Research sheds new light on how DNA repair occurs in the cell. Expanded repeats of the CAG/CTG trinucleotide in yeast shift to the periphery of the cell nucleus for repair. This shift is important for preventing repeat instability and genetic disease and is a previously unrecognized step for repetitive DNA to be maintained and to prevent chromosome damage.
When common chemotherapy drugs damage DNA in cancer cells, the cells can’t replicate. But the cells have ways to repair the DNA. The cancer drugs aren’t effective enough. UNC researchers developed a way to find where this DNA repair happens. Their goal is to increase the potency of cancer drugs.
DNA can be damaged by different environmental insults, such as ultraviolet light, ionizing radiation, oxidative stress or certain drugs. If the DNA is not repaired, cells may begin growing uncontrollably, leading to the development of cancer. Therefore, cells must maintain an intricate regulatory network to ensure that their DNA remains intact. Moffitt Cancer Center researchers have discovered a novel mechanism that controls a cell’s response to DNA damage.
Researchers at The University of Texas Health Science Center at Houston (UTHealth) are helping to make precision medicine a reality by sequencing entire exomes of people to assess chronic disease risk and drug efficacy. The results of a study on this topic were published in Nature Genetics on Monday.
The Genetics Society of America (GSA) and Executive Producer Rochelle Easton Esposito, PhD, are pleased to announce that Conversations in Genetics, an oral history of our intellectual heritage in genetics, is now available for free online viewing at http://www.genestory.org/.
New study in Nature Communications by Icahn School of Medicine at Mount Sinai shows gene therapy can edit out genetic material linked to heart failure and replace it with the normal gene in human cardiac cells.
Trending news releases with the most views in a single day. Topics include: Underage drinking, dieting, electrical engineering, neurology and genetics, Nepal earthquake, breast cancer, and supercomputing.
Scientists have discovered that neurons are risk takers: They use minor “DNA surgeries” to toggle their activity levels all day, every day. Since these activity levels are important in learning, memory and brain disorders, the researchers think their finding will shed light on a range of important questions.
In a first step towards realizing the future of personalized pediatric medicine, Rady Children’s Hospital–San Diego has begun whole genome sequencing of San Diego County children born with birth defects of unknown cause.
Researchers at the University of Michigan and UC Davis have solved a genetic mystery that has afflicted three unrelated families plagued by congenital eye malformations.
An international team of researchers has sequenced the nearly complete genome of two Siberian woolly mammoths—revealing the most complete picture to date—including new information about the species’ evolutionary history and the conditions that led to its mass extinction at the end of the Ice Age.
Salk scientists use molecular “scissors” to eliminate mitochondrial mutations in eggs and embryos
Trending news releases with the most views in a single day. Topics include: diet supplements and cancer risk (3 days on top 10 list), oral mucositis in cancer treatment, updated breast cancer screening guidelines, climate change, materials science, asthma, mental health and gun violence, genetics and immunology, and multiple sclerosis treatment.
Epigenetic marks on our DNA account for how all cells in the body have the same DNA sequence, inherited from our parents, but nonetheless there are hundreds of different cell types. The body uses epigenetics as its principal control system, to increase or decrease the expression of our genes, and epigenetic processes are known to be important in memory and other aspects of brain function. The new research used umbilical cord tissue collected at birth and identified epigenetic marks in a key brain development gene called HES1 that were linked to the child’s ability to learn and their cognitive performance at ages 4 and 7 years. The findings in two groups of children in Southampton, UK, were accompanied by additional findings in children from Singapore that HES1 epigenetic marks at birth were associated with aspects of socially disruptive behaviour that have previously been linked with a reduced school performance.
In the largest genome-wide analysis of common variable immunodeficiency disorder (CVID), scientists identified a gene that may be a "missing link" between overactive and underactive immune activity.
Researchers have uncovered the first evidence of a genetic link between prodigy and autism. The scientists found that child prodigies in their sample share some of the same genetic variations with people who have autism.
