Articles tagged with Human Genetics
Researchers have dated the emergence of genetic variants characteristic of modern humans to two distinct periods: one around 40,000 years ago, linked to population growth and divergence from Africa, and an older one over 100,000 years ago, reflecting the species' greatest diversity in Africa. These findings complement the mosaic nature...
Researchers used deactivated Cas9 proteins to target key segments of the human genome and synthetically trigger gene transcription. The study revealed that enhancers can send messages in both directions, but with a predominant regulatory mode where an enhancer tracks toward corresponding promoters.
Loss of the Y chromosome in white blood cells causes fibrosis in the heart, impaired heart function, and death from cardiovascular diseases in men. Men with this genetic change have an increased risk of developing age-related diseases such as cancer and Alzheimer's disease.
Researchers at Edith Cowan University have found a genetic link between human leukocyte antigens and immunotherapy side effects in non-small cell lung cancer patients. The discovery enables doctors to tailor treatment to individual patients, reducing the risk of toxicities and improving overall outcomes.
Researchers analyzed germline variants in breast cancer patients to identify their role in metastasis development. The study found that host genetic makeup contributes to metastasis through dysregulation of gene expression, promoting the dispersion of metastatic seeds and establishing a conducive environment for their growth.
Researchers at Cleveland Clinic discovered that pathogenic POLE/POLD1 genetic mutations in tumors lead to a high level of immune cell infiltration and improved response to immune checkpoint blockade therapy. The study's findings contribute to the growing list of discoveries that prove certain classes of drugs are more effective based o...
A new molecule, inosine, has been identified as a key booster of fat burning through activation of brown fat cells. Studies have shown that inosine can increase energy consumption and protect against diabetes in mice fed high-energy diets.
A KAUST-developed nanotechnology platform uses tiny iron wires that bend in response to magnetic fields to accelerate bone cell formation. Bone-forming stem cells grown on the moving substrate transform into mature bone much faster than usual, potentially paving the way for more efficient regeneration of bone.
A new study published in PLOS Biology found that IVF embryos often undergo genetic and metabolic changes that inhibit development. The researchers discovered that certain embryos enter a senescent-like state, but treating them with resveratrol can help overcome this arrest and promote further development.
A novel single-cell RNA sequencing technique, TAS-Seq, has been developed to provide higher-precision data than current methods. The new method detects more genes and identifies highly variable genes, making it a sensitive high-throughput scRNA method.
Researchers at MIT have created a new liver tissue model that identifies one molecule playing a key role in human liver regeneration. The study also reveals several other candidates that will be explored further to discover new human-specific pathways.
Researchers developed a low-cost 3D model of the brain to study SARS-CoV-2's neurological effects. The adapted virus replicates 30 times more efficiently in astrocytes than neurons, highlighting the importance of these cells in central nervous system infection.
Researchers have discovered the process of incorporating selenium into 25 specialized proteins, essential for various cellular and metabolic processes. The study provides critical insights into the workings of these vital mechanisms, which could lead to the development of new medical therapies.
Researchers at the University of Houston have made a groundbreaking discovery in repairing and regenerating heart muscle cells in mice. The technology uses synthetic mRNA to deliver mutated transcription factors, which increases the replication of cardiomyocytes. This finding has the potential to become a powerful clinical strategy for...
Researchers discuss Hepatitis D's life cycle and interactions with its host, exploring strategies for further research to combat this overlooked virus. HDV coinfects people with hepatitis B, rapidly progressing to liver cirrhosis and cancer if left untreated, with a review published in the Chinese Medical Journal.
Researchers found thalidomide to be an effective treatment for severe arteriovenous malformations (AVMs), reducing symptoms and improving quality of life in patients. The study showed a striking reduction in symptoms, with some patients experiencing complete cure after treatment.
Researchers elucidated the protease-inhibitory mechanism of A2ML1 using cryo-EM structures, shedding light on its role in severe autoimmune blistering diseases. The study improves understanding of related proteins and their function.
Researchers analyzed 16 ancient genomes from Wallacea, revealing striking differences between regions and a previously unknown ancestry contribution from Mainland Southeast Asia. The findings suggest multiple human dispersals into Wallacea and major implications for the understanding of Neolithic dispersals into Island Southeast Asia.
Researchers identify genetic determinants of immune phenotypes in type 1 diabetes, highlighting 11 genes as potential candidates for new treatments. Genetic variants affecting T-cell composition and cytokine production were found to be significantly involved in the disease.
