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 American Society of Human Genetics has honored Dr. Arthur L. Beaudet with the Victor A. McKusick Leadership Award, recognizing his groundbreaking work on uniparental disomy and its implications for genetic diseases. His current research focuses on neuronal carnitine deficiency as a risk factor for autism.
Forensic scientists at Nagoya University have successfully extracted human DNA from mosquitoes' stomachs and amplified it using PCR techniques. The team found that human DNA remained viable in mosquito blood for up to two days after feeding, providing a new tool for crime scene investigators.
Researchers found dosage compensation to be widespread in butterflies and moths, with consistent expression of Z-linked genes between sexes. However, gonads showed imbalance due to masculinization of the Z chromosome and loss of female-biased genes.
Researchers have identified a specific gene mutation in myopathy, a type of muscle disease, and found it plays an essential role in muscle fibre integrity. The study uses a zebrafish model to provide new insights into the genetic basis of the disease.
The study suggests that a hominin migration out of Africa occurred between 470,000 and 220,000 years ago, introducing their mitochondrial DNA to the Neanderthal population. This event reconciles discrepancies in nuclear and mitochondrial DNA phylogenies, providing new insights into human evolution.
A single genetic change linked to reduced human height is also associated with an increased risk of osteoarthritis. The variant has been positively selected in many human populations, suggesting it may have provided a survival advantage in colder climates.
A team of investigators discovered a genetic program that some cancers use to cloak themselves from the immune system, affecting detection and treatment outcomes. The research highlights potential new immunotherapy targets and biomarkers for cancer survival.
Researchers have identified a crucial protein, CIB2, essential for sound wave conversion into brain signals in the inner ear. The study reveals how this protein facilitates mechanotransduction, enabling people to interpret sounds.
A team of scientists has documented early, permanent human settlement in the Andes dating back to around 8,000 years ago. The findings suggest that hunter-gatherers adapted to high-elevation life and survived year-round despite harsh conditions.
A recent study has found that the HERV-K Gag capsid interferes with HIV-1 assembly, resulting in reduced particle release and infectivity. The researchers observed a correlation between coassembly of HERV-K Gag and decreased HIV-1 particle formation.
Researchers found genes that form heart cells in humans and animals in a sea anemone's gut, which may help explain its regenerative abilities. The study suggests potential for tweaking human gene communication to stimulate regenerative healing and treat heart conditions.
Researchers computationally recreated ancient chromosomes of the first eutherian mammal, revealing chromosomal changes that occurred over 105 million years. The study provides a detailed picture of evolutionary breakpoints and their role in forming new species and contributing to human diseases like cancer.
A study found that chronic immune-mediated inflammatory diseases are linked to a higher prevalence of cardiovascular disease in patients. The research identified specific genetic patterns associated with cardiovascular disease risk across different chronic IMID patient groups, which could lead to the development of more efficient preve...
A team of scientists has identified genetic mutations that could potentially allow the bird flu strain H7N9 to spread between humans. The researchers found that certain mutations in a key protein could enable the virus to latch onto human cells, sparking concerns about a potential pandemic.
Researchers bioengineered human liver tissues that exhibit previously unknown genetic-molecular crosstalk controlling developmental processes. The study reveals key communication between signaling proteins and receptors that instruct the development of liver tissues.
Researchers have identified the mouse lemur as an ideal model for studying primate biology and human diseases such as cardiovascular disease and Alzheimer's. The study, which involved analyzing hundreds of lemurs in Madagascar, has already revealed unique genetic traits including obesity and progressive eye disease.
The Human Cell Atlas is using sequencing technology to redefine every cell in the body. The platform will allow scientists to share and analyze vast amounts of diverse information generated by researchers across academia and industry.
Researchers aim to genetically modify human bone marrow cells to produce more bone morphogenetic protein, a key factor in bone healing, to tackle challenging bone repairs such as extensive fractures and failed spinal fusions. The five-year grant will support the study's efficacy and safety assessment.
A research team has identified the HAND2 gene as a key regulator that triggers the formation of cardiac valves in mouse embryos. This discovery advances our molecular knowledge of cardiac valve development and may also help provide genetic diagnosis for patients with congenital heart malformations.
A team of researchers discovered that C. elegans makes decisions by calculating mathematical integration of environmental information via calcium ion concentration changes in nerve cells. This process is similar to the human brain's integration of information for decision-making, suggesting a possible genetic link between the two.
A new genomic study on southern Mediterranean populations from Sicily and Southern Italy reveals a shared genetic background extending to Cyprus, Crete, Anatolia, and the Aegean islands. This shared Mediterranean ancestry may have originated in prehistoric times as a result of multiple migration waves.
Researchers have found that microbes manipulate the molecular machinery of animal cells, triggering patterns of gene expression associated with health and disease. The study suggests ancient parts of the genome and interactions with microbes are relevant to modern-day human diseases.
Scientists have successfully generated blood-forming stem cells in the lab using pluripotent stem cells from patients' own cells. The advance opens up new opportunities to create immune-matched blood cells and potentially treat genetic blood disorders.
According to Rutgers University researcher John McGann, humans can detect and discriminate an extraordinary range of odors, rivaling that of rodents and dogs. The human olfactory bulb is similar in size and number of neurons to other mammals, challenging the long-held misconception about human sense of smell.
Researchers have discovered a more favorable virus species for delivering genes, as its surface structure avoids liver toxicity. This could enable the use of viruses in gene therapies and vaccine development.
