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 new study reveals the earliest known interbreeding event between ancient human populations, dating back to around 700,000 years ago. The super-archaics in Eurasia interbred with Neanderthal-Denisovan ancestors, providing insights into human migration out of Africa and into Eurasia.
A recent study by the University of California, Riverside found that e-cigarette users have elevated biomarkers of exposure and potential harm, including zinc excess correlated with oxidative DNA damage. The study highlights the risks of prolonged e-cigarette use and advises physicians to exercise caution when recommending e-cigarettes.
African pastoralists, specifically the Himba community, exhibit a remarkably high rate of extra-pair paternity, with 48% of children fathered by non-marital partners. The study highlights how social norms support this practice, unlike in many Western societies where it is stigmatized.
Researchers studied Hydractinia's unique ability to produce germ cells nonstop throughout its life. The study found that the gene Tfap2 controls perpetual germ cell production in this animal, a process similar to humans but with distinct differences. This discovery could provide clues to human reproductive disorders.
Researchers question the idea that human language arose instantaneously through a single gene mutation, proposing instead a gradual evolution through accumulation of smaller biological changes. They argue that the cognitive operation Merge, key to human language, evolved gradually over time.
Researchers found that healthy cells clear harmful aggregates via endocytosis, a process previously thought to occur only on external substances. This discovery could lead to improved treatments for ALS by increasing the efficiency of endocytosis. The next step is to develop ways to enhance this process using genetic and chemical methods.
Researchers at Penn Medicine discovered that changes in DNA sequence can trigger chromatin misfolding in white blood cells, increasing the risk of developing Type 1 diabetes. The study found that these misfolded regions occur before the disease onset and may serve as a diagnostic tool.
Researchers have identified similarities between canine and human gliomas, including genetic mutations and immune system features. These findings suggest that studying dog brain tumors may provide insights into human glioma treatments, particularly in children.
Researchers at UC San Diego created transgenic fruit flies to study the effects of CDTa toxin on host cells, revealing a collapse of networks essential for nutrient absorption. The fly model mimics symptoms in human C. difficile-infected patients, offering a potential avenue for novel therapies.
A new study by Washington University in St. Louis reveals that many families at risk for Vitamin A deficiency can't grow Golden Rice, while commercial farmers won't plant it due to its breeding into existing lowland rice varieties.
Research finds that Amazon trees contain detailed records of human activities, including native culture and colonial occupation. The study reveals how trees respond to human activity and can live for hundreds of years, registering impacts on the surrounding ecosystem.
Researchers have discovered that modern Africans carry Neanderthal DNA, contradicting previous assumptions about the geographic isolation of Neanderthals and ancestral African populations. The study also sheds light on the origin of Neanderthal sequences in Africans, revealing a history of human migration and gene flow.
Researchers analyzed genetics of schizophrenia in South African Xhosa population, finding rare genetic mutations linked to the disorder. The study sheds light on potential mechanisms for effective treatments and informs understanding of schizophrenia across human populations.
Researchers found participants with schizophrenia carry damaging genetic mutations affecting brain and synaptic function, disrupting neural pathways that elevate risk. This discovery informs understanding of schizophrenia across human populations and suggests potential mechanisms for more effective treatments.
Researchers have found that a hormone required for insect sexual maturity cannot freely pass through the blood-brain barrier unless aided by a protein molecule. This discovery opens up new possibilities for controlling mosquito populations and potentially boosting beneficial bee reproduction. The study's findings also suggest potential...
Researchers found that African lions' genetic diversity loss in the KAZA region was caused by their need to adapt to different habitats. This suggests that ecological factors, rather than human impacts, are responsible for this loss. The study's findings have important implications for wildlife conservation managers.
The study reveals new insights into the origins of Bantu languages, previously unknown populations, and human migration patterns. The ancient DNA sequences from west and central Africa enhance our understanding of the deep ancestral relationships among populations in sub-Saharan Africa.
Scientists at UChicago discovered a previously unknown mechanism where RNA itself affects DNA transcription using a chemical process. This breakthrough has significant implications for understanding human disease and drug design.
A study led by University at Buffalo biologist Shermali Gunawardena has explored the properties of alpha-synuclein, a protein associated with Parkinson's disease. The research suggests that deleting a specific region of the protein may help prevent key problems that occur when too much alpha-synuclein is produced.
Researchers studied male chimpanzees' social relationships, finding strong bonds with maternal brothers and old males, including biological fathers. This challenges the idea that pair bonds evolved first in humans, suggesting elements of fatherhood may have arisen earlier in a similar social system.