A study found that Brazil's Salmonella vaccine for poultry contributed to the emergence of antibiotic-resistant strains. However, these resistant bacteria have not increased food poisoning cases in humans in the UK.
Researchers discovered a novel mechanism by which non-coding 7S RNA regulates mitochondrial gene expression in human cells. The study found that 7S RNA inhibits transcription via mitochondrial RNA polymerase dimerization, shedding light on the molecular basis of this process.
Researchers at Cedars-Sinai have identified a key gene, NLRP11, that plays a crucial role in the innate human immune system. Deleting this gene prevented an immune sensor from triggering an inflammatory response, highlighting its potential as a target for therapies to prevent or treat inflammatory diseases.
A new study found that microgravity analog culture profoundly affects the microbial infection process in 3-D human tissue models. This is critical for ensuring astronaut health on extended space missions and sheds light on mysterious processes of infection on Earth.
A new platform and genomic database has been developed to monitor and control multidrug-resistant bacteria, with over 500 human pathogens already available. The database aims to provide strategic information on microorganisms classified as a “critical priority” by the World Health Organization.
A gene associated with Nascimento Syndrome triggers cells' defenses against environmental attacks by modifying proteins under stress. Rad6, a master regulator of this process, helps cells adapt to stressful conditions, shedding light on the disease's progression.
Researchers discovered that chromatin entropy increases during aging, leading to epigenetic dysregulation and cellular senescence. The study found that aberrant expression of placenta-related genes is a key driver of cellular aging.
Scientists have successfully sequenced the first human genome from an individual who died in Pompeii, Italy, after the eruption of Mount Vesuvius in 79 CE. The study provides new insights into the genetic history and lives of the population, including evidence of high levels of genetic diversity across the Italian Peninsula.
A study led by Tel Aviv University researchers reveals a common mechanism underlying genetic mutations associated with autism, schizophrenia, and other neurological disorders. The discovery points to an experimental drug developed by the team as a potential treatment for these conditions.
Researchers have found that gamma delta T cells can be trained to become extreme killers by recognizing abnormal target cells. This discovery has implications for developing novel cellular therapies to treat cancer and infectious diseases.
A new study suggests that the world's first farmers did not originate from a single group but from the mixing of two groups of hunter-gatherers. The research team used deep sequencing to analyze ancient DNA and found evidence of population divergence, expansions, and admixture dates, providing a more detailed understanding of the demog...
Whole genome sequences of ancient Uruguayan Indigenous people provide a genetic snapshot of populations before European military campaigns decimated them. The results support the theory of separate migrations into South America, contradicting the idea of a single Native American race across North and South America.
A new study identifies 152 genetic variants shared across multiple psychiatric disorders, including schizophrenia and bipolar disorder. This finding could lead to the development of therapies addressing multiple disorders with one treatment.
A collaboration between researchers identified crucial minerals regulating gene expression to control tissue renewal and growth. Minerals such as silicon, magnesium, and lithium induce endochondral ossification by turning on key genes, leading to the transformation of stem cells into bone cells.
Researchers at NC State University have created a stem cell-derived model that sheds light on the effect of dopamine on gene activity in neurons, revealing gene desensitization in human cells. The study provides a blueprint for future research into the relationship between dopamine and addiction.
A gene defect among people of Inuit ancestry has been discovered, putting children at risk of dying from child vaccines or simple viral infections. The defect is found in 1 out of 1500 Inuits and can be screened for using heel prick blood test samples.
Research suggests that EMFs can cause Alzheimer's disease by building up calcium levels in brain cells. This increase leads to changes in the brain, which develop conditions for Alzheimer's. The study highlights the importance of reducing EMF exposure to prevent or delay the onset of Alzheimer's.
A recent study on the Maniq population found they exhibit high levels of genetic differentiation, similar to other isolated populations. The researchers also discovered that the Maniq retain a unique hunter-gatherer lifestyle and Hòabìnhian-related ancestry, setting them apart from other Southeast Asian groups.
The article highlights the need to move beyond continental ancestry categories in research and medicine, as they can perpetuate medical stereotypes and exacerbate health disparities. Instead, researchers are adopting a multidimensional approach to genetic ancestry, one that reflects continuous variation and historical depth.
A new study by an international team of scientists links early human habitats to past climate shifts using a supercomputer model and fossil records. The research suggests that climate change played a central role in determining where different hominin groups lived and their remains were found.
Researchers analyzed genomic profiles of over one million cells from 1,000 people, identifying a link between specific genes and immune cell types in autoimmune diseases. The discovery could lead to tailored treatments and refine clinical trials.
