Articles tagged with Human Genetics
Comprehensive exploration of living organisms, biological systems, and life processes across all scales from molecules to ecosystems. Encompasses cutting-edge research in biology, genetics, molecular biology, ecology, biochemistry, microbiology, botany, zoology, evolutionary biology, genomics, and biotechnology. Investigates cellular mechanisms, organism development, genetic inheritance, biodiversity conservation, metabolic processes, protein synthesis, DNA sequencing, CRISPR gene editing, stem cell research, and the fundamental principles governing all forms of life on Earth.
Comprehensive medical research, clinical studies, and healthcare sciences focused on disease prevention, diagnosis, and treatment. Encompasses clinical medicine, public health, pharmacology, epidemiology, medical specialties, disease mechanisms, therapeutic interventions, healthcare innovation, precision medicine, telemedicine, medical devices, drug development, clinical trials, patient care, mental health, nutrition science, health policy, and the application of medical science to improve human health, wellbeing, and quality of life across diverse populations.
Comprehensive investigation of human society, behavior, relationships, and social structures through systematic research and analysis. Encompasses psychology, sociology, anthropology, economics, political science, linguistics, education, demography, communications, and social research methodologies. Examines human cognition, social interactions, cultural phenomena, economic systems, political institutions, language and communication, educational processes, population dynamics, and the complex social, cultural, economic, and political forces shaping human societies, communities, and civilizations throughout history and across the contemporary world.
Fundamental study of the non-living natural world, matter, energy, and physical phenomena governing the universe. Encompasses physics, chemistry, earth sciences, atmospheric sciences, oceanography, materials science, and the investigation of physical laws, chemical reactions, geological processes, climate systems, and planetary dynamics. Explores everything from subatomic particles and quantum mechanics to planetary systems and cosmic phenomena, including energy transformations, molecular interactions, elemental properties, weather patterns, tectonic activity, and the fundamental forces and principles underlying the physical nature of reality.
Practical application of scientific knowledge and engineering principles to solve real-world problems and develop innovative technologies. Encompasses all engineering disciplines, technology development, computer science, artificial intelligence, environmental sciences, agriculture, materials applications, energy systems, and industrial innovation. Bridges theoretical research with tangible solutions for infrastructure, manufacturing, computing, communications, transportation, construction, sustainable development, and emerging technologies that advance human capabilities, improve quality of life, and address societal challenges through scientific innovation and technological progress.
Study of the practice, culture, infrastructure, and social dimensions of science itself. Addresses how science is conducted, organized, communicated, and integrated into society. Encompasses research funding mechanisms, scientific publishing systems, peer review processes, academic ethics, science policy, research institutions, scientific collaboration networks, science education, career development, research programs, scientific methods, science communication, and the sociology of scientific discovery. Examines the human, institutional, and cultural aspects of scientific enterprise, knowledge production, and the translation of research into societal benefit.
Comprehensive study of the universe beyond Earth, encompassing celestial objects, cosmic phenomena, and space exploration. Includes astronomy, astrophysics, planetary science, cosmology, space physics, astrobiology, and space technology. Investigates stars, galaxies, planets, moons, asteroids, comets, black holes, nebulae, exoplanets, dark matter, dark energy, cosmic microwave background, stellar evolution, planetary formation, space weather, solar system dynamics, the search for extraterrestrial life, and humanity's efforts to explore, understand, and unlock the mysteries of the cosmos through observation, theory, and space missions.
Comprehensive examination of tools, techniques, methodologies, and approaches used across scientific disciplines to conduct research, collect data, and analyze results. Encompasses experimental procedures, analytical methods, measurement techniques, instrumentation, imaging technologies, spectroscopic methods, laboratory protocols, observational studies, statistical analysis, computational methods, data visualization, quality control, and methodological innovations. Addresses the practical techniques and theoretical frameworks enabling scientists to investigate phenomena, test hypotheses, gather evidence, ensure reproducibility, and generate reliable knowledge through systematic, rigorous investigation across all areas of scientific inquiry.
Study of abstract structures, patterns, quantities, relationships, and logical reasoning through pure and applied mathematical disciplines. Encompasses algebra, calculus, geometry, topology, number theory, analysis, discrete mathematics, mathematical logic, set theory, probability, statistics, and computational mathematics. Investigates mathematical structures, theorems, proofs, algorithms, functions, equations, and the rigorous logical frameworks underlying quantitative reasoning. Provides the foundational language and tools for all scientific fields, enabling precise description of natural phenomena, modeling of complex systems, and the development of technologies across physics, engineering, computer science, economics, and all quantitative sciences.
Researchers have developed a novel DNA-based method to identify people at greater genetic risk of developing Alzheimer's disease before symptoms appear. The method uses data on common DNA variants from over 7.1 million individuals and predicts a person's risk of Alzheimer's, depending on which DNA variants they have.
Researchers sequenced 2,574 pediatric ALL patient samples, identifying 376 significantly mutated genes that potentially drive cancer development. The study provides a foundational guide for physicians and scientists to understand disease development and improve treatment outcomes.
A new study reveals that the emergence of a new gene called PGBD1 is linked to the evolution of a new structure in nerve cells. PGBD1 controls paraspeckles, tiny structures that act like traps for RNAs and proteins, and its regulation is crucial for nerve cell development.
