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.
The NIH supports an international moratorium on clinical germline editing due to safety, ethical, and philosophical concerns. The call comes after irresponsible research in China, where twins were born with altered DNA before implantation.
Researchers have identified an association between a MUC5B gene variant and systemic vasculitis, a lung disease prevalent in the Japanese population. The study found that patients with antineutrophil cytoplasmic antibody-associated vasculitis are more likely to have ILD if they carry this specific genetic variation.
Researchers from the University of Rochester discover that LINE1 retrotransposons become more active with age, triggering inflammation and age-related diseases. By understanding the impacts of these genomic parasites, scientists can develop strategies to inhibit them and combat aging.
A comprehensive analysis of 14 IBD patient groups and 1,800 intestinal biopsies pinpointed a key genetic component linked to more severe cases. The protein PAI-1 was found to exacerbate colon inflammation by targeting tPA, which protected against injury in mice
Researchers at the Marine Biological Laboratory (MBL) have identified key genes that promote spinal cord regeneration in axolotls. By activating these genes, scientists were able to force human cells to undergo regeneration, highlighting similarities between species.
A new study confirms dingoes are a distinct species in Australia, with specific characteristics that differentiate them from domestic dogs and other wild canids. The finding highlights the importance of preserving dingo populations for their ecological role in managing invasive predators.
Researchers at Shinshu University found that a gene influencing snail shell coil direction also plays a key role in snail evolution, potentially leading to the creation of new species. The study reveals that genetic expression levels can determine handedness in snails, with reduced expression resulting in reversed handedness.
The completed genome of the Antarctic blackfin icefish reveals genes that have adapted or disappeared as the fish acclimated to rising oxygen concentrations. The study provides insights into how these traits arose and may help understand human disease mechanisms and potential new therapies.
Researchers have developed a neuron-optimized CRISPR activation system that efficiently regulates genes involved in learning and memory, plasticity, and neuronal development. This breakthrough paves the way for studying genetic influences on brain health and disease using model organisms more closely resembling humans.
Researchers discovered a link between Escherichia coli and colorectal cancer risk through colibactin, a genotoxic warhead that damages DNA. The study identified potential biomarkers for assessing colorectal cancer risk and provides significant mechanistic insights into the carcinogenic activities of colibactin.
Researchers reconstructed the phylogenetic tree of six African baboon species, revealing that genes were exchanged between species, leading to new species emergence. This study sheds light on fundamental biological processes producing new species and provides an analogous model for understanding human evolutionary history.
A 34,950-33,900 year old skull from Mongolia has been identified as the oldest known modern human in the region. The ancient skull's presence confirms its link to the Early Upper Palaeolithic industry, which is typically associated with modern humans.
A study published in PLOS ONE suggests that machine learning can provide an equally accurate and reliable prognosis for patients with cardiovascular disease, compared to traditional methods. The use of genetic programming reduces bias and human error, allowing complex associations to be made transparent to clinicians.
Researchers at the University of Kentucky have assembled the axolotl genome, a salamander that can regrow body parts. The completed genome will help scientists understand how this animal achieves its remarkable regenerative abilities.
Researchers at VIB-KU Leuven discovered a genetic mutation that can cause a juvenile form of inflammatory joint disease. The study used next-generation sequencing and immunology approaches to unravel the disease mechanism, providing insights into the development of targeted therapies.
Researchers discovered 677 genes and small RNAs expressed differently between African and global Salmonella strains, leading to alterations at the protein level. The study provides a powerful tool for understanding the bacteria's genetic basis and potential antibiotic resistance.
Scientists identify epigenetic marker and genes that cause heart failure in fruit fly offspring, even when fed a normal diet. Reversing the epigenetic modification or over-expressing these genes protects subsequent generations from negative heart effects.
A new study has found a genetic factor on chromosome 6 that increases the risk of spontaneous coronary artery dissection (SCAD), a rare and atypical form of heart attack primarily affecting young to middle-aged women. The genetic variant, known as rs9349379, is also associated with a small protective effect from classic heart attacks.
Researchers have identified a group of genes that induce differences in the developing brains of male and female roundworms, triggering puberty. This genetic pathway may serve the same function in controlling human sexual maturation timing, providing new insights into sex-based brain differences.
A new mouse model has revealed the crucial role of PARL in maintaining mitochondrial respiratory chain function and structural integrity. The study found that mice lacking PARL display symptoms reminiscent of Leigh syndrome, highlighting the importance of understanding the protein's mechanisms in neurodegenerative diseases.
