Current Genetic Mutation News and Events

Current Genetic Mutation News and Events, Genetic Mutation News Articles.
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High genomic variability predicts success in desert tortoise refugees; could inform conservation
Tortoise refugees with the highest genetic variation are far more likely to survive conservation translocation than tortoises whose genetic diversity is lower, according to a new study. (2020-11-26)

Researchers have discovered new links between miscarriage and maternal genes
Researchers at the Estonian Genome Center at the University of Tartu described hitherto undiscovered associations between miscarriage and maternal genes, reveals a recent article published in the Nature Communication. (2020-11-25)

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)

First large-scale proteogenomic analysis offers insights into pediatric brain tumors
A comprehensive ''proteogenomic'' analysis of the proteins, genes, and RNA transcription involved in pediatric brain tumors has yielded a more complete understanding of these tumors, which are the leading cause of cancer-related deaths in children. The results could help physicians more accurately identify different types of tumors and methods for treating them. (2020-11-25)

Space worms experiment reveals gravity affects genes
Living at low gravity affects cells at the genetic level, according to a study of worms in space. (2020-11-25)

New wheat and barley genomes will help feed the world
An international research collaboration, including scientists from the University of Adelaide's Waite Research Institute, has unlocked new genetic variation in wheat and barley - a major boost for the global effort in breeding higher-yielding wheat and barley varieties. (2020-11-25)

Barley pan-genome: IPK scientists reach milestone on the way to 'transparent' barley
An international research team led by the Leibniz Institute of Plant Genetics and Crop Plant Research (IPK) has reached a milestone on the way to the 'transparent' barley plant. With the complete sequencing of 20 different genotypes, the scientists completed the first step in decoding the genetic information of the entire species 'barley' -- the barley pan-genome. Breeders will greatly benefit from these new findings, which have today been published in the renowned magazine Nature. (2020-11-25)

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)

CHOP researchers reverse severe lymphatic disorder in patient with Noonan syndrome
Researchers at Children's Hospital of Philadelphia (CHOP) have resolved a severe lymphatic disorder in a girl with Noonan Syndrome that had led to upper gastrointestinal bleeding, fluid collection around the lungs, and numerous surgeries that had been unable to resolve her symptoms. By identifying a genetic mutation along a pathway related to lymphatic vessel development and function, the research team was able to target the pathway using an existing drug they had used in a previous case to remodel a patient's lymphatic system. (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)

A gene mutation that protects against disease
Called PCSK9Q152H, the mutation of the PCSK9 gene was initially thought to protect against cardiovascular diseases. Recent studies reveal that it may protect against other human illnesses, mainly liver diseases. It may allow the PCSK9Q152H mutant subjects to stay in good health and live longer. (2020-11-19)

CLCN6 identified as disease gene for a severe form of lysosomal neurodegenerative disease
A mutation in the CLCN6 gene is associated with a novel, particularly severe neurodegenerative disorder. Scientists from the Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP) and the Max Delbrück Center für Molekulare Medizin (MDC), together with an international team of researchers, have now analyzed the effect of a point mutation that was found in three unrelated affected children. (2020-11-19)

Elephant genetics guide conservation
A large-scale study of African elephant genetics in Tanzania reveals the history of elephant populations, how they interact, and what areas may be critical to conserve in order to preserve genetic diversity of the species. (2020-11-19)

Children's Hospital Los Angeles conducts largest pediatric genomic COVID-19 study to date
Scientists at Children's Hospital Los Angeles analyze the largest group of genetically-sequenced Sars-CoV-2 samples to date. Their findings suggest a potential link between certain mutations and disease severity. (2020-11-19)

Cellular pathway of genetic heart disease similar to neurodegenerative disease
Research on a genetic heart disease has uncovered a new and unexpected mechanism for heart failure. This landmark discovery found a correlation between the clumping of RNA-binding proteins long linked to neurodegenerative disease and the aggregates of protein found in the heart tissue of patients with RBM20 dilated cardiomyopathy. (2020-11-18)