Researchers identified 15 instances of mucinization, where new mucins emerged from non-mucin proteins by adding repeating sequences. This process transformed the proteins into mucins with gooey consistency, contributing to their various biological functions.
A new study reveals that the protein CHIP can regulate insulin receptor signals more efficiently alone than in a paired state. This finding suggests that maintaining a balance between monomeric and dimeric states of CHIP is crucial for proper cellular function.
A recent study published in the Journal of Aging and Physical Activity found that higher levels of light physical activity and moderate-to-vigorous physical activity were associated with lower risk of death. In contrast, higher sedentary time was linked to increased mortality risk, regardless of genetic predisposition for longevity.
A new study published in Cell Reports Methods introduces a dating method called Temporal Population Structure (TPS) that uses artificial intelligence to accurately date human remains up to 10,000 years old. The method has shown promise in analyzing approximately 5,000 human remains from the Late Mesolithic period and modern times.
A study found that genetically unrelated individuals with extreme facial similarities share common genetic variants, but differ in epigenetic and microbiome landscapes. The results suggest a molecular basis for human resemblance, with potential implications in forensics and biomedicine.
A genome-wide analysis of five reading- and language-based skills in thousands of people identified shared biological bases. The study found genetic links with language-related brain areas and individual differences in neuroanatomy, highlighting the complex interplay between nature and nurture.
Researchers discovered that pairs of unrelated 'look-alikes' share similar genetic variations, physical characteristics, and even behavior. Genome-wide analyses found common single nucleotide polymorphisms (SNPs) in nine out of 16 pairs, with similarities in weights and lifestyle factors.
A Rutgers scientist has developed a highly sensitive DNA test that can detect Lyme disease in horses, a condition that can cause long-term complications. The test, called genomic hybrid capture assay, was tested on a sick horse and successfully identified the pathogen, allowing for early diagnosis and treatment.
A study of Y chromosome genomic analysis reveals evidence of a South American settlement pre-18,000 years ago. The findings also suggest a profound genomic impact during the Younger Dryas period.
Researchers discovered a rare genetic mutation that may lead to better diabetes treatments for patients, regardless of whether they inherited the mutation. The study found that carriers of the mutation had lower levels of adiponectin and higher levels of ceramides in their blood.
Researchers found that the APOE4 gene variant associated with Alzheimer's disease decreases risk of glaucoma by blocking a disease cascade. They also identified a potential treatment strategy using Galectin-3 inhibitors to prevent vision loss in mice with glaucoma.
Researchers identify small molecules that can restore wild-type p53 tumor suppression function to mutated p53 in both lab and mouse models. The approach has potential for developing new pharmaceuticals for treating cancers with p53 mutations.
Researchers at IRB Barcelona have found that CRISPR/Cas9 gene editing can trigger cell toxicity and genomic instability, particularly in regions near the tumour suppressor protein p53. The study identified 3,300 targeted spots with strong toxic effects, highlighting the need for safer CRISPR reagents.
The research team will analyze the remaining two enzymes necessary for riboflavin production and build a 'riboflavinator' in a test tube. This understanding could lead to improved methods for treating diseases and improving public health.
Researchers used single-nucleus RNA-sequencing to study heart tissue from patients with cardiomyopathies and found distinct cell types involved in pathogenesis. Genotype-associated pathways were also identified, providing evidence that genotype influences pathological remodeling of the heart.
The study investigated the effects of combined endocrine-disrupting chemicals (EDCs) on liver function and metabolic homeostasis in mice models. Significant changes were observed at high EDC exposure levels, including liver weight increase, lipid buildup, and elevated blood glucose levels.
SLFN11 acts as a surveillance factor for protein homeostasis by alleviating proteotoxic stress derived from protein synthesis and maturation. Its lack makes cells vulnerable to anticancer drugs inducing ER and proteotoxic stress, leading to chemoresistance. SLFN11 is also involved in regulating immune response and inflammation.
The Gerlich Group at IMBA found that histone acetylation establishes a sharp surface boundary on chromosomes, resisting microtubule perforation. Chromatin phase separation and DNA looping by condensin cooperates to build mitotic chromosomes with unique physical properties.
A team of researchers proposes a program to collect astronauts' biological samples, enabling the use of cutting-edge technologies to understand gene, mRNA, protein, and metabolite changes in space. This approach aims to mitigate spaceflight risks and advance personalized medicine for astronauts.
The study proposes a new statistical method to analyse population admixture, enabling more accurate determination of migration wave timing. The authors applied this method to Colombians and Mexicans, revealing two episodes of admixture in different time periods.
A study of over 500 patients with multiple myeloma reveals a high prevalence of genetic alterations in oncogenic pathways, leading to treatment resistance. The research found a specific link between RASopathies and mutations in these pathways, offering new insights into the development of resistance mechanisms.
Researchers at Joslin Diabetes Center identified a human gut bacterium that makes a protein mimicking the insulin peptide targeted by the immune system in type 1 diabetes. The presence of this bacterium accelerates the onset of diabetes in a mouse model and is linked to its development in children at genetic risk.
A team of scientists has discovered a key link between the protein αSyn and Parkinson's disease, finding that it interacts with immune responses in neurons. This interaction may play a critical role in the development of the disease, suggesting a potential new approach for treatments by targeting inflammatory pathways.
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 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 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 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.
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.
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 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.
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.
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.
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.