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.
A recent genomic study of 15 African hunter-gatherers sheds light on human diversity, evolution, and ancient interbreeding. The analysis identifies millions of previously unknown genetic mutations and suggests that different groups evolved distinct traits to adapt to local environments.
Researchers have identified genetic and blood serum markers that can predict the rapid progression of hepatitis C disease, allowing for more effective treatment decisions. Patients with high levels of a specific protein called MCP-1 are at risk for severe liver diseases.
Researchers found that human placenta-derived endothelial colony-forming cells (ECFCs) are more proliferative and better at forming new blood vessels than those derived from umbilical cord blood. The study, published in Cell Medicine, suggests that the placenta could be an abundant source of ECFCs for therapeutic use.
Researchers identified a new subset of dendritic cells that play a critical role in activating the immune response against harmful pathogens. The discovery enables better exploitation of targeted vaccine strategies to treat cancer and infection, with significant impact on vaccine design and immunotherapies.
A team of international researchers discovered evidence of pre-13,000-year-old non-Clovis cultures in North America, contradicting the long-held 'Clovis First' theory. The findings include Western Stemmed projectile points and DNA-profiling of human coprolites from the Paisley Caves.
Researchers use zebrafish to study the biological mechanisms underlying human disorders, including inflammatory bowel disease, doxorubicin-induced heart failure, spinal muscular atrophy, and acute T-cell lymphoblastic leukemia. The models provide valuable insights into causes and potential treatments for these diseases.
New research reveals rhesus macaques have three times more genetic variation than humans but with a comparable ratio of damaging mutations, indicating strong selection pressure to maintain gene function. The study's findings provide insights into the impact of population history on genetic variation and evolutionary selection.
A study by European Society of Human Genetics researchers identifies a crucial factor, CD36 fatty acid transporter protein, in suppressing response to VPA treatment. Monitoring blood for CD36 levels can help doctors determine response to treatment before starting therapy.
Researchers identify a critical neurological factor in aggression, blocking it in mice to suggest potential treatments for severe aggression. The study's findings have significant breakthrough potential for developing drug targets for pathological aggression.
Biochemists at UC Riverside discovered that increasing vitamin C levels can produce twins and triplets in plant seeds. This finding has the potential to increase fertility in low-fertility crops and boost their value. The researchers' study results were published online in PLoS ONE.
Lachke's research focuses on identifying genes associated with eye diseases, aiming to understand lens development and function. He has discovered three new cataract-associated genes using his online gene discovery tool iSyTE.
Researchers have identified over 10,000 microbial species living in humans and found that between 81-99% of genera were present in healthy adults. The study's findings highlight the role of beneficial microorganisms in maintaining health and provide insights into their functions.
Researchers at UCSB have successfully synthesized a semiconductor material through genetic engineering and molecular evolution. By directing the evolution of enzymes, they created new mineral architectures with unique properties, opening up possibilities for specialized materials.
The Forsyth team, led by experts in oral and craniofacial microbiology, contributed to the Human Microbiome Project's definition of normal bacterial makeup. The study found that microbes contribute more genes responsible for human survival than humans themselves, with an estimated 360-times more bacterial genes.
The Human Microbiome Project found that the human body contains trillions of microorganisms, contributing millions of unique protein-coding genes. These microbes play a vital role in human health, enabling digestion and absorption of nutrients, and producing beneficial compounds.
The FASEB MARC Program has awarded a $1,650 travel grant to Shanelle Joseph from Southern University and A tM College for her poster/platform presentation at the 2012 meeting. The program aims to increase underrepresented minority engagement in biomedical research.
Researchers suggest that inactivation of two specific genes related to the immune system may have conferred selected ancestors of modern humans with improved protection from some pathogenic bacterial strains. This proposed factor could have contributed to the emergence of anatomically modern humans around 100,000 years ago.
A recent study has identified more than 40 genetic regions influencing fertility in Hutterite men, which may shed light on unexplained cases of male infertility. The research also found nine genetic regions impacting sperm quality in non-Hutterites.
A new technique called TAB-Seq has enabled scientists to map the entire genome of 5-hydroxymethylcytosine sites at single-base resolution. This breakthrough has revealed new information about its patterns of distribution in human and mouse embryonic stem cells, indicating a major role in regulating gene expression and development.