Researchers at MDI Biological Laboratory identify two major pathways governing aging in C. elegans, which when combined, amplify lifespan fivefold. This discovery could lead to the development of combination therapies to extend human healthy lifespan.
Researchers developed an adeno-associated virus vector to deliver anti-pTau antibodies directly into the hippocampus of mouse models with CTE, reducing pTau levels across the CNS. The study suggests this strategy could be effective in humans and may offer a new treatment option for CTE.
A new study by researchers at Linköping University found that a diet rich in sugar can rapidly affect sperm motility and quality. After two weeks of consumption, the sperm motility of all participants became normal, suggesting a close link between diet and fertility.
Researchers found domestic animals share viruses with many species, enabling pathways for future disease emergence. Ungulates play a central role in spreading both RNA and DNA viruses.
A recent study found that the effective population size and genetic diversity of the Sunda fruit bat have shrunk significantly due to urbanization and human-mediated changes. The research team analyzed DNA samples from 1931 and 2011, revealing a nearly 30-fold reduction in genetic diversity.
A recent study identified distinct gene signatures associated with memory creation, found in cortical and subcortical regions of the brain. These genes play crucial roles in memory processes, immune signaling, neuronal generation, and mRNA production.
A study from the Salk Institute identified over 2,000 previously unknown small open reading frames (smORFs) in human cell lines, expanding the number of human genes by 10%. These tiny genetic sequences may hold key to understanding human biology and developing new treatments for diseases like cancer and diabetes.
A specialized system of ducts transports bile and enzymes from the liver and pancreas to the intestine. The study revealed a multi-step process for duct formation, with key genes controlling the development of these ducts.
Researchers made progress in understanding protein conformation and accumulation in familial ALS, a devastating neurodegenerative disorder affecting 1-3 individuals per 100,000. The study sheds light on the interaction between normal and mutant Sod1 proteins, revealing misfolding as a central problem in ALS.
A study suggests that immunity-related genes from ancient times may be protecting humans today against modern pollutants like cigarette smoke and diesel fumes. Researchers found that certain genes, such as AHR, have been beneficial in responding to airborne toxins for thousands of years.
Scientists have characterised genetic alterations caused by six cancer therapies, revealing 'mutational footprints' that can help optimize treatment efficacy and minimize side effects. The study provides a new understanding of the relationship between therapy-induced mutations and long-term side effects.
Researchers from Arizona State University uncover the structure and function of plant telomerase RNA, a 'missing link' between ciliates and humans. This discovery may hold promise for extending human lifespan and improving health in elderly individuals by understanding the regulation of telomerase enzyme.
Researchers discovered that human saliva is more watery and contains distinct protein profiles compared to chimpanzees and gorillas. The differences are attributed to varying diets, with human saliva being effective at breaking down starch and fat.
A study reveals that bats can transmit filoviruses to humans during bat-hunting festivals in Nagaland. The team found antibodies against two distinct filoviruses in human and bat blood samples, suggesting bats are the source of viral spillover events.
The study reveals that anatomically modern humans (Homo sapiens sapiens) first appeared in a southern African homeland and thrived there for 70,000 years. The researchers used mitochondrial DNA to reconstruct the earliest human population history, suggesting that climate changes triggered early migrations.
Researchers identified how specific genes dictate hair cell patterns in zebrafish, shedding light on mechanisms behind congenital hearing loss in humans. The study found that genetic alterations can lead to circular or spiral patterns in hair cells, providing new directions for tackling congenital hearing problems.
Researchers at McGill University found that human activities are altering genetic variation in thousands of animal species, including birds, fish, insects, and mammals. The loss of genetic diversity may hinder species' ability to adapt to changing environments, potentially leading to extinctions.
A major new study reveals how socio-economic migration within the UK has affected the geographic distribution of human DNA linked to traits such as education levels and health. Regional variations in human DNA have long been known to reflect distant ancestry differences.
A new meta-analysis found that fabella prevalence varies by region (Asia > Africa), age (older individuals more likely) and sex (men more likely). Fabellae can ossify in people of almost any age, from children to adults over 70.
Researchers analyzed human and chimpanzee cerebral organoids to understand dynamic gene expression and regulation in early brain development. They identified human-specific gene expression patterns and developmental differences in the adult prefrontal cortex.
