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.
Stem cells use a process called nonrandom chromosome segregation to divide into different cell types, suggesting that distinct genetic information on the chromosome copies may underlie this diversification. The study used fruit fly stem cells to demonstrate this ability and sheds light on how cells develop into complex organisms.
Researchers have identified genetic factors behind nearsightedness, a condition characterized by an eye that is too long or the cornea has too much curvature. The SCO2 gene plays a crucial role in regulating copper and oxygen levels in eye tissue.
Researchers at Massachusetts General Hospital have identified a gene variant that predicts weight loss after gastric bypass surgery. The variant, located on chromosome 15, is associated with an average weight loss of nearly 40% in individuals who carry two copies of the beneficial version.
Physiology's enduring relevancy is highlighted through Dr. Joyner's research on complex bodily functions like blood pressure and blood flow during exercise. The redundancy in human systems complicates genetic explanations for diseases, leading to a comeback of multi-directional thinking in physiology
A genetic analysis of the avian flu virus reveals it is evolving to adapt to human cells, allowing it to efficiently infect humans. The study found that the virus can grow in human cells at a lower temperature than birds, posing a significant risk to human health.
The study reveals that varying genetic information copies affect cell tolerance to cancer medication and antibiotics. This discovery may help explain differences in organism responses to environmental changes and certain medications' side effects on sperm and eggs.
Researchers discovered genetic changes enabling H5N1 bird flu to replicate in mammalian noses, paving the way for more effective vaccines against human transmission. The findings suggest that specific mutations can mediate the spread of bird flu between humans.
For the first time, scientists have demystified a key step in human DNA replication by discovering how a sliding clamp loads onto DNA. The research reveals that a clamp loader quickly removes the clamp from DNA when polymerase is absent, allowing the polymerase to capture and complete the assembly of the holoenzyme.
Researchers at Northwestern University identified a viral protein, VP1/2, that allows herpesvirus to interact with cellular motors and speed through the nervous system. This breakthrough enables the virus to move unobstructed from skin nerves to neuron nuclei, outcompeting most other viruses.
Two new species of mouse lemurs have been identified by Duke University scientists, one named Anosy mouse lemur and the other Marohita mouse lemur. The genetic analysis reveals that these species are distinct and do not interbreed with other recognized mouse lemur species.
Researchers found 21 genomic regions with a 'signature' for both inflammatory disease susceptibility and natural selection. These variants rose in frequency to help protect humans against viruses and bacteria, but now increase the risk of autoimmune diseases like multiple sclerosis and rheumatoid arthritis.
AgedBrainSYSBIO assembles 14 international research teams to tackle ageing and cognitive decline using GWAS, comparative genomics, and protein-protein interactions. The project aims to identify druggable targets for preventing and curing age-related diseases.
Scientists have cracked the genetic code of bacteria linked to periodontitis, a disease marked by inflammation and infection of the teeth's supporting ligaments and bones. The unique genetic code allows SR1 bacteria to introduce a glycine amino acid, limiting gene exchange with other bacteria.
Researchers expose laboratory-grown human skin to intense THz radiation and detect DNA damage markers. They also observe increases in tumor-suppressing proteins facilitating DNA repair.
A recent study discovered a gene responsible for obesity in mice, and deleting it eliminated obesity even on high-fat diets. The researchers believe this may be replicated in humans using existing technology targeting the specific gene.
Researchers have achieved a major advance in understanding genetic information transcription from DNA to RNA, illuminating critical molecular interactions during the step-by-step process. The study provides new insights into how proteins work together to ensure accurate loading of DNA into Pol II at the start of a gene sequence.
Research on ancient human skeletons reveals negative changes in oral bacteria due to dietary shifts, including the introduction of farming and processed sugar. The study provides a new record of dietary impacts and health changes over time.
Early humans lost hair to efficiently sweat away heat, later using decorative methods like tattooing and makeup to increase attractiveness. Researchers found evidence of early skin decoration through fossil records and molecular genetics.
Researchers used an animal model and whole-genome sequence data to identify hundreds of gene variants that potentially helped humans adapt to changing environmental conditions. The findings provide a road map for understanding human biological history and modern-day variability, including traits like resistance to infectious diseases.
Researchers have found six regions of the genome where humans and chimpanzees share identical genetic variants, suggesting that these traits date back to a common ancestor. This study highlights the importance of balancing selection in maintaining genetic variation and fending off infectious disease.