A large survey of human genetic variation reveals that rare genetic variants are surprisingly common, affecting millions of people. The study, published in Science, found that one individual in 14,002 had a unique variant in each of 202 genes.
Researchers found a critical gene responsible for human brain features, duplicated around two million years ago. The partial copy's interaction with the original gene likely enabled cognitive changes and neuron development benefits.
Researchers found that Chd1 protein regulates histone occupancy, enabling gene expression. In yeast cells, Chd1's absence impairs nucleosome reassembly and transcription.
Researchers at Durham University have identified a key gene involved in sperm-to-egg binding, enabling fertilization in mammals. The discovery highlights the importance of cumulus cells surrounding eggs and suggests potential avenues for improving IVF treatment effectiveness and developing new contraceptives.
Khan Academy and 23andMe are collaborating to educate people about genetics and the Human Genome Project. The partnership provides free educational resources, including video series and interactive tools, to help individuals understand their own genetic information.
A new genetic study reveals that head and body lice are the same species, despite their distinct characteristics. The research compared protein-coding genes expressed during both life cycles, finding only minor differences in sequences.
Human embryonic stem cells are regulated by three genes: Nanog, Oct 4, and Sox 2. These genes control self-renewal and differentiation, essential for treating diseases like Parkinson's and Alzheimer's. The study highlights the importance of human research over mouse models.
A new vaccine developed by Inserm researchers reduces both hypersensitivity to allergens and inflammatory response in asthmatic mice. The vaccine is based on DNA sequences of the allergenic substance Derf1 and has shown promising results in animal studies.
Scientists at Gladstone Institutes discover apoE protein plays distinct roles in young and aging brains, suggesting new research avenues for treating Alzheimer's. Increased ApoE levels can damage brains later in life, challenging current thinking.
A recent study by McGill University researchers has identified a key gene affecting chronic pain sensitivity, offering a potential new approach to individualized therapy. The findings suggest that targeting the pore-forming function of P2X7 receptors may provide relief for patients with genetically inherited low pain sensitivity.
A study of ancient DNA found that Western European Neandertals experienced a demographic crisis, leading to reduced genetic variation and near-extinction. This discovery challenges the long-held theory of cold adaptation in Neandertals.
Researchers found that the absence of a single gene in Neospora makes it less able to evade the immune response in mice and other species. This may explain why Neospora has a limited host range compared to Toxoplasma, which has more surface proteins necessary for host adaptation.
A multinational team of researchers found that house mice (M. m. domesticus) colonized Iceland and Greenland during the Viking age, mirroring human settlement patterns. The analysis of mouse mitochondrial DNA showed no evidence of mice in Newfoundland, suggesting a fleeting presence.
Researchers have created a genetic map of recombination in chimpanzees, showing that hotspots differ significantly from those in humans. The study reveals the complex evolution of this process, which drives genetic diversity and adaptation.
Researchers found that sex-deprived fruit flies prefer alcohol to satisfy a physical reward, which could lead to understanding of human addiction causes. The study's findings could also inform the development of treatments for substance abuse in humans.
A recent study by the Norwegian Institute of Public Health found that silver nanoparticles can suppress cellular growth and multiplication, causing cell death depending on concentration and duration of exposure. Titanium dioxide nanoparticles also caused DNA damage but with weaker effects.
A new JDRF-funded study identifies genes expressed in beta cells, suggesting a role in their own destruction leading to T1D. The research may help explain why the immune system specifically attacks beta cells, opening up new avenues for understanding and treating the disease.
A study by University of Illinois professor Gene Robinson found that honey bees differ in their desire to perform tasks, with certain individuals more likely to seek adventure. The research suggests that these differences may be due to variability in personalities.
The study compares the genomes of humans, chimpanzees, gorillas, and orang-utans, shedding light on human origins and genetic differences. Genetic changes important in evolution were found to be accelerated in genes related to sensory perception, hearing, and brain development.
A team of researchers at the University of Gothenburg has identified a key molecule, Cdk1, responsible for initiating the maturation of mammalian eggs. This discovery could lead to an increased rate of successful IVF treatments for women struggling with egg maturation issues.
Researchers found that bright light inhibits the firing of hydras' stinging cells, suggesting a daily rhythmic cue to regulate their behavior. The study links photoreception genes to the mechanism of hydra's harpoon-like cnidocytes, revealing unexpected functions beyond vision.