Human saliva has distinct differences in protein content and structure compared to other primates, with a waterier consistency and higher amounts of enzymes and proteins involved in digestion and defense. These findings suggest that our diet and evolutionary adaptations played a significant role in shaping our unique saliva.
Researchers reconstructed a 50,000-year-old gene sequence that enabled the malaria parasite Plasmodium falciparum to infect human red blood cells. The study reveals how the parasite jumped from gorillas to humans and provides a plausible molecular explanation for the jump.
Researchers sequenced genomes from 426 individuals across 13 African countries, revealing impressive genomic diversity and unique genetic variants among ethnolinguistic groups. The study sheds light on the impact of ancestral migration, cultural demography, and infectious disease on the human genome.
The University of Texas at Arlington researcher is using Daphnia, a freshwater microcrustacean, to study the genetic mechanisms of parthenogenesis and its implications for human reproductive health. The study aims to understand how environmental conditions affect the switch between sexual and asexual reproduction in these animals.
Biologists study flies to understand how chromosomes fold up in microscopic cells, finding that certain regions 'button' together easily while others don't. This discovery lays the foundation for better understanding human development and gene expression, particularly in cases of genetic anomalies leading to disease.
Aric Rogers' research on cellular and molecular mechanisms governing aging aims to develop new therapies for sarcopenia and age-related diseases. The grant will support further research on the genetic pathways that regulate dietary restriction, which has shown to extend healthy lifespan in various organisms.
A new study demonstrates DNA metabarcoding can amplify and sequence plant DNA from human stool, tracking dietary intake with high accuracy. The method has potential for characterizing animal and fungal components of human diets, offering a promising alternative to traditional assessment techniques.
Researchers argue that viewing past human populations as discrete branches on an evolutionary tree is misleading and instead propose a dynamic changes in connectivity model, which better explains genetic diversity and fossil records. This shift in understanding could address complex questions in human evolutionary studies.
Researchers at Indiana University found similar clustering of DNA in humans and archaeal chromosomes, which can affect gene expression. The discovery supports the use of archaea in studying human diseases related to errors in cellular gene expression.
A recent study found that modern humans acquired a gene variant from Denisovans that increases immune reactions and protective responses to disease-causing microbes. The Denisovan gene variant, I207L, was discovered in families with severe autoimmune conditions and was also present in an extinct human species found in the Altai Mountains.
Researchers at the University of Miami discovered that fruit flies have an innate time- and color-dependent preference for light, contrary to decades-long assumption that they are attracted to blue light. The study found that fruit flies prefer green light early in the morning and late afternoon, and avoid blue light throughout the day.
A new study reveals that APOE4, the strongest genetic risk factor for Alzheimer's disease, impairs the function of human brain immune cells, microglia. This impairment increases inflammation and reduces their ability to remove toxic amyloid from the brain.
A study published in Nature Communications reveals that inherited germline variations and somatic mutations interact to determine the course of Ewing sarcoma disease. The research, led by Dr. Thomas Grünewald, shows how genetic context influences tumor growth and progression.
Researchers discovered fungal communities in fetal gut, finding evidence of gradual natural colonization before birth. The study's findings suggest microbial components play important roles in human health and development.
The book explores the social and ethical implications of gene editing on human germline cells, including its impact on relationships between parents and children, health, normalcy, and well-being. Leading thinkers weigh in on the potential risks and benefits of this revolutionary technology.
Researchers at Kyoto University discovered that fruit flies can thrive on various diets due to their flexible response to carbohydrates. In contrast, genetic cousins of the fruit fly are 'nutritional specialists' and can only grow on specific plants. The study sheds light on how organisms adapt to different nutritional environments.
A comprehensive genetic map reveals Scotland is divided into six clusters, mirroring ancient kingdoms such as Strathclyde and Pictland. This analysis could aid the discovery of rare DNA differences related to human disease.
Researchers have identified a receptor protein that can detect extreme cold temperatures in creatures. The study found that the glr-3 gene, responsible for making the GLR-3 receptor protein, is required for worms to sense cold temperatures and is evolutionarily conserved across species.
A 'Dream Team' of scientists has received a grant to develop powerful tools for manipulating genes in the blind Mexican cavefish, a model system for studying human diseases. The project aims to create precise gene expression and function through genomic tools commonly used in other fish models.
Researchers create a 'clock in a dish' to study human developmental timing, replicating a genetic mutation linked to spondylocostal dysotosis. This breakthrough provides insight into the hard-wired timing within cells and may accelerate cell development for clinical benefit.