Feature Channels: Genetics

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In a retrospective study believed to be one of the largest of its kind, researchers say they have successfully charted the health risks, growth patterns, and medical and surgical outcomes of 1,374 people with the most common form of dwarfism, called achondroplasia, seen over a 60-year period at four academic medical centers, including Johns Hopkins Medicine. The findings, according to the researchers, not only affirm some long-standing views and trends in the care of those with the condition, but also offer a standardized baseline, a blueprint investigators hope will serve to speed diagnosis and improve patients’ quality of life and health.

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University of Maryland School of Medicine (UMSOM) researchers identified a new gene that may be linked to certain neurodevelopmental disorders and intellectual disabilities.

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In a bid to find or refine laboratory research models for cancer that better compare with what happens in living people, Johns Hopkins Medicine scientists report they have developed a new computer-based technique showing that human cancer cells grown in culture dishes are the least genetically similar to their human sources.

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UC San Diego School of Medicine researchers discovered that the enzyme RNA polymerase II recognizes and transcribes artificially added base pairs in genetic code, a new insight that could help advance the development of new vaccines and medicines.

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Genetic mutations indicative of DNA damage were associated with high red meat consumption and increased cancer-related mortality in patients with colorectal cancer.

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An antibiotic developed in the 1950s and largely supplanted by newer drugs, effectively targets and kills cancer cells with a common genetic defect, laboratory research by Dana-Farber Cancer Institute scientists shows. The findings have spurred investigators to open a clinical trial of the drug, novobiocin, for patients whose tumors carry the abnormality.

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The EV-CATCHER methodology identifies and captures tiny pieces of genetic material – and shows value in COVID-19 plasma

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UCLA Health will receive a $4.8 million grant from The National Institutes of Health to develop methods that will improve genetic risk estimates – polygenic risk scores – for specific diseases in people from diverse populations and mixed ancestries.

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Researchers have identified a new gene that may increase a person’s risk of developing ALS, according to a new study published in the June 16, 2021, online issue of Neurology®, the medical journal of the American Academy of Neurology. The gene, called TP73, produces a protein to help regulate the life cycle of a cell. Researchers found that some people with ALS have mutations in this gene and that the mutations may interfere with nerve cell health.

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Researchers at the University of Maryland School of Medicine (UMSOM) have received a $5 million federal grant to pool genomic information from existing and new datasets – predominantly in African and African American populations -- in order to calculate the risk of developing specific diseases. They will use sophisticated modeling and genetic datasets to calculate the risk, known as a polygenic risk score, with an emphasis on studying people from different ancestries.

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Researchers find an increase in inflammatory molecules in serum and cerebrospinal fluid of C90RF72 patients, informing future anti-inflammatory therapies.

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The University of Texas MD Anderson Cancer Center’s Research Highlights provides a glimpse into recently published studies in basic, translational and clinical cancer research from MD Anderson experts. Current advances include a new combination therapy for acute myeloid leukemia (AML), a greater understanding of persistent conditions after AML remission, the discovery of a universal biomarker for exosomes, the identification of a tumor suppressor gene in hepatocellular carcinoma (HCC) and characterization of a new target to treat Clostridioides difficile (C. difficile) infections.

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Scientists created a potentially powerful new strategy for treating cystic fibrosis and potentially other diseases; it involves small, nucleic acid molecules called oligonucleotides that can correct some of the gene defects that underlie CF but are not addressed by existing modulator therapies.

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On the outside, animals often appear bilaterally symmetrical with mirror-image left and right features.

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Researchers Develop More Reliable Rapid Tests for COVID-19 Public Release Date: 15-Jun-2021 00:00:00 US Eastern Time (24hr) Research News Release Contact Person: Deborah Kotz Contact Phone: 410-706-4255 Contact E-mail: Journal: Nature Protocols DOI: 10.1038/s41596-021-00546-w Funder: Grant Number(s): Meeting: Primary Keyword: Medicine/Health Keywords: Medicine/Health -> Diagnostics Medicine/Health -> Infectious/Emerging Diseases Subtitle: Tests Use Innovative Techniques That Improve Accuracy Rivaling Gold Standard PCR Test Summary: Researchers at the University of Maryland School of Medicine (UMSOM) have developed two rapid diagnostic tests for COVID-19 that are nearly as accurate as the gold-standard test currently used in laboratories. Unlike the gold standard test, which extracts RNA and uses it to amplify the DNA of the virus, these new tests can detect the presence of the virus in as little as five minutes using different methods.

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Leading scientist known for working to complete the human genome will join UCSC faculty; Karen Miga is a longtime Genomics Institute researcher, recently named “one to watch” by the journal Nature.

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While best known as the code for genetic information, DNA is also a nutrient for specialised microbes. An international team of researchers led by Kenneth Wasmund and Alexander Loy from the University of Vienna has discovered several bacteria in sediment samples from the Atlantic Ocean that use DNA as a food source.

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Researchers show that polymerase theta can efficiently convert RNA sequences back into DNA, a feat more common in viruses than eukaryotic cells.

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The prevalence of genetic mutations associated with breast cancer in Black and white women is the same.