A new technique called Operational Genomic Units (OGU) allows for improved resolution and simplicity in analyzing microbiome samples. By using individual genomes as basic units, researchers can pinpoint biologically relevant characteristics such as age and sex with greater accuracy.
A new study by Princeton University researchers reveals that macrophages, a type of immune cell, are crucial in the early immune response to SARS-CoV-2. The study used humanized mice with human lung tissue and blood stem cells to investigate the role of macrophages and identified specific genes associated with an effective antiviral re...
A multidisciplinary team analyzed ancient DNA from the Carpathian Basin to reveal clues about the Avars' origins. The research found that the Avar elites had ancestry from Northeast Asia and the North Caucasus, suggesting a rapid trans-Eurasian migration
Researchers fill in gaps in Human Reference Genome, discovering repetitive sections are a major source of human variation and genetic diversity. The Telomere-2-Telomere project reveals complex architectural features with significant consequences for understanding human evolution and biological function.
The T2T consortium's completed human genome has shown significant improvements in DNA sequencing accuracy, correcting tens of thousands of errors and revealing millions of genetic variations. This new reference genome can support the analysis of over 200 genes of medical relevance, potentially propelling research into genetic disorders.
Ancient genomes from 39 archaeological sites indicate that Xinjiang was settled by people with central and eastern Eurasian Steppe ancestry during the Bronze Age. The region received an influx of East and Central Asian ancestry later, resulting in genetically mixed populations throughout the Iron Age.
A self-contained experiment is being sent to the International Space Station to investigate stress and DNA damage caused by space travel. The goal is to determine if genomic damage experienced during space travel is linked to the silencing of a specific gene, beta-arrestin1.
A report by the British Pharmacological Society and Royal College of Physicians recommends integrating pharmacogenomic testing to ensure medicines work safely and effectively for individual patients. The UK is a world leader in genomic medicine, and expanded testing would further demonstrate this leadership.
A new Brazilian database of whole-genome sequences brings diverse genetic information to international databases, shedding light on the genetics of aging and disease in Brazil's elderly population. The study identified over 2 million novel genetic variants, providing insights into the health and well-being of older adults.
A recent study found that genetic changes in dogs' brain tissues are primarily about the number of genes affected rather than their function. The researchers discovered that approximately 3,500 genes were differentially expressed between young and old dogs, with most genes showing reduced activity in older animals.
Researchers found that at least 17.7% of regulatory regions contain more than one causal variant, suggesting a weaker effect of individual variants on human traits. The study's findings challenge the long-held assumption of a single causal genetic variant underlying complex phenotypes.
Researchers discovered that an inorganic polyphosphate released by nerve cells contributes to the death of motor neurons in people with ALS and frontotemporal dementia. The study found that lowering levels of this toxin may be an innovative therapeutic strategy for diverse types of ALS/FTD.
A new protein called NDF has been discovered to enhance gene activation and may be involved in diseases like cancer. Found in all human tissues, NDF works by stimulating RNA polymerase elongation, a key step in gene expression.
The placenta plays an active role in transferring vitamin D to the fetus during pregnancy, according to a new study. The research found that the placenta takes up vitamin D through endocytosis, which enables it to deliver this essential nutrient to the developing fetus.
A new Michigan Medicine study suggests that genes from oceanic bacteria have entered the human gut microbiome, enabling digestion of seaweed polysaccharides. The research found that these genes are more common than previously recognized and are linked to the ability to process certain seaweed-derived sugars.
Researchers have discovered that bioprosthetic heart valve patients develop an immune response against foreign sugars in the valves, leading to calcification and deterioration. By genetically engineering these sugars out of the valves, durability can be increased, offering a potential solution for patients.
A recent study by La Jolla Institute for Immunology researchers has identified new subsets of CD4+ 'helper' T cells that are linked to autoimmune disease risk. The team used single-cell RNA sequencing to compare gene expression in over 1 million CD4+ T cells from 89 healthy donors, revealing sex-based differences in immune cell functio...
A study by Arizona State University shows that certain proteins can act as efficient electrical conductors, outperforming DNA-based nanowires in conductance. The protein nanowires display better performance over long distances, enabling potential applications for medical sensing and diagnostics.
Researchers created largest human genealogy by combining thousands of modern and ancient genomes across various datasets. This unified genealogy offers insight into key events in human history, including the timing and geographical locations of migration events like the out-of-Africa migration.
A COVID-19 genetic risk variant inherited from Neandertals reduces the risk of contracting HIV by 27%. This variant is associated with fewer CCR5 receptors, which can lower the risk of HIV infection.