Researchers at UC Davis found that R-loops prevent methylation at CG island promoters, which are essential for 60% of human genes. This breakthrough could lead to treatments for autoimmune diseases by reversing cytosine methylation.
Most European Neandertals were on the verge of extinction around 50,000 years ago, according to a new study published in Molecular Biology and Evolution. A small group of Neandertals recolonized central and western Europe after dying off, surviving for another 10,000 years before modern humans entered the scene.
Biologists at the University of Rochester used a genetic tool from jewel wasps to find changes in cell regulator genes that affect wing growth. This discovery could help understand cell growth regulation and underlying causes of some diseases.
A team of Whitehead Institute scientists confirms that the human Y chromosome has not lost a single ancestral gene in the past 25 million years. The study, published in Nature, contradicts the 'rotting Y' theory and suggests the Y chromosome has been genetically stable since its divergence from other chromosomes 25 million years ago.
MDC researchers have identified a crucial function of the c-Maf gene in the development of neurons responsible for mechanosensory function. In mice with deleted c-Maf, high-frequency vibrations are not detected, leading to impaired touch sensation and early-onset cataracts.
Dr. Chris Overall's research has led to a better understanding of the human proteome, revealing key proteins controlling innate immunity and inflammation. His team discovered a molecular beacon that directs white blood cells to injury sites, stopping chronic inflammation.
Researchers have developed the Collaborative Cross, a reference manual of genetic variation in hundreds of specially-bred mice and their genetic sequences, which more closely mirror human genetic complexity. This resource could aid development of more effective treatments for various human diseases.
A team of scientists developed the Drosophila Genetic Reference Panel to study complex traits like cold tolerance and starvation resistance. The project reveals hundreds of novel candidate genes, shedding light on the genetic basis of these traits.
A new study suggests that Neanderthal demise was caused by a combination of cultural changes, interactions with modern human ancestors, and climatic forces. Computer modeling shows how the two groups interacted and mated, leading to hybridization and the eventual extinction of one group.
Researchers at Van Andel Research Institute have discovered a predictive marker for patient sensitivity to MET inhibitors in glioblastoma. The study may lead to the development of improved therapies for this deadly brain cancer.
Researchers discovered a genetic basis for people's preferences for fatty foods, finding that those with certain forms of the CD36 gene may prefer higher-fat foods and be at greater risk for obesity. The study suggests that genes related to fat perception may play a role in diet adherence and food preference.
A study published in PLOS ONE found that circular RNA molecules are more abundant than previously thought, comprising a substantial fraction of all transcripts identified for many genes. This discovery opens up new avenues for research into the potential functions and relevance of circular RNAs in human biology and health.
A new study sheds light on the earliest stages of human migration, suggesting that modern humans first settled in Arabia on their way out of Africa. Genetic analysis of mitochondrial DNA genomes provides evidence for an ancient ancestry within Arabia.
Researchers analyzed genetic data to find clues about human migration over 60,000 years ago. They found evidence for an ancient ancestry within Arabia, suggesting it was the first staging-post in the spread of modern humans around the world.
A new study reveals that pigeons' visible traits don't necessarily coincide with their genetic makeup, defying expectations. The research analyzed over 350 breeds and found that birds from different breeds can share similar traits, even if they are not closely related genetically.
A study analyzing human gut microbes as a complex system reveals patterns corresponding to excess body weight. The researchers found organizational shifts away from a normal state in the gut flora of obese individuals, which may account for their increased energy extraction capacity.
Research at Oregon State University found that disrupting circadian rhythms causes accelerated neurodegeneration, loss of motor function, and premature death. Disrupted clock mechanisms predispose the brain to neurodegeneration, which may cause more damage to the clock function.
Researchers have found genetic evidence suggesting that the Galapagos giant tortoise species Chelonoidis elephantopus may still exist in the wild, despite being thought extinct for over 150 years. The discovery was made by tracking the DNA of hybrid offspring between this species and another, C. becki, on Isabela Island.
Researchers at Case Western Reserve University have identified a gene activator, Mef2, crucial to the development of schistosomes in humans. The discovery provides a potential target for a vaccine to prevent the disease, which affects over 200 million people worldwide.
Researchers have identified a crucial role for FGF20 in the development of the mouse inner ear, revealing a potential target for regenerating outer hair cells and treating human deafness.