A team of researchers created an animal model of recent human evolution, revealing a single mutation that produced several traits common in East Asian peoples. The study found that the mutation arose around 30,000 years ago in central China and is linked to thicker hair, denser sweat glands, and other skin features.
Researchers at USC have identified two molecular signaling pathways that control the formation of head and face structures, shedding light on certain birth defects. The study used time-lapse photography to study organ development at the single-cell level in zebrafish embryos, providing insights into human health and disease.
Scientists at Max Planck Institute for Molecular Genetics discovered a recurring pattern of over 13,000 epigenetic alterations in young mouse tumours, which is partly conserved in human colon carcinoma. This finding may facilitate the identification of novel clinical colon cancer biomarkers for early detection.
Scientists have generated a mouse model with a genetic mutation causing CoQ10 deficiency, which can lead to severe neuromuscular diseases. The mutated mice exhibit rapid degeneration in the lower limbs and are expected to be a valuable tool for studying and developing treatments for metabolic encephalopathies.
Researchers at MIT have developed a new type of vaccine-delivery film that gradually releases DNA coding for viral proteins, potentially overcoming safety risks and improving effectiveness. The film is implanted under the skin using microneedles and degrades over time, releasing the vaccine over days or weeks.
A study of ancient DNA from a 40,000-year-old human from Tianyuan Cave near Beijing found that the individual shared a common origin with present-day Asians and Native Americans. The genetic profile also revealed that this early modern human diverged genetically from present-day Europeans and did not carry a larger proportion of Neande...
Researchers found that the critical transcription factor TFIID can co-exist in two distinct structural states, enabling recognition and binding to DNA sequences. This discovery provides new insight into gene expression regulation, a process crucial for growth, development, health, and survival of all organisms.
Researchers found that stem cell transplantation significantly extended the lifespan of mice with ALS by 20 days and improved their neuromuscular function by 15 percent. This breakthrough study suggests that stem cells may represent a promising avenue for effective cell-based treatment for ALS and other neurodegenerative diseases.
Scientists have developed a software model called TreeMix that compares genetic variants across populations to infer history of population splits and mixtures. This new approach reveals complex relationships among human populations, including interbreeding with wolves in dog breeds.
Researchers found a human gene associated with the presence of Prevotella bacteria in the gut, which could have implications for treating diseases like Crohn's. The study suggests that genetic variations may influence the makeup of the gut microbiota.
A study on Arabidopsis thaliana reveals its genetic diversity can help crops adapt to environmental stresses. Dr. Sarah Assmann explores the plant's ability to tolerate climate change, drought, and poor soils.
A University of Alberta researcher's findings may rewrite the history of humanity's migration out of Africa. The study uncovered fossils, artifacts, and evidence of continuous human occupation in the region dating back at least 200,000 years.
Michigan State University researchers have identified a unique protein that regulates cell growth and controls excessive cell proliferation. The study focuses on Retinoblastoma tumor suppressor proteins, which use controlled destruction to perform their jobs, highlighting new potential ways to treat cancer.
Researchers found that chromatin, a protein complex, regulates genes in the liver to sync with circadian cycles. The study suggests connections between dietary schedules and chronic diseases, such as high blood sugar and cholesterol.
The Genographic Project has launched a new phase, utilizing advanced genetic technology to explore human migration patterns. Participants can learn about their migratory history, regional affiliations, and even Neanderthal or Denisovan ancestry.
Researchers analyzed microbial DNA in 252 stool samples to catalog genetic variation, finding over 10 million single-letter changes in collective DNA. The data could aid understanding of how human genes interact with microbes to maintain health or cause disease.
Researchers developed a new method to create long-lived stem cells for bone replacement by inserting human telomerase into mesenchymal stem cells. This allows the stem cells to retain their ability to become bone cells and divide repeatedly, making them suitable for tissue engineering applications.
Researchers discovered that modern humans first settled in Sicily around the time of the last ice age, with a diet consisting mainly of terrestrial animals. Genetic analysis revealed the peopling of Sicily occurred at 19,000-26,500 years ago, when sea levels were low enough to expose a land bridge.
Stowers Institute researchers unveil role of MLL3 and MLL4 genes, frequently mutated in certain cancers. The study sheds light on the misregulated mechanism governing histone interactions, which may play a crucial role in cancer pathogenesis.
