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 identified a genetic factor leading to forehead and frontal bone malformations, which can cause severe craniofacial defects. A potential therapy using FGF supplements may help prevent these defects in embryos with missing TGF-beta genes.
Researchers analyzed genes and developed new statistical technique to estimate divergence time. They found that humans and chimpanzees likely shared a common ancestor between 5-7 million years ago, with a maximum limit of approximately 7 million years ago.
A study found a significant association between high EL concentrations, low HDL-C levels, and early stages of atherosclerosis. This suggests that EL concentrations may be useful in predicting an individual's risk for atherosclerosis.
Researchers discovered a distinctive variant of the prodynorphin gene in humans, which increases production of neuropeptide prodynorphin. This variant is linked to increased brain size, memory, perception, and sensitivity to pain, as well as potential risks for drug addiction, schizophrenia, and bipolar disorders.
STAT proteins play a key role in regulating gene expression by phosphorylating specific sequences, leading to transcriptional activation. This process is essential for various cellular processes, including proliferation and differentiation.
Researchers have successfully sequenced the canine genome, revealing genetic similarities with humans that could help identify disease-causing genes. The breed-specific sequencing project aims to develop new cancer treatments by identifying genetic changes in individual dog breeds.
Researchers found that human cells without securin protein can recover from widespread chromosome losses over time, suggesting compensatory mechanisms at play. This discovery has implications for cancer treatment, as mathematical models often assume cell populations cannot recover from chromosomal instability.
A study on the Platynereis genome reveals that early animals had complex human-like genes, contradicting previous assumptions. The discovery sheds new light on human evolution and highlights the importance of preserving ancient genetic features.
Recent research findings on avian flu provide critical insight into the origin of pandemic influenza, highlighting two possible mechanisms: direct transmission from birds to humans or reassortment with human strains. This knowledge can help scientists track virus adaptation and inform global surveillance efforts and vaccine development.
A 'Perception' gene tracked by scientists suggests regulation of this gene played a crucial role in the evolution of modern humans' mental capacity. The gene, prodynorphin, is implicated in pain perception, social attachment, learning and memory.
Researchers identified the DCDC2 gene as a significant contributor to dyslexia, disrupting brain circuitry that enables reading. The study's findings have the potential to lead to early and accurate diagnoses, as well as more effective educational programs for individuals with dyslexia.
A DNA vaccine could be a powerful tool to combat the 'bird flu' pandemic, potentially produced in as little as two or three weeks. The technique is largely untested in humans, but it might help slow the spread of the disease if enough conventional vaccines aren't available.
A recent study by Yale University researchers has discovered a gene that controls the severity of asthma, finding that high production variants of the macrophage migration inhibitory factor (MIF) gene are associated with severe disease. The study used mice models and human data to support an important role for MIF in asthma pathogenesis.
The study highlights the complex interplay between genetic and environmental factors in determining human aging. While there is no single gene responsible for aging, genetics account for approximately 25% of how a person ages, with stress, environment, nutrition, lifestyle, and immunity also playing significant roles.
Recent studies suggest that major variants in genes Microcephalin and ASPM are evolving under strong natural selection in modern human populations. These genetic changes may have emerged as a result of cultural evolution and the spread of agriculture and written language, coinciding with key milestones in human history.
Two genes, microcephalin and ASPM, linked to brain size have continued to evolve rapidly in humans over the past 37,000 and 5,800 years, respectively. These genetic variants are favored by natural selection and occur more frequently in certain populations.
Researchers at UCSD advocate for standardized, humane guidelines for studying captive great apes, emphasizing the need for specialized care and data management. They propose a national network of facilities to support this effort, which could contribute to the survival of great ape species.
Researchers found that human Y chromosome retained its genes despite chimp's mutation, likely due to human monogamy. The study suggests natural selection preserved regions of the Y with self-repair mechanisms.
The chimpanzee genome's remarkable closeness to the human genome will make it a powerful tool for comparative genetics. The analysis reveals genetic changes that prompted the chimp-human species divergence and provides insight into how evolution has continued since then.
Researchers found that large-scale segmental duplications account for 2.7% of the human genome, while single base-pair changes make up only 1.2%. These duplication events have altered gene expression, with some segments implicated in human developmental disorders such as spinal muscular atrophy and Prader-Willi syndrome.
