Researchers 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.
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.
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.
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 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.
Scientists have found that non-coding ‘junk’ DNA, far from being harmless and inert, could potentially contribute to the development of cancer.
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.
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.
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.
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.
The novel terminator-assisted solid-phase complementary DNA amplification and sequencing (TAS-Seq) method provides high-precision data on gene expression
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.
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.
Many disease-linked variants are declining in frequency in breeds regularly screened for the marker.
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.
Summer is here, and that means more time soaking up the sun for many of us.
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.
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 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.”
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 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.
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.
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.
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.
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.
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.
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.
Massive dataset presents unprecedented detail of genotype-to-phenotype map in Saccharomyces cerevisiae, or brewer’s yeast.
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.
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.
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 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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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…
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.
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…
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.
Researchers at Tel Aviv University have found that exposure to ultraviolet radiation from sunlight enhances romantic passion in humans.
Five-year NIH grant funds new Center for Genome Imaging @ HarvardMed, three other institutions.