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Current Mutations News and Events, Mutations News Articles.
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Recurrent GBM brain tumors with few mutations respond best to immunotherapy
New insights from a team led by Duke's Preston Robert Tisch Brain Tumor Center provide potential answers about why immunotherapies have limited success against brain tumors. The team found that recurring glioblastoma tumors with very few mutations are far more vulnerable to immunotherapies than similar tumors with an abundance of mutations. (2021-01-13)

New molecular structures associated with ALS
Researchers from the University of Seville and the University of Pavia have identified a link between Amyotrophic Lateral Sclerosis (ALS) and the accumulation of DNA-RNA hybrids in the genome. The accumulation of these hybrids causes increased genomic damage and boosts genetic instability. This finding will make it possible to better understand the molecular basis of the disease, as well as to propose new solutions to curb it. (2021-01-13)

Evolution: Speciation in the presence of gene flow
Spatial isolation is known to promote speciation -- but researchers at Ludwig-Maximilians-Universitaet (LMU) in Munich have now shown that, at least in yeast, the opposite is also true. New ecological variants can also evolve within thoroughly mixed populations. (2021-01-13)

Study finds neglected mutations may play important role in autism spectrum disorder
Mutations that occur in certain DNA regions, called tandem repeats, may play a significant role in autism spectrum disorders, according to research led by Melissa Gymrek, assistant professor in the UC San Diego Department of Computer Science and Engineering and School of Medicine. The study, which was published in Nature on Jan. 14, was co-authored by UCLA professor of human genetics Kirk Lohmueller and highlights the contributions these understudied mutations can make to disease. (2021-01-13)

Can a mother's stress impact children's disease development?
A University of Cincinnati researcher finds that stress on an expectant mother could affect her baby's chance of developing disease -- perhaps even over the course of the child's life. (2021-01-11)

Advances in understanding autism, based on "mosaic" mutations
Two studies in today's Nature Neuroscience, led by researchers at Boston Children's Hospital, Brigham and Women's Hospital (BWH), and Harvard Medical School (HMS), implicate mosaic mutations arising during embryonic development as a cause of autism spectrum disorder (ASD). The findings open new areas for exploring the genetics of ASD and could eventually inform diagnostic testing. (2021-01-11)

Researchers uncover a potential treatment for an aggressive form of lung cancer
DALLAS - Jan. 5, 2021 - Researchers at the Children's Medical Center Research Institute at UT Southwestern (CRI) have discovered a new metabolic vulnerability in a highly aggressive form of non-small cell lung cancer (NSCLC). These findings could pave the way for new treatments for patients with mutations in two key genes - KRAS and LKB1. Patients whose tumors contain both of these mutations, known as KL tumors, have poor outcomes and usually do not respond to immunotherapy. (2021-01-05)

New mutations in malaria parasite encourage resistance against key preventive drug
In the ongoing arms race between humans and the parasite that causes malaria, Taane Clark and colleagues at the London School of Hygiene and Tropical Medicine (LSHTM) report that new mutations that enhance resistance to a drug used to prevent malaria in pregnant women and children are already common in countries fighting the disease. The new results are published Dec. 31 in PLOS Genetics. (2020-12-31)

Common brain malformation traced to its genetic roots
Researchers at Washington University School of Medicine in St. Louis have shown that Chiari 1 malformation can be caused by variations in two genes linked to brain development, and that children with large heads are at increased risk of developing the condition. (2020-12-28)

New mammal reference genome helps ID genetic variants for human health
A new reference genome assembly identified more than 85 million genetic variants in the rhesus macaque, the largest database of genetic variation for any one nonhuman primate species to date. (2020-12-23)

Scientists identify new gene involved in autism spectrum disorder
UT Southwestern scientists have adapted a classic research technique called forward genetics to identify new genes involved in autism spectrum disorder (ASD). In a study published this week in eLife, the researchers used this approach in mice to find one such gene called KDM5A. (2020-12-23)

Scientists pinpoint molecular cause for severe disorder in children
A team of scientists from the University of Ottawa have opened a window into the cause of a rare genetic disorder that causes mortality in young children. (2020-12-22)

Diversity, severity of autism symptoms linked to mutation locations
In children with certain autism mutations, the diversity and severity of symptoms are often related to the identity and properties of gene units, called exons, targeted by the mutations. (2020-12-22)