Neuronal cell death in Alzheimer's disease may be beneficial as it removes dysfunctional neurons, according to new research published in Cell Reports. The study suggests that the anti-aging mechanism of 'cell competition' plays a crucial role in protecting the brain from damage.
Researchers discovered shared and virus-specific mechanisms used by dengue and Zika viruses to counteract human and mosquito immune defense, hijack host proteins, and disrupt brain development. They found that Zika virus causes microcephaly in fruit flies by disrupting the function of ANKLE2 protein.
The study identifies genes associated with longevity in parrots, including telomerase, which may also play a role in human aging. The researchers also found parrot-specific gene-regulating regions near neural development genes linked to human cognition.
Researchers in the University of Helsinki have confirmed a fossilized seal hybrid between grey and ringed seals, with genetic analysis suggesting possible interbreeding in the wild. The discovery provides insights into hybridization between mammalian species, including early humans.
Researchers found that vorinostat effectively inhibited HPV DNA amplification and virus production in preclinical experiments. Additionally, the treatment induced programmed cell death in infected cells. The study suggests that HDAC inhibitors could be promising compounds for treating benign HPV infections.
Researchers at Princeton University have developed a comprehensive way to evaluate how immune responses of humanized mice measure up to actual humans. The study highlights an experimental paradigm to address the gap in understanding immune responses to human pathogens and potential vaccines.
The study found the earliest evidence of Siberian ancestry in Fennoscandia in a population inhabiting the Kola Peninsula, Russia, dating to around 4,000 years ago. Ancient DNA from Finland reveals that people genetically similar to present-day Saami people inhabited areas in much more southern parts of Finland than the Saami today.
A new AI model has been developed to translate mouse model data to human disease conditions, increasing the accuracy of extrapolation by up to 50%. The model, known as Found In Translation (FIT), has been tested on 28 different human diseases and uncovered novel disease-associated genes.
A new gene, slincR, discovered in zebrafish could help explain human susceptibility to chemicals. The study found that the gene regulates sox9b, a crucial gene in human development.
Researchers have developed a mouse model that closely replicates human diabetic nephropathy, revealing a key role for immune and inflammatory responses in promoting kidney damage. This finding suggests targeting these pathways may be useful for preventing or slowing the development of diabetic nephropathy.
Scientists have created a model of the upper chambers of the heart using 3D-engineered human heart tissue, which can serve as a tool for evaluating disease mechanisms and testing new drugs. The tissue is derived from human induced pluripotent stem cells and responds to atrial-selective drugs.
A new analysis of an aggregated set of family trees suggests that the heritability of life span is well below past estimates, likely no more than seven percent. This finding could be due to assortative mating, where people select partners with similar traits, including longevity.
Researchers have identified a new gene, LSS, responsible for hypotrichosis simplex, a rare form of hair loss. The gene's mutation impairs an enzyme crucial to cholesterol metabolism, leading to progressive hair loss from childhood on.
Researchers found that dietary restriction maintains cellular fitness in intestinal cells, preventing age-related damage and leaky gut. A rich diet promotes excessive cell loss and permeability, linked to human conditions like inflammatory bowel disease.
A new study published in Human Fertility found that single women who freeze their eggs for non-medical reasons are trying to avoid 'panic parenting.' The research also highlights the need for clearer information about the likelihood of having a baby with these eggs. Many participants reported feeling emotionally difficult and unsupport...
Researchers identified a 48-hour cycle regulating the skin's response to ultraviolet rays, revealing a tradeoff between stress response and pigmentation. The 'UV-protection timer' optimizes sun damage prevention by synchronizing natural defense mechanisms.
Researchers aim to improve guidelines for human-animal chimera research, considering moral status and animal welfare. The project will address conceptual, ethical, and procedural limitations in existing ethics guidance.
Researchers developed a polygenic risk score for lifespan based on weighted contributions from relevant genetic variants, predicting which participants were likely to live longest. They also found associations between genetic variants and Alzheimer's disease, heart disease, and smoking-related conditions with overall lifespan.
Researchers have identified a novel human immunodeficiency syndrome caused by a mutation in the IKBKB gene. The mutation disrupts the immune system, resulting in excessive inflammation and reduced numbers of antibody-producing B cells and effector T cells.