A recent archaeological comparison of genetic traits indicates that Moche sacrificial victims were not local elite, but rather warriors captured from nearby valleys. This finding suggests territorial conflict and competition among Moche populations in each valley.
Researchers at Joslin Diabetes Center have identified a new gene, ARNT, that plays a crucial role in the development of type 2 diabetes. The study, which used DNA chips to analyze islet cells from patients with the disease, found a marked down-regulation of ARNT, suggesting a possible new target for treatment.
Researchers have achieved a cure for haemophilia in dogs using gene transfer strategies. The study identified key problems to overcome before applying this approach in humans, including mode of delivery.
The study found age-related changes in gene expression in the human brain's cortex, but not in non-brain tissues. The results support a theory that DNA damage and protein degradation contribute to aging, with more metabolically active tissues showing greater gene activity reduction.
The UT Southwestern team will study how human cells respond to ionizing radiation in outer space, which can cause DNA damage leading to cancer. The research project aims to improve shielding material for spacecrafts and design safer spacesuits.
Researchers found that over half of the 46 known microRNAs are essential for development, affecting it in specific ways. MicroRNAs regulate fundamental processes such as body patterning, morphogenesis, and nervous system development.
A new promoter map has been created to understand how genes are controlled in fibroblasts, providing a framework for analysis of genetic control in other human cell types. The researchers discovered multiple promoters controlling single genes in parallel and found new DNA sequences not previously recognized as genes.
Researchers found that genetic manipulation of the fruitless gene in females led to classic male sexual behavior patterns, including courtship dances. The study suggests a strong biological basis for sexual behavior and orientation in animal species.
Researchers generated human skin tissue with cancer-associated genes to study melanoma development. They found that specific gene combinations, such as Ras and hTERT, induced invasive melanoma growth in human tissue.
Researchers have identified a new mechanism of resistance to CMV, involving the interaction between two genes that flag infected cells for destruction and allow Natural Killer cells to recognize and terminate them. This discovery increases the likelihood of therapies being developed to fight CMV.
Scientists have discovered that human cells use RNA silencing to defend against HIV, a phenomenon previously unknown in mammals. The discovery of a novel siRNA sequence that targets the HIV protein Tat may lead to the development of new RNAi-based drugs to combat the virus.
A comparative genetic study by Cornell University researchers found that some genetic mutations in human sperm cells may allow them to avoid early death and reproduce, but also increase the risk of cancer. The study suggests that these mutations could have led to a positive selection advantage, making humans more prone to cancer.
Researchers have identified a previously unknown quality control station in RNA synthesis that checks NTP loading to maintain accuracy. This discovery has significant implications for understanding cancer, viral infections, and normal human development.
Research suggests that embryonic nutrition can impact health outcomes, with adaptations set in place during fetal development potentially leading to benefits later in life. For example, meadow voles have coats thickened or thinned based on day length exposure in early pregnancy, with no immediate survival value but later benefits.
Researchers at UCSD map yeast gene circuitry to predict new functions and identify disease-causing combinations. The technique, which uses synthetic lethal interactions, could be applied to humans to develop more sophisticated drugs and gene therapies.
An international team has determined the complete genetic blueprint of Dictyostelium discoideum, a simple social amoeba long used by researchers to gain insight into human diseases. The genome contains nearly twice as many protein coding genes as previously thought and provides a new tool for studying human disease.
A study published in Developmental Cell identifies two genes, HES-1 and HLF, that regulate human blood stem cell behavior. These genes enhance cell-cycle progression and inhibit premature cell death in hematopoietic stem cells.
A new study using microarray technology has identified genes that distinguish between non-metastatic and highly metastatic breast cancer tumors. The research, led by Dr. David Tarin, used cell lines with varying capabilities to spread to distant organs and found that several genes were altered in expression patterns between the two typ...
Researchers found a key gene, sec15, that plays a crucial role in brain wiring and cell contact choices. The study used sophisticated genetics to analyze the fruit fly brain, revealing aberrant wiring patterns and protein misplacement in neurons lacking sec15.
The Genographic Project is a five-year global study of human migratory history, analyzing genetic samples from indigenous peoples and public participants. Researchers will use markers encoded into DNA to trace lineages, unveiling new aspects of family trees that persist through genes.
