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UrduResearchers at UC San Diego have used artificial intelligence-guided tools to pinpoint both a specific type of immune cell as the driver of esophageal cancer and a specific genetic variation that acts as a protective factor in African Americans.
Tag: Genetics
UCLA researcher awarded National Academy of Medicine prize for work on genetics of autism
Dr. Daniel Geschwind was awarded the National Academy of Medicine’s top annual prize in mental health in recognition of his pioneering research and leadership in autism genetics.
How environmental changes affect the shapes of RNA in living cells
The impact of environmental conditions on the dynamic structures of RNAs in living cells has been revealed by innovative technology developed by researchers at the John Innes Centre.
Down on Vitamin D? It could be the cause of chronic inflammation
World-first genetic research from the University of South Australia shows a direct link between low levels of vitamin D and high levels of inflammation, providing an important biomarker to identify people at higher risk of or severity of chronic illnesses with an inflammatory component.
Researchers discover gene that promotes muscle strength during exercise
Researchers have identified a gene that promotes muscle strength when switched on by physical activity, unlocking the potential for the development of therapeutic treatments to mimic some of the benefits of working out.
‘Junk’ DNA could lead to cancer by stopping copying of DNA
Scientists have found that non-coding ‘junk’ DNA, far from being harmless and inert, could potentially contribute to the development of cancer.
Scientists discover genes that affect the risk of developing pre-leukaemia
The discovery of 14 inherited genetic changes which significantly increase the risk of a person developing a symptomless blood disorder associated with the onset of some types of cancer and heart disease is published today in Nature Genetics. The finding, made in one of the largest studies of its kind through genetic data analysis on 421,738 people, could pave the way for potential new approaches for the prevention and early detection of cancers including leukaemia.
Awash in Potential: Wastewater Provides Early Detection of SARS-CoV-2 Virus
Scientists and physicians at UC San Diego and Scripps Research describe how wastewater sequencing provided dramatic new insights into levels and variants of SARS-CoV-2 on campus and in the broader community — a key step to public health interventions in advance of COVID-19 case surges.
Scientists discover cancer trigger that could spur targeted drug therapies
Researchers at the Department of Energy’s Oak Ridge National Laboratory have definitively linked the function of a specific domain of proteins important in plant-microbe biology to a cancer trigger in humans, knowledge that had eluded scientists for decades.
Organoids Reveal Similarities Between Myotonic Dystrophy Type 1 & Rett Syndrome
Using brain organoids, UC San Diego researchers discover mutational commonalities between muscular dystrophy type 1 and Rett syndrome, suggesting the potential of a similar treatment for both.
Novel, sensitive, and robust single-cell RNA sequencing technique outperforms competition
The novel terminator-assisted solid-phase complementary DNA amplification and sequencing (TAS-Seq) method provides high-precision data on gene expression
Sea dragons’ genes give clues to their distinctive looks
Even with plenty of fish in the sea, sea dragons stand out from the crowd. The funky, fabulous fish are bedecked with ruffly leaf-like adornments. Their spines are kinked. They’re missing their ribs and their teeth. And the responsibility of pregnancy is taken on by the males. By sequencing the genomes of two species of sea dragons, University of Oregon researchers have found genetic clues to the fish’s distinctive features: They’re missing a key group of genes found in other vertebrates. Those genes help direct the development of the face, teeth and appendages, as well as parts of the nervous system.
Scientists at Vanderbilt University Medical Center and 23andMe Find Genetic Link to People’s Ability to Move to a Musical Beat
The study, published in the journal Nature Human Behaviour, is the first large-scale genome-wide association study of a musical trait. Gordon and Lea Davis, PhD, associate professor of Medicine, both co-senior authors on the findings, along with Maria Niarchou, PhD, research instructor in the Department of Medicine and first author of the paper, co-led a team of international collaborators in novel groundwork toward understanding the biology underlying how musicality relates to other health traits.
Largest study of domestic cat DNA identifies disease-causing variants in new breeds
Many disease-linked variants are declining in frequency in breeds regularly screened for the marker.
Estimating tumor-specific total mRNA level predicts cancer outcomes
Researchers have developed a mathematical tool to estimate tumor-specific RNA levels from tumor samples with mixed cell types. Using this technique on thousands of samples found that higher mRNA levels are correlated with shorter survival.
Better understanding of DNA repair protein could lead to novel cancer therapies
Summer is here, and that means more time soaking up the sun for many of us.
Genetic study offers new insights into DCIS biology, progression
A new genetic study discovered that not all breast cancers that develop after DCIS arise from the original DCIS lesion. Roughly 1 in 5 are new cancers, genetically unrelated to the original DCIS.
