Feature Channels: Genetics

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Study could help physicians choose care path for some cancer patients.

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RNA splicing is a major underlying factor that links mutations to complex traits and diseases, according to an exhaustive analysis of gene expression in whole genome and cell line data by scientists from the University of Chicago and Stanford.

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A new study led by researchers at the University of Minnesota and Nantes University Hospital in France shows that the bacteria in people’s gut may predict their risk of life-threatening blood infections following high-dose chemotherapy.

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A University of Wisconsin-Madison researcher who studies the most common genetic intellectual disability has used an experimental drug to reverse — in mice — damage from the mutation that causes the syndrome. The condition, called fragile X, has devastating effects on intellectual abilities.

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Pinellas County a Model for Mosquito-Borne Disease Surveillance, Scientists Unravel the Genetic Evolution of Zika Virus, Worm Infection Counters Inflammatory Bowel Disease and more in the Infectious Diseases News Source

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While technological advances have made it easier to map our microbiomes and metabolomes, these studies typically take too long for that data to be medically useful. Researchers at the University of California San Diego Center for Microbiome Innovation used the 2016 San Diego Fermentation Festival as a test case for a novel rapid response system. In the study, published in mSystems, the team collected samples, analyzed data and reported conclusions in an unprecedented 48 hours.

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The Genetics Society of America (GSA) and the Editorial Board of the journal GENETICS are pleased to announce the winners of the first Centennial Award for outstanding articles published in GENETICS in 2015. The awards were inaugurated just this year in celebration of the 100th anniversary of GENETICS. Three exceptional articles are recognized from three categories: quantitative genetics, molecular genetics, and population and evolutionary genetics. Prizes for the lead authors of each article include subsidized attendance at The Allied Genetics Conference, an integrated GSA meeting that brings together researchers from the C. elegans, ciliate, Drosophila, mouse, yeast, zebrafish, and population, evolutionary, & quantitative genetics communities.

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Columbia University researchers have found evidence in mice that, for some types of autism, gastrointestinal problems may originate from the same genetic changes that lead to the behavioral and social characteristics of the condition.

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UCLA biologists report in a new study that a species of foxes living on six of California’s Channel Islands have a surprising absence of genetic variation. The research, published today in the Cell Press journal Current Biology, provides a complete genome sequence for a small population of the endangered animals, which have been confined to the islands for thousands of years.

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How easily did life arise on Earth, how likely is it on other planets? A new experiment strongly supports the idea that very early life coding molecules, ancestors of RNA and DNA, arose in primordial puddles with relative ease and speed, and not necessarily just in rarer fiery cataclysms.

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Researchers at UMass Medical School have identified a new molecular pathway critical for maintaining the smooth muscle tone that allows the passage of materials through the digestive system. This finding, based on studying calcium ion-controlled pathways in mice, may lead to new treatments for a host of digestive disorders ranging from common gastroesophageal reflux disease (GERD), to swallowing disorders, incontinence and pancreatitis. Details of the study were published in Nature Communications.

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A team of researchers at Sinai Health System's Lunenfeld-Tanenbaum Research Institute (LTRI) and University of Toronto's Donnelly Centre has developed a new technology that can stitch together DNA barcodes inside a cell to simultaneously search amongst millions of protein pairs for protein interactions. The paper will be published today in the journal Molecular Systems Biology.

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Columbia Engineering-led team reports achieving real-time single molecule electronic DNA sequencing at single-base resolution using a protein nanopore array. The team includes researchers from Columbia University, Genia Technologies (Roche), Harvard University, and the National Institute of Standards and Technology. The work sets the stage for revolutionary, cost-effective genetic diagnostic platforms with unprecedented potential for precision medicine. (PNAS, 4/18/2016)

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RAS genes are mutated in more than 30 percent of human cancers and represent one of the most sought-after cancer targets for drug developers. However, this goal has been elusive because of the absence of any drug-binding pockets in the mutant RAS protein. A new study published in the April 20 issue of the journal Cell by researchers at the Icahn School of Medicine at Mount Sinai led by E. Premkumar Reddy, PhD, has identified a new mechanism for targeting this important cancer gene.