Research from Rutgers Cancer Institute of New Jersey shows genomic profiling identifies genomic mutations in a gene associated with a rare subset of breast cancer – mutations that cannot otherwise be identified with standard clinical analysis of cells and tissue. The findings, being presented at the AACR Annual Meeting could have therapeutic implications specific to this rare form of the disease, say the authors.
Most cancer patients would opt for tumor profiling even if the test revealed that they or their families were at risk for other genetic diseases, according to a Yale Cancer Center study. The findings were presented April 21 at the American Association for Cancer Research Annual Meeting 2015 in Philadelphia.
In a small study that included seven children and teens with Wiskott-Aldrich syndrome, a rare immunodeficiency disorder, use of gene therapy resulted in clinical improvement in infectious complications, severe eczema, and symptoms of autoimmunity, according to a study in the April 21 issue of JAMA, a theme issue on child health.
A significant proportion of children with chronic kidney disease (CKD) have unsuspected chromosomal imbalances, including DNA anomalies that have been linked to neurocognitive disorders, according to a new Columbia University Medical Center (CUMC) study.
At AACR, joint study by NCI and University of Colorado Cancer Center shows TERT is most commonly mutated gene in bladder cancer.
An international team of scientists, including researchers from Washington University School of Medicine in St. Louis, have found antibiotic resistance genes in the bacterial flora of a South American tribe that never before had been exposed to antibiotic drugs. The findings suggest that bacteria in the human body have had the ability to resist antibiotics since long before such drugs were ever used to treat disease.
Scientists from the Icahn School of Medicine, collaborating with a multicenter team of U.S. and Venezuelan researchers, have discovered the most diverse collection of bacteria yet in humans among an isolated tribe of Yanomami Amerindians in the remote Amazonian jungles of Venezuela.
Zinc deficiency – long associated with numerous diseases, e.g. autism, lung cancer, prostate cancer, and ovarian cancers – can lead to activation of the Hedgehog signaling pathway, a biomolecular pathway that plays essential roles in developing organisms and in diseases, according to new research at Rensselaer Polytechnic Institute.
A concentrated extract of maple syrup makes disease-causing bacteria more susceptible to antibiotics, according to laboratory experiments by researchers at McGill University. The findings suggest that combining maple syrup extract with common antibiotics could increase the microbes’ susceptibility, leading to lower antibiotic usage
An international team of scientists, led by researchers at University of California, San Diego School of Medicine, have found genetic overlap between Alzheimer’s disease (AD) and two significant cardiovascular disease risk factors: high levels of inflammatory C-reactive protein (CRP) and plasma lipids or fats. The findings suggest the two cardiovascular phenotypes play a role in AD risk and perhaps offer a new avenue for potentially delaying disease progression.
A study by Johns Hopkins scientists strongly suggests that sequencing tumor genomes for clues to genetic changes might misdirect treatment in nearly half of all patients unless it is compared first to a genetic readout of their noncancerous tissue.
Bacteria, which we so often fight, have an immune system, too – in their case, to fight off invasive viruses called phages. Like any immune system, its first challenge is to distinguish between “foreign” and “self.” A Weizmann Institute of Science and Tel Aviv University team has now revealed exactly how bacteria are able to do this.
In a small study, Johns Hopkins researchers found that DNA from the sperm of men whose children had early signs of autism shows distinct patterns of regulatory tags that could contribute to the condition.
Research led by the University of Michigan Life Sciences Institute has identified a gene critical to controlling the body's ability to create blood cells and immune cells from blood-forming stem cells—known as hematopoietic stem cells.
As researchers are discovering that placebo responses are modified by a person's genetics, investigators from Beth Israel Deaconess Medical Center are raising questions as to how "the placebome" will impact both patient care and drug development.
While it has long been recognised that genetics – alongside environmental factors – play a role in developing psychiatric disorders, the function of individual genes is still largely unknown. But an international, multi-disciplinary team led by Bournemouth University’s Dr Kevin McGhee is aiming to uncover just that – using fruit flies to isolate and examine the genes involved in the development of schizophrenia, with the hope of improving knowledge and treatments for the condition.