Broad Spectrum of Autism Depends on Spectrum of Genetic Factors
UC San Diego researchers report significant progress in understanding how the combined effects of rare mutations and common genetic variation in determining whether a child will develop ASD and its consequential effects.
The Application of Noninvasive Prenatal Screening Using Cell-free DNA in General Risk Pregnancies – The American College of Medical Genetics and Genomics Publishes its Highly Anticipated Evidence-based Review
The American College of Medical Genetics and Genomics (ACMG) has released its second, highly anticipated systematic evidence-based review (SER): “The Application of Noninvasive Prenatal Screening Using Cell-free DNA in General Risk Pregnancies.”
Fly researchers find another layer to the code of life
A new examination of the way different tissues read information from genes has discovered that the brain and testes appear to be extraordinarily open to the use of many different kinds of code to produce a given protein.
COVID-19, MIS-C and Kawasaki Disease Share Same Immune Response
COVID-19, MIS-C and KD all share a similar underlying mechanism involving the over-activation of particular inflammatory pathways, UC San Diego study shows. Findings support novel drug targets for MIS-C.
Minerals can be key to healing damaged tissue
Every species, from bacteria to humans, is capable of regeneration. Regeneration is mediated by the molecular processes that regulate gene expression to control tissue renewal, restoration and growth.
Gene Therapy Reverses Effects of Autism-Linked Mutation in Brain Organoids
UC San Diego scientists use lab-grown human brain tissue to identify neural abnormalities in Pitt-Hopkins Syndrome and show gene therapy tools can rescue neural structure and function.
Rutgers Researcher Aims to Protect and Regenerate Corals Through Coral Genomics with $500K NSF Grant and Award-Winning Video
A Rutgers researcher will use genomics, genetics, and cell biology to identify and understand the corals’ response to heat stress conditions and to pinpoint master regulatory genes involved in coral bleaching due to global warming and climate change. The researcher and his team will use a novel gene-editing tool as a resource to knock down some gene functions with the goal of boosting the corals’ abilities to survive.
Scientists Implicate Non-Cardiac Genes in Congenital Heart Disease
UNC-Chapel Hill, Princeton, and Boston Children’s Hospital researchers show how three transcription factors inside the embryonic heart recruit the protein subunit CHD4 for their role known roles in heart health and disease.
Genetic changes differed, increased in people with Alzheimer’s disease
Inside brain cells, errors in DNA can accumulate as we age. But in patients with Alzheimer’s disease, these errors — known as somatic mutations — may build up at a faster rate.
For Neurons, Where They Begin Isn’t Necessarily Where They End
Scientists at UC San Diego School of Medicine and Rady Children’s Institute of Genomic Medicine describe novel methods for inferring the movement of human brain cells during fetal development by studying healthy adult individuals who have recently passed away from natural causes.
Experimental study provides new insights into the genetics of heritable traits
Massive dataset presents unprecedented detail of genotype-to-phenotype map in Saccharomyces cerevisiae, or brewer’s yeast.
New Research Helps Explain the Genetic Basis of Why We Look the Way We Do
Comparing features of a common laboratory fruit fly with its rarer cousin collected from Hawai’i Volcanoes National Park, UC San Diego researchers used CRISPR technology to uncover clues about how high-level control genes called Hox genes shape our appearance.
How to turn specific genes on and off
Type 1 diabetes, rheumatoid arthritis, and cancer are just some of the disorders associated with specific genes not “turning on” and “turning off” as they should.
Can’t Find Your Keys? You Need a Chickadee Brain
For the first time, researchers have shown that there is a genetic component underlying the amazing spatial memories of Mountain Chickadees. Although the genetic basis for spatial memory has been shown for humans and other mammals, direct evidence of that connection has never before been identified in birds.
Penn Medicine Awarded $9.5 Million Grant from The Warren Alpert Foundation to Increase Diversity in Genetic Counseling Programs
Penn Medicine has been awarded a $9.5 million grant from The Warren Alpert Foundation (WAF) to continue its efforts to increase diversity in genetic counseling, a field that, despite impressive leaps forward in genetic knowledge, lacks a diverse workforce.
What’s down there? WHOI study shows environmental DNA is a reliable way to learn about migration from the ocean twilight zone
The mid-ocean “twilight zone” holds the key to several tantalizing questions about the marine food web and carbon-sequestering capacity of the ocean. But studying this vast and remote area is extremely difficult.
Moving Past Conflation of Race and Genetics
Race is not genetic. Race is a social and political construct. However, the conflation of race and genetics is one way that racism persists in medicine and research.