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An eight-year-long accrual and analysis of the whole genome sequences of healthy elderly people, or “Wellderly,” has revealed a higher-than-normal presence of genetic variants offering protection from cognitive decline, researchers from the Scripps Translation Science Institute reported.

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Thanks to combination antiretroviral therapies, many people with HIV can expect to live decades after being infected. Yet doctors have observed these patients often show signs of premature aging. Researchers at University of California San Diego School of Medicine and the University of Nebraska Medical Center have applied a highly accurate biomarker to measure just how much HIV infection ages people at the cellular level — an average of almost five years.

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By turning skin cells into brain neurons, researchers at the Icahn School of Medicine at Mount Sinai have identified that certain tiny molecules aiding in gene expression, known as microRNAs (miRNAs), are under-expressed in the brains of the 14 schizophrenia patients they studied.

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Columbia researchers have discovered a new neurodevelopmental syndrome and the genetic mutations that cause it.

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It has been disorienting to the scientific and medical community as to why different subtle changes in a protein-coding gene causes many different genetic disorders in different patients -- including premature aging, nerve problems, heart problems and muscle problems. no other gene works like this. According to a new study, co-authored by Binghamton University faculty Eric Hoffman, it has to do with cell “commitment.”

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Autism experts at University of California San Diego Autism Center of Excellence (ACE) at the School of Medicine will be part of the largest autism study ever undertaken in the United States – an effort to collect information and DNA from 50,000 individuals, ages 3 to 100, with the neurodevelopmental disorder.

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Early results suggest novel gene therapy is safe and effective for treatment of inherited immune disease, according to St. Jude Children’s Research Hospital and the National Institute of Allergy and Infectious Diseases.

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Bacteria can take up DNA from their environment, a skill that enables them to acquire new genes for antibiotic resistance or to escape the immune response. Scientists have now mapped the genes that are consistently controlled during DNA uptake in strep bacteria and allow drug resistance to spread.

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Using a novel method, Whitehead Institute researchers have determined how mutations that are not located within genes are identified through genome-wide association studies (GWAS) and can contribute to sporadic Parkinson’s disease, the most common form of the condition. The approach could be used to analyze GWAS results for other sporadic diseases with genetic causes, such as multiple sclerosis, diabetes, and cancer.

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The work of University of Adelaide researchers is shedding new light on the evolution of what are believed to be the largest bears that ever walked the Earth.

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Two previously unrecognized genetic markers may predict whether breast cancer patients would benefit from chemotherapy followed by tamoxifen, according to preclinical research from Roswell Park Cancer Institute (RPCI), in collaboration with the cooperative research group SWOG and St. Jude Children’s Research Hospital. The results of this research will be presented at the American Association for Cancer Research (AACR) Annual Meeting 2016, to be held April 16-20 in New Orleans.

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Latest analysis shows that human limbs share a genetic programme with the gills of cartilaginous fishes such as sharks and skates, providing evidence to support a century-old theory on the origin of limbs that had been widely discounted.

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Cancer is rarely the result of a single mutation in a single gene. Rather, tumors arise from the complex interplay between any number of mutually exclusive abnormal changes in the genome, the combinations of which can be unique to each individual patient. To better characterize the functional context of genomic variations in cancer, researchers at University of California San Diego School of Medicine and the Broad Institute developed a new computer algorithm they call REVEALER.

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One in 5,000 babies is born missing a small amount of genetic material from the tip of chromosome 1, a region called 1p36. Missing genes in the 1p36 region is a relatively common cause of intellectual disability. These children may also have delayed development, seizures, heart and kidney defects, and problems with vision and hearing. The number and severity of these medical conditions varies greatly among children with 1p36 deletions. Scientists think that one reason for this variability is that the genes that are missing from the 1p36 region are not the same in each individual. Knowing which genes are actually involved in the development of this syndrome would help physicians predict the type of medical conditions a child with a 1p36 deletion might encounter and would make it easier to create individualized care plans for these patients. In a paper published today in the American Journal of Human Genetics, a multidisciplinary team including Baylor College of Medicine researchers has

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A new UCLA study suggests that the virus possesses the ability to mutate rapidly, allowing the current outbreak to spread swiftly around the world.