Researchers found no causative mutations in MEF2A gene among patients with premature coronary heart disease. This challenges the role of MEF2A in causing CAD and suggests another genetic variant may be responsible.
Phytome is a comprehensive database of genetic data on 39 plant species, including rice, wheat, and potatoes. The platform enables researchers to analyze complex questions about gene function and comparison across different species.
Researchers at UT Southwestern Medical Center found that deleting the Pcsk9 gene in mice increased LDL receptors and lowered LDL cholesterol levels. This discovery suggests new drugs targeting PCSK9 may be effective in lowering LDL cholesterol levels, particularly for individuals unable to take statins.
Researchers found that a gene controlling cholesterol production also senses oxygen levels, similar to human cells. This discovery offers a new strategy for killing infectious yeast while exploring potential connections between cholesterol and oxygen sensing in humans.
A study by Cardiff University found that males with attractive body odor produce peptides that increase their sexual attractiveness to females. The research suggests that smell plays a crucial role in choosing a partner, particularly for humans and fish, and may be linked to immune genes.
Research suggests that geographic distance from East Africa is a strong predictor of human genetic diversity, supporting the Recent African Origin model. Populations further away from Ethiopia display lower genetic variability, indicating a progressive loss of neutral genetic diversity as new areas were colonized.
Researchers have successfully replicated the hepatitis C virus (HCV) in a laboratory setting using a new in vitro model system. The system allows for the study of HCV therapeutics and the entire virus life cycle, including replication, assembly, and release from host cells.
The US Constitution offers a set of shared values that can help frame the debate on genetic engineering of humans, including promotion of welfare, science, and equal protection. Policymakers will likely debate the benefits and potential harm to future children and the public.
A new mapping effort captures most common human genetic variation across European American, African American, and Han Chinese American ancestry. The research provides a tool for exploring the causal role of common DNA variation in complex human traits.
A new study by UC researchers identifies the Slc39a8 gene as a key player in transporting toxic heavy metals like cadmium, which can cause tissue death and damage. The discovery has significant implications for understanding how nonessential heavy metals contribute to cancer and other diseases.
Researchers found that UTI-causing E.coli strains matched genetically with bacteria from cows and are resistant to antibiotics. The discovery has major public health implications due to the practice of administering subtherapeutic antibiotic doses in animals.
Researchers have developed a zebrafish model that shows human BRAF mutations can induce dramatic black pigmentation and aggressive melanomas. The study also found that p53 deficiency is crucial for melanoma development, providing new insights into melanoma genetics and drug development.
A study published in PLOS Biology found that E. coli bacteria, which reproduce symmetrically, have a reduced growth rate, decreased offspring formation, and increased risk of dying compared to cells inheriting new poles.
Researchers found stretches of DNA on chromosomes 7, 8 and 10 that were shared in 60% of gay brothers, suggesting a complex trait influenced by multiple genes and environmental factors. The study analyzed the genomes of 456 men from 146 families with two or more gay brothers.
Researchers successfully redirected human immune cells to target and kill cancer cells by introducing a specific gene that allows for high-affinity recognition of tumor-associated p53. This breakthrough approach holds promise for a novel, broad-spectrum immunotherapy for malignant diseases.
Alan Hall's work on Rho and Rac GTPases is crucial for understanding how epithelial tumour cells become metastatic. Svante Pääbo receives the Louis-Jeantet Prize for medicine to study genes involved in human evolution, including FOXP2 related to speech development.
Researchers discovered human brain evolution accelerated due to intense selection favoring complex cognitive abilities. Brain-related genes evolved faster in humans and macaques compared to rats and mice. Many genes, including those controlling brain size and behavior, were impacted by this selective process.
Researchers found that a diet-restricted group of mice showed a 50% reduction in beta-amyloid plaques, a substance linked to memory loss and Alzheimer's disease. The study, conducted with collaborators at the University of South Florida, used mice with human genes altered for early onset hereditary Alzheimer's.
The completed chicken genome provides invaluable information for studying the human genome due to its ideal evolutionary distance. Strong conservation in previously thought 'junk' DNA regions has been found, shedding light on their importance.
Researchers at Thomas Jefferson University used gene therapy to restore heart function in rats with failing hearts, reversing cardiac dysfunction. The study found that delivering the human S100A1 gene improved heart muscle efficiency and reversed cardiac dysfunction.