Rachel Koszegi is on a mission to fight cancer, and she’s not alone. The 33-year-old mother who has tested positive for the BRCA2 cancer gene is one of 12 people in her family over three generations linked to the gene or diagnosed with cancer. Now she is using her family’s genetic history to contribute to cancer research, prevention and treatment – with the aim of improving the quality of life for those facing hereditary risk.
A genetic analysis led by UT Southwestern Medical Center researchers suggests that most pancreatic cancers harbor genetic alterations that could be targeted by existing drugs, using their genetic features as a roadmap for treatment. The findings support a precision approach to treating pancreatic cancer, the fourth most deadly cancer for both men and women
When children are unmotivated at school, new research suggests their genes may be part of the equation.
Humans carry an average of one to two mutations per person that can cause severe genetic disorders or prenatal death when two copies of the same mutation are inherited, according to estimates published today in the journal GENETICS. The new numbers were made possible by a long-term collaboration between medical researchers and a unique community that has maintained detailed family histories for many generations.
Uncovering cellular response to stress may provide leverage to determine how to trick undesirable cells, such as cancer or damaged cells, into dying instead of recovering from stress.
In a study involving more than 31,000 women with cancer-causing mutations in the BRCA1 or BRCA2 genes, researchers at The Basser Center for BRCA, the Abramson Cancer Center, and the Perelman School of Medicine at the University of Pennsylvania identified mutations that are associated with significantly different risks of breast and ovarian cancers.
A new study from the University of Michigan Comprehensive Cancer Center finds that many women diagnosed with breast cancer are concerned about the genetic risk of developing other cancers themselves or of a loved one developing cancer.
Scientists at The University of Manchester have discovered that a previously known gene also helps cells divide normally and that its absence can cause tumours.
Indiana University researchers have found that broken communication in a specific part of the brain plays a role in the involuntary physical movements that affect individuals with Huntington's disease.
Genetic studies in humans, zebrafish and mice have revealed how two different types of genetic variations team up to cause a rare condition called Hirschsprung’s disease. The findings add to an increasingly clear picture of how flaws in early nerve development lead to poor colon function, which must often be surgically corrected. The study also provides a window into normal nerve development and the genes that direct it.
Candida albicans causes potentially lethal infections in immunocompromised individuals. Now, using a modified CRISPR-Cas system, Whitehead researchers can edit the fungus’s genome systematically—an approach that could help identify potential drug targets.
Recent large-scale genomic analyses have uncovered dozens of common genetic variants that are associated with breast cancer. Each variant, however, contributes only a tiny amount to a person’s overall risk of developing the disease.
Because pseudogenes have lost the ability to code for proteins they have have long been considered nothing more than "genomic junk." Now, a team from the Cancer Research Institute at Beth Israel Deaconess Medical Center has discovered that one of these evolutionary relics caused an aggressive cancer, suggesting this "junk" may play a key role in disease.
CENTOGENE AG (“CENTOGENE”) announces the launch of the world’s largest genetic mutation database for rare diseases, CentoMD®.
Researchers at the University of Warwick and UHCW have discovered how body clock genes could affect women’s ability to have children.
The little voice inside your head that tells you to eat, or stop eating, isn’t a little voice – it’s actually a cluster of about 10,000 specialized brain cells. And now, scientists have found tiny triggers inside those cells that give rise to this “voice”, and keep it speaking throughout life.
In the April 2015 issue of Genome Research, a team including DOE JGI researchers compared two ways of using next generation Illumina sequencing machines to help with a metagenomics challenge where the more commonly used sequencing machines generate data in short lengths, while short-read assemblers may not be able to distinguish among multiple occurrences of the same or similar sequences, making it difficult to identify all the members in a microbial community.
Coronary heart disease and stroke, two of the leading causes of death in the United States, are diseases associated with heightened platelet reactivity. A new study in humans suggests an underlying reason for the variability in the risk of clotting is due to a genetic variation in a receptor on the surface of the platelet.
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