Scientists uncover a gene involved in sexual conflict in fruit flies
Sexual conflict in fruit flies is governed by specifically wired neurons in the brain which have been pinpointed by scientists at the University of Birmingham, UK.
Ancient DNA analysis sheds light on dark event in medieval Spain
An international research team led by the University of Huddersfield’s Archaeogenetics Research Group, including geneticists, archaeological scientists, and archaeologists, has published the genome sequence of a unique individual from Islamic medieval Spain – al-Andalus – the results of which have shed light on a brutal event that took place in medieval Spain.
New cause of inherited heart condition discovered
A UCL-led research team has identified a new gene as a cause of hypertrophic cardiomyopathy, an inherited heart condition affecting one in 500 people.
2022 Rosalind Franklin Young Investigator Award Recipients Announced
The Genetics Society of America (GSA) and The Gruber Foundation are delighted to announce that 2022’s recipients of the Rosalind Franklin Young Investigator Award are Aude Bernheim, PhD, of INSERM; Kara McKinley, PhD, of Harvard University; and Viviane Slon, PhD, of Tel Aviv University.
Penn Medicine Awarded $6 Million to Advance Understanding of Human Genome Function in Health and Disease
The National Institutes of Health (NIH) has selected Penn Medicine as one of 25 award recipients across 30 sites in the United States to serve as Impact of Genomic Variation on Function (IGVF) investigators, with the goal of better understanding how genetic differences impact how human genes function, and how these variations influence human health and disease.
Prehistoric humans rarely mated with their cousins
The researchers re-analyzed previously published DNA data from ancient humans that lived during the last 45,000 years to find out how closely related their parents were.
Social support reduces genetic risk factors that can lead to alcohol use problems
A new study from the Arizona State University Department of Psychology shows that the combination of genetic predisposition to alcohol use disorders and personality type can lead to problematic drinking behaviors. Having strong social support from friends was identified as protective against excessive drinking. The work was published in the Journal of Abnormal Psychology.
MD Anderson Research Highlights for September 8, 2021
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.
Schizophrenia Study Suggests Advanced Genetic Scorecard Cannot Predict a Patient’s Fate
Researchers at the Icahn School of Medicine at Mount Sinai found that a tool commonly used in research for evaluating a person’s genetic risk for a disease, called a polygenic risk score, was no better at predicting the outcome of a schizophrenia patient’s disease over time than written reports. The results raise important questions about the use of polygenic risk scores in real-world, clinical situations, and also suggest that a doctor’s written report may be an untapped source of predictive information.
Study reveals possibility that many Japanese have undiagnosed Gitelman Syndrome
Clinical Fellow KONDO Atsushi and Professor NOZU Kandai et al. of Kobe University’s Graduate School of Medicine have estimated the prevalence of Gitelman syndrome across different ethnicities using a genome database.
Exercise May Not Offset Genetic Predisposition for Low Exercise Capacity, Impaired Insulin Sensitivity
Article title: Genetically determined exercise capacity affects systemic glucose response to insulin in rats Authors: Michael Schwarzer, Annika Molis, Christina Schenkl, Andrea Schrepper, Steven L. Britton, Lauren Gerard Koch, Torsten Doenst From the authors: “In our model of [high capacity…
Children’s Hospital of Philadelphia Researchers Develop Tools to Measure Skeletal Muscle Function in Patients with Mitochondrial Disease
Researchers successfully developed and validated a new outcome measure to monitor disease severity and progression in patients with impaired skeletal muscle function caused by mitochondrial disease. This measure, named ‘Mitochondrial Myopathy-Composite Assessment Tool’ (‘MM-COAST’), is important to identify specific skeletal muscle and neurological problems in both children and adults with mitochondrial disease and may be used to measure response to treatment interventions in future clinical trials.
Gene Messengers, Rather Than Genes, May Provide Best Disease Clues
Genes can be expressed in different ways depending on how cells process their messengers, aka splicing isoforms. Genetic mutations can damage some splicing isoforms but not others. UC San Diego School of Medicine researchers found that splicing isoforms hit by…
Genetics Determine Hypertension More in Women Than Men
Researchers from the Smidt Heart Institute suggest that, contrary to common belief, the risk of developing high blood pressure has more to do with genetics in women than in men.
Exposure to sunlight enhances romantic passion in humans
Researchers at Tel Aviv University have found that exposure to ultraviolet radiation from sunlight enhances romantic passion in humans.
The Human Genome at Super Resolution
Five-year NIH grant funds new Center for Genome Imaging @ HarvardMed, three other institutions.