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.Researchers from the University of Maryland School of Medicine (UMSOM) and their colleagues found that nearly 20 percent of patients with unexplained sudden cardiac death – most of whom were under age 50 – carried rare genetic variants. These variants likely raised their risk of sudden cardiac death.

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DALLAS – June 9, 2021 – A phenomenon in which an RNA named NORAD drives a protein named Pumilio to form liquid droplets in cells, much like oil in water, appears to tightly regulate the activity of Pumilio. A new study led by UT Southwestern scientists suggests that such RNA-driven “phase separation,” in turn, protects against genome instability, premature aging, and neurodegenerative diseases, and may represent a previously unrecognized way for RNAs to regulate cellular processes.

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Meiosis is a specialized cell division process required to generate gametes, the reproductive cells of an organism. During meiosis, paternal and maternal chromosomes duplicate, pair, and exchange parts of their DNA in a process called meiotic recombination. In order to mediate this exchange of genetic material, cells introduce double strand breaks (DSBs) into their chromosomal DNA. Scientists from the lab of Franz Klein from the Department of Chromosome Biology at the Max Perutz Labs, a joint venture of the University of Vienna and the Medical University of Vienna, have now discovered that cells sometimes liberate DNA fragments at sites of paired, or double, DSBs. Whilst this presents an obvious risk of germline mutations as a consequence of erroneous repair or of integration of fragments from elsewhere at break sites, it may also be a source of evolutionary diversity. The study is published as a research article in Nature.

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The new drug sotorasib reduces tumor size and shows promise in improving survival among patients with lung tumors caused by a specific DNA mutation, according to results of a global phase 2 clinical trial led by Washington University School of Medicine in St. Louis. The drug is designed to shut down the effects of the mutation, which is found in about 13% of patients with lung adenocarcinoma, a common type of non-small-cell lung cancer.

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Zhongming Zhao, PhD, MS, with The University of Texas Health Science Center at Houston (UTHealth), has been awarded nearly $4 million from the Cancer Prevention and Research Institute of Texas (CPRIT) to provide research training to help with cancer prevention.

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A 9-year-old patient of Monroe Carell Jr. Children’s Hospital at Vanderbilt is the first in the world to receive an investigational gene editing therapy for Methylmalonic Acidemia (MMA), a rare genetic disorder diagnosed at birth.

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A collection of genetic variants influences the expression of obesity-associated genes in both the brain and fat tissue, according to a new study from researchers at the University of Chicago.

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A dash of milk could make all the difference to a healthy heart as new research from the University of South Australia finds that people who regularly consume milk have a lower risk of heart disease.

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Toxicological Sciences delivers the latest research in toxicology, in areas such as clinical and translational toxicology; emerging technologies, methods, and models; and environmental toxicology.

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New treatment could help people with phenylketonuria (PKU), a genetic disorder that prevents people from metabolizing phenylalanine. Newborns are tested for PKU, which, if not diagnosed early, can have devastating effects. Patients with PKU follow a specific diet for most of their lives.

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Scientists have developed a gene drive with a built-in genetic barrier that is designed to keep the drive under control. The researchers engineered synthetic fly species that, upon release in sufficient numbers, act as gene drives that can spread locally and be reversed if desired.

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A new study analyzing the association between an individual’s genetics (genotype) and their observable characteristics resulting from the interaction of genetics and the environment (phenotype), contributes new knowledge to the understanding of human complex traits and diseases.

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Scientists have identified a novel form of Amyotrophic Lateral Sclerosis (ALS), or Lou Gehrig’s Disease, that affects children, according to an international collaborative study, “Childhood Amyotrophic Lateral Sclerosis Caused by Excess Sphingolipid Synthesis,” published May 30, 2021, in Nature Medicine. This is the first example of a mutation that perturbs a specific metabolic pathway as causative for ALS.

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Scientists have developed a toolkit that helps pave the way to a gene drive designed to stop Culex mosquitoes from spreading disease. Culex mosquitoes spread devastating afflictions stemming from West Nile virus, Japanese encephalitis virus and the pathogen causing avian malaria.

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A team at Washington University in St. Louis has developed a new brain stimulation technique using focused ultrasound that is able to turn specific types of neurons in the brain on and off and precisely control motor activity without surgical device implantation.

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DALLAS – May 28, 2021 – A study of gene activity in the brain’s hippocampus, led by UT Southwestern researchers, has identified marked differences between the region’s anterior and posterior portions. The findings, published today in Neuron, could shed light on a variety of brain disorders that involve the hippocampus and may eventually help lead to new, targeted treatments.

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A new study led by investigators at Beth Israel Deaconess Medical Center (BIDMC) provides insights into the mechanistic links between physical fitness and overall health, as well as the reasons why the same exercise can have different effects in different people.

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Each city has its own unique microbiome, a "fingerprint" of viruses and bacteria that uniquely identify it, according to a new study from an international consortium of researchers that included a team from the University of Maryland School of Medicine (UMSOM). The international project, which sequenced and analyzed samples collected from public transit systems and hospitals in 60 cities around the world, was published today in the journal Cell.