A new genomic analysis of pigs reveals similarities with humans in terms of adaptability and susceptibility to domestication. The study also found differences between European and Asian breeds, supporting the independent domestication of pigs in western Eurasia and East Asia.
Scientists have discovered a new method for identifying genes in animals, which could increase genetic information by 70-80%. This technique allows for direct observation of genes and proteins, enabling more efficient study of animal diseases and viruses.
Researchers at The Scripps Research Institute identify a new pathway regulated by HDAC4 that plays a major role in information processing. This discovery offers insight into how imbalances in this pathway contribute to cognitive abnormalities in humans.
CWRU's Maxwell J. Mehlman examines the emerging issues in genetic engineering, balancing innovation with caution. The book discusses the potential for evolutionary engineering, which allows parents to form the next generation by altering reproductive cells to remove disease risks.
Researchers studying fruit fly genomes reveal strong evidence of pervasive natural selection, contrasting with human genome adaptation over the last 100,000 years. The study provides new insights into the forces shaping genetic variation and has implications for understanding human genetic variation.
Researchers at Virginia Tech have identified a curious genetic trait in African mosquito species that transmits malaria, suggesting that this species is genetically linked to an older lineage. This discovery could lead to better understanding of the mosquito's capacity to transmit malaria and inform malaria control efforts.
Researchers estimate that modern humans and Neandertals interbred around 37,000 to 86,000 years ago, with the most recent encounters occurring well after modern humans migrated outside of Africa. This suggests that Neandertals had children with the ancestors of present-day people outside of Africa.
Researchers at MDC Berlin-Buch identified subpopulations of B cells with activated Myc genes, essential for germinal center formation and maintenance. These findings shed light on the origin of B-cell lymphomas derived from germinal centers.
Researchers at Caltech used Caenorhabditis elegans to study cell migration, identifying genes that are active during this process. These findings may lead to the development of new drugs that block cell migration, which is linked to tumor formation and metastatic cancer.
Researchers developed an emotion detector using a genetic algorithm that recognizes six human emotions and neutral expression. The system analyzes upper and lower lip shapes to improve interaction between humans and computers.
The GENCODE Consortium discovered a staggering array of genes in the human genome, including over 10,000 novel genes and 20,687 protein-coding genes. Long non-coding RNAs, a relatively new type of gene, were also found to play a significant role in human biology and disease.
The Gruber Foundation honored Mary Gehring and Valerie Horsley with the Rosalind Franklin Young Investigator Award for their groundbreaking research in Arabidopsis epigenetics and mouse genetic models. The awards recognize early career female scientists making significant contributions to genetics.
Scientists have assigned functions to 80% of human genome, providing insights into gene regulation and solid genetic foundation for understanding health and disease. The UCSC Genome Browser offers a gateway for worldwide researchers to explore this new encyclopedia.
The Yale team's study reveals a hierarchical structure in the human genome, with regulatory networks that work together to regulate target genes. They also found that sex plays a role in genetic activity, allowing researchers to track the relative contributions of mom and dad.
Researchers at Lund University have developed a new approach that links gene variants to their effect on insulin production in human beta cells. The study explains 25% of variations in blood sugar levels, providing greater insight into the causes of type 2 diabetes.
A study led by Svante Pääbo describes the Denisovan genome, revealing genetic variation was extremely low, suggesting a small population that grew quickly. The research documents genetic changes between modern humans and their archaic relatives, including genes associated with brain function and nervous system development.
Researchers found that humans inherit more than three times as many mutations from their fathers as from their mothers. The study also suggests that the mutation rate in fathers doubles with age, while there is no association with mother's age. This new insight challenges theories of human evolution and sheds light on conditions such a...
Researchers found that DNA methylation modifications may contribute to phenotypic changes in humans and chimps. The study suggests that methylation differences between the species might be linked to human disease vulnerability.
A study by researchers at the University of Cambridge suggests that common ancestry, not hybridisation, better explains the average 1-4 per cent DNA shared between Eurasians and Neanderthals. Genetic evidence shows that Africans have almost none of the Neanderthal genome.
Researchers at Oregon State University have found a type of 'selfish' mitochondrial DNA in animals that is hurting the organism and affecting its chance to survive. The discovery bears similarities to damage done to human cells as they age and may provide an important new tool to study human aging.
Researchers at Newcastle University have identified a new type of white blood cell that activates a killing immune response to external sources, providing a potential target for vaccines. The discovery could lead to the development of targeted immunotherapies against cancer and infections such as Hepatitis B.