Researchers found a correlation between AMY1 gene copy numbers and faster starch digestion rates. Individuals with more copies of the gene displayed higher blood glucose responses to starchy foods.
A new study published in the Journal of Biological Chemistry has identified a human RNA molecule called nc886 as a potent activator of the innate immune system. The RNA molecule's ability to turn on protein OAS sets off a chain of events that destroys viruses.
A genetic mutation in IFNλ4 reduces its effectiveness against the hepatitis C virus in humans compared to chimpanzees and African Pygmies. This discovery highlights a potential weakness in human immunity to certain viral infections.
Researchers at the Buck Institute have developed a new method to pinpoint genetic differences between closely related species, which could lead to breakthroughs in understanding human longevity, disease resistance, and regenerative abilities. The technique was tested using an ancient divergence in yeast and has wide applicability to pl...
A team of scientists discovered a gene signature linked to spinal cord injury severity, which can predict functional recovery. The study identified key genes that are switched on or off in response to injury, potentially informing the development of biomarkers for treatment.
A study found that viruses influenced the evolution of humans, particularly in adapting to pathogens. Neanderthal DNA was shared with modern humans, providing resistance to viruses, and its presence suggests selective benefits.
Researchers at DTU Bioengineering have developed a high-tech antivenom against black mamba venom using human antibodies, which can potentially save thousands of lives annually. The breakthrough antivenom uses a biotechnological method to discover human antibodies, allowing for large-scale production and industrial use.
A study published in PNAS reveals that an ancient retrovirus, HK2, is more frequently found in drug addicts and associated with addiction. The virus integrates near a gene involved in dopaminergic activity, manipulating nearby genes and predisposing individuals to addictive behavior.
A study in mice revealed that MAVS deficiency leads to altered gut microbiota, increased intestinal permeability, and susceptibility to allergic contact dermatitis. The findings suggest a causal relationship between the gut microbiome and allergies.
Researchers have discovered a genetic risk factor for Alzheimer's disease and related dementias, which may lead to new treatments. Humanin, a naturally occurring mitochondrial peptide, decreases with age and is associated with an increased risk of diseases linked to older age.
Researchers at University of Tsukuba identified two molecules, Ptf1a and Meis, that specify the development of a hypothalamus-like region in sea squirt embryos. These findings have implications for understanding brain development and potentially treating diseases like Parkinson's disease.
A Northwestern University study found that historical bias leads researchers to focus on the same 10% of human genes, despite many having strong links to disease. The study suggests that policy interventions promote exploratory research but mainly reinforce established topics.
A recent study reveals that historical bias in research funding mechanisms and social forces reinforce the focus on established genes, leading to an under-studied 80% of all human genes. The researchers discovered that poorly characterized genes have a 50% lower chance of becoming independent researchers.
Researchers at Cincinnati Children's Hospital Medical Center created a database of daily gene activity rhythms, linking them to drug metabolism. This could lead to improved timing of medication administration by synchronizing with the body's internal clock.
A research team led by Tohoku University has revealed the evolution of a gene related to psychiatric traits. The SLC18A1 gene variant is associated with schizophrenia, bipolar disorder, anxiety, and neuroticism, suggesting that natural selection may have shaped human psychiatric diversity.
Researchers found a genetic variation associated with thymic output in humans, which can affect immune responses. This discovery may help explain differences in immune responses between healthy individuals and has implications for precision medicine and vaccine development.
Researchers have successfully boosted expression of the dystrophin gene to therapeutic levels in large animal models, a crucial step towards developing a treatment for Duchenne muscular dystrophy. The study demonstrates that CRISPR/Cas9 approaches can improve muscle function and integrity in DMD patients.
The opium poppy's genome has been sequenced to understand its pain-relieving properties, with a notable whole-genome duplication event occurring around 7.8 million years ago.
A new international collaboration led by the CNIO reveals that up to 20% of human genes may not be coding genes, but rather non-coding or pseudogenes, which could have significant effects on biomedicine. The study analyzed gene catalogs and found that many genes were more likely to be non-coding than previously thought.
Researchers found that cold climate cycles coincided with the absence of Neanderthal tools and the rise of modern humans in Europe. The limited diet of Neanderthals, which relied on terrestrial meat sources, may have contributed to their decline during stadials.
A Pew Research Center survey finds that majority of Americans accept genetic engineering of animals to prevent disease transmission and grow organs for transplants. However, others oppose the use of technology to improve meat quality or revive extinct species, citing concerns about ecosystem risks.