Newly evolved genes can rapidly assume control over fundamental functions during early embryonic development, report scientists from the University of Chicago. The findings suggest that evolutionary changes to the genetics of fundamental biological processes occur more frequently than previously thought.
Some at-risk patients opted out of comprehensive cancer gene screening when presented with the opportunity to be tested for the presence of genes linked to various cancers, according to a recent study led by researchers at the Perelman School of Medicine at the University of Pennsylvania. Concern for uncertainty and potential distress were cited among the most common reasons to refuse testing.
The Global Biological Standards Institute (GBSI) has launched a video competition as part of its #authenticate campaign, which is designed to raise awareness in the life science community about the powerful role cell authentication can play in improving research reproducibility and fidelity.
Scientists at the University of Chicago, Harvard, and China have described the surprising discovery and function of a new DNA modification in insects, worms, and algae.
St. Jude Children’s Research Hospital scientists have developed a significantly better computer tool for finding genetic alterations that play an important role in many cancers but were difficult to identify with whole-genome sequencing. The findings appear today in the scientific journal Nature Methods. The tool is an algorithm called CONSERTING, short for Copy Number Segmentation by Regression Tree in Next Generation Sequencing.
Researchers have identified a genetic link between schizophrenia and strabismus, a condition involving misalignment of the eyes. The research is being presented at the 2015 Annual Meeting of the Association for Research in Vision and Ophthalmology (ARVO) this week in Denver, Colo.
Researchers at UT Southwestern Medical Center have identified mutations in two genes that cause a fatal lung scarring disease known as familial pulmonary fibrosis.
Gene therapy for Leber congenital amaurosis (LCA), an inherited disorder that causes loss of night- and day-vision starting in childhood, improved patients’ eyesight within weeks of treatment in a clinical trial of 15 children and adults at the Scheie Eye Institute at the Perelman School of Medicine at the University of Pennsylvania. New results involving a subset of patients from the ongoing trial show that these benefits peaked one to three years after treatment and then diminished. The findings are published today in The New England Journal of Medicine.