Non-hereditary mutation acts as natural gene therapy in patient with rare disease
Scientists at a research center supported by FAPESP identified a non-inherited mutation in blood cells from a patient with GATA2 deficiency that may have prevented bone marrow failure and other clinical manifestations. (2020-11-17)

Scientists discover new mechanism controlling brain size
International research headed by Danish Scientists has led to the discovery of a new mechanism that controls the size of our brains. The finding, which is based on studies on a rare congenital brain disease, delivers an important piece of data in our knowledge about how the human brain is formed during development. (2020-11-16)

Yale team finds way to protect genetic privacy in research
In a new report, a team of Yale scientists has developed a way to protect people's private genetic information while preserving the benefits of a free exchange of functional genomics data between researchers. (2020-11-12)

Examining impact of a point mutation in SARS-Cov-2 spike on virus transmission and pathogenicity
The current dominant variant of SARS-CoV-2, containing a D614G substitution in the spike protein, appears to have evolved to enhance transmissibility, according to a new study in human cells and animal models. (2020-11-12)

Uracil switch in SARS-CoV-2 genome alters innate immune responses
Our bodies could be inducing mutations in the COVID-19 virus that activate immune cells to increase the production of pro-inflammatory molecules. (2020-11-11)

Scientists discover possible genetic target for treating endometriosis
Michigan State University researchers have identified a potential genetic target for treating an especially painful and invasive form of endometriosis. (2020-11-11)

Swedish, Finnish and Russian wolves closely related
The Scandinavian wolf originally came from Finland and Russia, and unlike many other European wolf populations its genetic constitution is virtually free from dog admixture. In addition, individuals have migrated into and out of Scandinavia. These findings have emerged from new research at Uppsala University in which genetic material from more than 200 wolves was analysed. The study is published in the journal Evolutionary Applications. (2020-11-10)

A novel finding on Kabuki syndrome, a rare genetic disease
It has a long time since the cause of the disease has been identified: mutations of KMT2D gene codify for MLL4, a protein involved in the regulation of chromatin, which is the complex of proteins and nucleic acids contained in the nucleus of cells. However, research still has a long way to go to identify therapeutic approaches. An Italian team, coordinated by the University of Trento, has taken a step forward in this direction (2020-11-09)

New study reveals undetected rare neurodegenerative disorder that looks like Parkinson's disease
New Singapore study suggests that patients who are carriers of NIID gene mutation may also present with symptoms and signs of Parkinson's disease (PD), and respond to PD drugs. (2020-11-06)

Genetic mutation could worsen heart function in Duchenne muscular dystrophy patients
DALLAS - Nov. 4, 2020 - A mutation in the gene that causes cystic fibrosis may accelerate heart function decline in those with Duchenne muscular dystrophy (DMD), a new study by UT Southwestern researchers suggests. The findings, published online recently in the Journal of the American Heart Association, could help doctors develop new strategies to preserve heart function in this population, potentially extending patients' lives. (2020-11-04)

UConn researcher identifies genetic elements involved in heart development
Justin Cotney, assistant professor of genetics and genome sciences in the UConn School of Medicine, has identified a suite of genes and regulatory elements critical to normal heart development. (2020-11-03)

Mayo Clinic study finds 1 in 8 patients with cancer harbor inherited genetic mutations
PHOENIX, Ariz. ? Genetic testing can uncover inherited genetic mutations, and could individualize cancer therapies, improve survival, manage cancer in loved ones and push the boundaries of precision medicine. (2020-11-02)

Coronavirus mutation may have made it more contagious
A study involving more than 5,000 COVID-19 patients in Houston finds that the virus that causes the disease is accumulating genetic mutations, one of which may have made it more contagious. This mirrors a study published in July that found that around the world, viral strains with the same genetic mutation quickly outcompeted other strains. (2020-10-30)