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The Medical Genomics Laboratory at UAB is expanding its technological array with a new panel of diagnostic tests for genetic diseases known as neurofibromatoses and rasopathies, using the technique called customized deep-coverage, next-generation sequencing or NGS.

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Suppose you were trying to design a vaccine to combat next season's influenza virus. Having a detailed map that tells you exactly how various strains of the flu bug will evolve would be extremely helpful.

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Whether a creature is a worm, a fly, a mouse, or a human, death inevitably awaits. And not only do these organisms share a common fate, but also, according to a new study, they may share some of the specific mechanisms of mortality. The researchers found that in all four species, there are 46 genes regulated by the same family of "FOXO" proteins known to be central in aging and longevity.

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A syndrome combining intellectual disability, epilepsy and hypotonia results from the failure of a single gene.

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New preclinical research provides support to a drug that has been repurposed to possibly treat a rare and extremely disabling genetic bone disease, particularly in children. In that disease, fibrodysplasia ossificans progressiva (FOP), a mutation triggers bone growth in muscles, alters skeletal bone formation, and limits motion, breathing, and swallowing, among a host of progressive symptoms.

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Researchers led by Ludwig Cancer Research scientist Richard Kolodner have developed a new technique for sussing out the genes responsible for helping repair DNA damage that, if left unchecked, can lead to certain cancers.

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UM College of Arts & Sciences psychology researchers find that dopamine genes could shine a light on early communication.

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Computer model sheds light on how male homosexuality remains present in populations throughout the ages.

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In a recent study, Columbia researchers described a new mouse model featuring a combination of genetic and environmental risk factors that can trigger the compulsive restriction of food intake seen in patients with anorexia nervosa.

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Today, GE Ventures and Mayo Clinic announced the launch of Vitruvian Networks, Inc., an independent platform company committed to accelerating access to cell and gene therapies through advanced, cloud-ready software systems and manufacturing services.

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Genetic attribution lessened stereotypical judgements of homosexuality, gay marriage.

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Reporting in the journal Molecular Cell, the scientists determined that one prominent long non-coding RNA may be a “red herring,” with no evident biological role to play—whereas the DNA from which it originates does perform an important function, as an “enhancer” that stimulates the expression of an important protein-coding gene nearby.

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Researchers have shed new light on how the structure of regulatory sequences in DNA is packaged in a cell. This work has implications for better understanding the role that gene sequences called enhancers play within our DNA for governing gene activity.

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Sequencing the genomes of hundreds of strains of the wine yeast S. cerevisiae has revealed little genetic diversity and high levels of inbreeding. In many cases, yeast strains sold by different companies were almost genetically identical. The results, published in the April issue of G3: Genes|Genomes|Genetics, a publication of the Genetics Society of America, suggest that winemakers attempting to develop improved wine yeasts will need to look to creating hybrids with more exotic strains.

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How our billion-year-old cousin, baker's yeast, can reveal -- more reliably than leading algorithms -- whether a genetic mutation is actually harmful.

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23andMe, Inc., the leading personal genetics company, today announced that the National Institutes of Health (NIH) has funded a promising new study by scientists at 23andMe that could help alleviate some of the existing disparities in genetic research between people of European ancestry and people of African, Latino and Asian ancestry.

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Vanderbilt University Medical Center has entered into a strategic research agreement with Celgene Corporation, a biopharmaceutical company based in Summit, New Jersey.

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Using high-speed DNA sequencing tools, pediatric researchers have identified a new syndrome that causes intellectual disability (ID). Drawing on knowledge of the causative gene mutation, the scientists’ cell studies suggest that an amino acid supplement may offer a targeted treatment for children with this condition.

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Wistar announces the appointment of Kavitha Sarma, Ph.D., as assistant professor in Wistar’s Gene Expression and Regulation Program.

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In a new study published in Scientific Reports, scientists at Case Western Reserve University School of Medicine have successfully characterized the mutational landscapes of glycosylation-associated genes in colon cancer, identifying three glycosyltransferases as significant mutational targets in CRC.

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The first largescale study of ancient DNA from early American people has confirmed the devastating impact of European colonisation on the Indigenous American populations of the time.