Researchers identify a rare genetic bone disorder through massive sequencing methods
Researchers of the Cell Biology and Physiology-LABRET group of the University of Malaga (UMA), together with the Networking Biomedical Research Center in Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), have described a new genetic skeletal disorder based on a precision medicine strategy. (2020-12-21)

The far-reaching effects of mutagens on human health
Mutagenic threats to a cell's subtle machinery may be far more widespread than previously appreciated. In a new study, Michael Lynch and his colleagues demonstrate that DNA mutation itself may represent only a fraction the health-related havoc caused by mutagens. The study highlights the ability of mutagenic compounds to also affect the process of transcription, during which a DNA sequence is converted (or transcribed) to mRNA, an intermediary stage preceding translation into protein. (2020-12-21)

Medical oddity reveals unheard-of 'immunity gene' mutations and new way to screen them
Researchers baffled by an infant's rare encephalitis case unusual in children found unheard-of mutations and a new way to examine the 'immunity gene.' (2020-12-20)

Cancer: Tumor driver promoting EMT, metastasis and resistance to therapy
Publication in Nature: researchers at the Université libre de Bruxelles (ULB) identify, for the first time, the functions of FAT1, one of the most frequently mutated cancer gene drivers. They uncover that FAT1 mutations promotes invasive features, metastasis and resistance to commonly used anti-cancer drugs, and discover new therapy for FAT1 mutated cancers. (2020-12-16)

Cancer researchers identify potential new class of drugs to treat blood and bone marrow cancers
CLEVELAND - A new study by researchers in Cleveland Clinic's Taussig Cancer Institute and Lerner Research Institute describes a novel class of targeted cancer drugs that may prove effective in treating certain common types of leukemia. The results first appeared online in Blood Cancer Discovery. (2020-12-15)

Novel genomic tools increase the accuracy of breast cancer risk assessment
Findings from the FinnGen study encompassing 120,000 women indicate that inherited breast cancer risk should be assessed in an increasingly comprehensive manner. Currently, only individual gene mutations are taken into consideration in breast cancer therapy and prevention. The study demonstrates that more extensive genomic data can be used to identify women who are at high risk of breast cancer with considerably greater accuracy. Such knowledge can especially improve risk assessment among the close relatives of breast cancer patients. (2020-12-14)

Research dispels fears human stem cells contain cancer-causing mutations
Pioneering new research has made a pivotal breakthrough that dispel concerns that human stem cells could contain cancer-causing mutations. (2020-12-14)

New combination therapy could help fight difficult-to-treat cancers with common mutations
UCLA scientists describe a new combination therapy that suppresses the MAPK pathway by holding cancer-driving proteins in a death grip. This combination of two small molecules has the potential to treat not only BRAF mutated melanoma but also additional aggressive subtypes of cancers, including melanoma, lung, pancreatic and colon cancers that harbor common mutations in cancer genes called RAS or NF1. (2020-12-14)

Predicting heart disease from the skin
Jefferson researchers find that the genetic underpinnings of a skin disorder at birth indicate future heart problems. (2020-12-10)

Researchers create framework to help determine timing of cancer mutations
UCLA researchers studying cancer evolution have created a framework to help determine which tool combinations are best for pinpointing the exact timing of DNA mutations in cancer genomes. (2020-12-07)

Quick and sensitive identification of multidrug-resistant germs
Researchers from the University of Basel have developed a sensitive testing system that allows the rapid and reliable detection of resistance in bacteria. The system is based on tiny, functionalized cantilevers that bend due to binding of sample material. In the analyses, the system was able to detect resistance in a sample quantity equivalent to 1-10 bacteria. (2020-12-07)

Study reveals surprising benefit of clonal hematopoiesis in allogeneic transplants
Clonal hematopoiesis (CH) is a recently identified condition in which mutations associated with blood cancers are detected in the blood of some healthy, usually older, individuals who don't have cancer. People with CH, while asymptomatic, have an elevated risk of developing blood cancers and other negative health outcomes, including heart attacks and strokes. (2020-12-05)

Natural selection plays major role in an organism's capacity to evolve and adapt
It's widely assumed within the evolutionary biology field that weak selection provides an advantage to an organism's ability to evolve. But new research, published in the journal Science, may offer the first experimental proof that strong selection pressure enhances an organism's evolvability, by boosting robustness. (2020-12-03)