Giving the immune system a double boost against cancer
Cancer immunotherapies are very effective for some patients, but many cancers do not respond to the currently available treatments. Researchers are developing a new approach that expands the number of treatable tumor types. (2020-10-30)

Study identifies pitfall for correcting mutations in human embryos with CRISPR
The most detailed analysis to date of CRISPR genome editing in human embryos finds a significant risk of chromosomal abnormalities when using the technique at earliest stage of human development. (2020-10-29)

Let's (not) stick together
New research led by the University of Pittsburgh's Swanson School of Engineering examines the properties of the mucus of cystic fibrosis (CF) patients and the role it plays in a pathogens' ability to survive. The new information could have important implications for CF treatment. (2020-10-28)

Scientists discover how a common mutation leads to 'night owl' sleep disorder
People with delayed sleep phase disorder are unable to fall asleep until late at night (often after 2 a.m.) and have difficulty getting up in the morning. In 2017, scientists discovered a surprisingly common mutation that causes this sleep disorder by altering a key component of the biological clock that maintains the body's daily rhythms. Now, a new study reveals the molecular mechanisms involved and point the way toward potential treatments. (2020-10-27)

Yeast study yields insights into longstanding evolution debate
In a study published Oct. 27 in the journal Cell Reports, Yale scientists show how epigenetic mechanisms contribute in real time to the evolution of a gene network in yeast. Specifically, through multiple generations yeast cells were found to pass on changes in gene activity induced by researchers. (2020-10-27)

Research news tip sheet: story ideas from Johns Hopkins Medicine
Research News Tip Sheet: Story Ideas From Johns Hopkins Medicine (2020-10-27)

Study reinforces drug's potential to treat hypertrophic cardiomyopathy
WSU research sheds new light on a molecule that may be used to treat heart conditions that can lead to stroke, heart attack and other forms of heart disease. (2020-10-27)

Illinois study tracks evolution of SARS-CoV-2 virus mutations
Since COVID-19 began its menacing march across Wuhan, China, in December 2019, and then across the world, the SARS-CoV-2 virus has taken a 'whatever works' strategy to ensure its replication and spread. But in a new study published in Evolutionary Bioinformatics, University of Illinois researchers and students show the virus is honing the tactics that may make it more successful and more stable. (2020-10-26)

Wrinkled 'super pea' could be added to foods to reduce diabetes risk
A type of wrinkled 'super pea' may help control blood sugar levels and could reduce the risk of type 2 diabetes, suggests a new study. (2020-10-26)

Targeted inhibitor of mutated KRAS gene shows promise in lung, bowel, & other solid tumors
A novel agent that targets a mutated form of the KRAS gene - the most commonly altered oncogene in human cancers and one long considered ''undruggable'' - shrank tumors in most patients in a clinical trial with manageable side effects, researchers reported today at the 32nd EORTC-NCI-AACR Symposium on Molecular Targets and Therapeutic, which is taking place online. (2020-10-25)

Cause of Alzheimer's disease traced to mutation in common enzyme
Researchers from Tokyo Metropolitan University have discovered a new mechanism by which clumps of tau protein are created in the brain, killing brain cells and causing Alzheimer's disease. A specific mutation to an enzyme called MARK4 changed the properties of tau, usually an important part of the skeletal structure of cells, making it more likely to aggregate, and more insoluble. Getting to grips with mechanisms like this may lead to breakthrough treatments. (2020-10-24)

Researchers create human airway stem cells from patients' cells
For the first time, researchers have successfully created airway basal stem cells in vitro from induced pluripotent stem cells by reprogramming blood cells taken from patients. Given that airway basal cells are defined as stem cells of the airways because they can regenerate the airway epithelium in response to injury, this study may help accelerate research on diseases impacting the airway, including COVID-19, influenza, asthma and cystic fibrosis. (2020-10-23)

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