Native American ancestry associated with more mutations in EGFR gene among Latin Americans
Among patients with lung cancer from Latin America, genomic and ancestry analyses revealed that Native American ancestry was associated with increased mutations in the EGFR gene, independent of smoking status. (2020-12-02)

Warning signs over effectiveness of HIV 'wonder drug' in sub-Saharan Africa
Dolutegravir, the current first-line treatment for HIV, may not be as effective as hoped in sub-Saharan Africa, suggests new research published on World AIDS Day. The study finds that this so-called 'wonder drug' may be less effective in patients resistant to older drugs. (2020-12-01)

Tweaking carotenoid genes helps tomatoes bring their a-game
Researchers led by the University of Tsukuba demonstrated that Target-AID gene editing technology can be used to simultaneously introduce single-base changes into multiple genes in tomatoes. Using this technique, the researchers altered three genes associated with carotenoid accumulation, resulting in elevated levels of carotenoids, particularly lycopene, in the resulting tomato lines. This technology will allow tomato breeders to introduce multiple advantageous gene changes into elite commercial cultivars, bypassing lengthy back-crossing steps between generations. (2020-12-01)

LSU Health New Orleans discovers drug development target for retinal dystrophies
A team of LSU Health New Orleans researchers reports for the first time that deleting one of the inhibitors of the RPE65 gene in a mouse model that carries a human disease mutation prevents degeneration of cone photoreceptors that are used for daytime high-resolution color vision. (2020-12-01)

Telomere shortening protects against cancer
Researchers have found the first evidence that telomere shortening is not just a sign of aging, but a key component of the body's cancer prevention system. (2020-12-01)

More evidence that cellular 'death by iron' could be promising avenue of cancer treatment
Genetic mutations that give cancers a metabolic boost may also leave them vulnerable to drugs that promote a particular form of cell death, Sloan Kettering Institute researchers have found. (2020-12-01)

New method identifies adaptive mutations in complex evolving populations
A research team co-led by a scientist at the Hong Kong University of Science and Technology has developed a method to study how HIV mutates to escape the immune system in multiple patients, which could inform HIV vaccine design. (2020-11-30)

Scientists develop new gene therapy for eye disease
Scientists from Trinity College Dublin have developed a new gene therapy approach that offers promise for one day treating an eye disease that leads to a progressive loss of vision and affects thousands of people across the globe. The study, which involved a collaboration with clinical teams in the Royal Victoria Eye and Ear Hospital and the Mater Hospital, also has implications for a much wider suite of neurological disorders associated with ageing. (2020-11-26)

SARS-CoV-2 mutations do not appear to increase transmissibility
None of the mutations currently documented in the SARS-CoV-2 virus appear to increase its transmissibility in humans, according to a study led by UCL researchers, published in Nature Communications. (2020-11-25)

COVID19 A research of Politecnico di Milano discovering the secrets of viral sequences
Use of an algorithm for computing viral mutations homogeneously across sources, using cloud computing. (2020-11-23)

Scientists regenerate skin with stem cells to see how DNA defects in kids cause cancer
Physicians and scientists at Cincinnati Children's Hospital Medical Center used new stem cell technology to regenerate and study living patient-specific skin in the lab, giving them a precise close up view of how inherited DNA defects cause skin damage and deadly squamous cell carcinoma in children and young adults with Fanconi anemia (FA). (2020-11-23)

BICRA gene provides answers to patients, doctors and scientists
Researchers identified the BICRA gene as a new disease gene involved in a neurodevelopmental disorder and found evidence that BICRA functions in neural development in humans and flies. (2020-11-23)

Getting it just right - the Goldilocks model of cancer
Cancer is a disease driven by mutations that alter the way biochemical signals control cell growth, division and migration. Scientists at Duke-NUS Medical School found out that, like Goldilocks, cancer is very picky about getting rapid growth just right. (2020-11-20)

Altered 'coat' disguises fatal brain virus from neutralizing antibodies
A genetic modification in the 'coat' of a brain infection-causing virus may allow it to escape antibodies, according to Penn State College of Medicine researchers. They say testing people for this and other viral mutations may help identify patients at risk for developing a fatal brain disease. (2020-11-20)

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