Researchers have identified the origins of Indian populations by analyzing genetic evidence from people alive in the Subcontinent today. The study reveals that hunter-gatherer groups arrived from Africa more than 50,000 years ago, while later waves of settlement came from Iran and Central Asia.
A recent study suggests that fructans in wheat plants hold the key to developing climate-resilient varieties with increased nutritional value. The authors propose using fructans as a breeding target to create healthier and more resilient wheat varieties.
A new study examining the muscles of bonobos found they are more closely related to humans than common chimpanzees. This is the first study to compare the anatomy of the three species, providing evidence for a possible link between bonobos and human ancestors.
Scientists at Max-Planck Institute develop new method to retrieve hominin DNA from cave sediments, revealing genetic affiliations of ancient humans. The discovery sheds light on human evolution, allowing researchers to uncover the genetic history of extinct species like Neandertals and Denisovans.
Researchers created a new model to study how chlamydia interacts with the human immune system, identifying key players IRF5 and IL-10RA. The results suggest these genes could be drug targets for new treatments.
Researchers at Babraham Institute and European Bioinformatics Institute identified a mouse epigenetic ageing clock, which shows age-related changes in DNA methylation. The accuracy of the mouse clock is surprisingly similar to humans, with lifestyle interventions affecting ticking rate.
Researchers have recorded spring fish migrations by analyzing DNA in water samples, providing a harmless and economical alternative to traditional methods. The study's findings suggest that environmental DNA can be used to monitor fish populations, estimate abundance, and track distribution.
Researchers explore effects of human-provided foods on large predators, finding changes in social structures, movements, and behavior. Human-fed populations often form distinct genetic subgroups, potentially leading to future speciation events.
Scientists at St. Jude Children's Research Hospital have successfully regenerated auditory hair cells in adult mice using genetic manipulation. The research marks a significant step towards treating hearing loss in humans, which affects millions worldwide.
A study on fruit flies found that a gene called THADA plays a key role in regulating metabolism and energy storage, which may have relevance to human obesity and cold tolerance. The researchers observed that THADA knockout flies were more sensitive to cold and had slower metabolisms, leading to obesity.
Researchers at Uppsala University discovered two independent mutations required for the development of sex-linked barring in chickens, a pattern resembling the common cuckoo's plumage. The study sheds light on the genetic mechanisms behind colour variation and pigmentation in birds.
Researchers have identified a key gene in zebrafish that causes congenital blindness, which could hold the key to treating a similar disease in humans. The study found that the gene affects cone photoreceptors and leads to degeneration without impacting rod cells.
Researchers at Washington State University have identified a key gene involved in the quality of sleep experienced by humans and animals. The study found that a variant of the gene FABP7 is associated with poorer sleep quality, suggesting its importance in regulating sleep across species.
A new study of ancient DNA from northwest North America finds evidence of genetic continuity spanning over 10,000 years. The research suggests that indigenous groups living today in southern Alaska and British Columbia are descendants of the first humans to inhabit the region, supporting their oral traditions.
A UMD study found fruit flies taking naps had strongest resistance to fungal infection and bacteria Pseudomonas aeruginosa, which is a major human disease-causing agent. The research identified genes that contribute to overall immune system resistance, providing new insights into human health.
A recent study found that longer telomeres in mice may shield them from age-related human diseases. Researchers used mice with shortened telomeres to examine a genetic defect causing an age-associated congenital heart disease in humans. The findings suggest that decreasing telomere length contributes to the onset of age-related diseases.
Researchers developed a modified Hi-C technique to identify incorrect scaffold positions and anchor sequences, achieving 99% genome assembly accuracy for human genomes. The technique was applied to assemble the genomes of two mosquito species, revealing shared ancestry that could aid in controlling disease-carrying vectors.
Archaeological excavations in northern Taiwan have uncovered significant evidence of early European presence and influence, contradicting long-held theories. The site, once a Spanish colony, now suggests that Taiwan played a crucial role as a globalized hub during the 17th century.
Researchers captured the first steps of human DNA replication in unprecedented detail, revealing how proteins orchestrate the process. The study sheds light on crucial mechanisms, including ATP usage and protein interactions, which may help prevent diseases like Meier-Gorlin Syndrome.
The study found that nose width is strongly correlated with temperature and humidity levels in different climates, suggesting a role for natural selection in shaping nose shape. The researchers also identified differences between men and women in nose features across populations.
A study on European populations reveals genetic adaptations to dietary changes, influencing the production of vital fatty acids. The findings suggest that Europeans are adapting to a diet rich in plant-derived fats, while those with high animal fat intake produce more long-chain PUFAs.
A study published in PLOS Genetics found that nose size and shape are linked to differences in ancestral temperature and humidity levels. Wider nostrils were correlated with ancestors who lived in warmer climates, suggesting a role for climate in shaping human nasal evolution.
Researchers have developed a technique to precisely track the replication of yellow fever virus in individual host immune cells. The method could aid in the development of new vaccines against a range of viruses, including Dengue and Zika.
Researchers have mapped how proteins bind along DNA to control gene activity in the bladder lining, revealing a complex interaction between transcription factors. This understanding could lead to new treatments for chronic bladder diseases such as interstitial cystitis and cancer.
The European Centre for Disease Prevention and Control (ECDC) has found no evidence of increased transmissibility or sustainable human-to-human transmission of the highly pathogenic A(H7N9) virus. New genetic mutations have been detected, but their impact on poultry and human risk remains unclear.
A study by the University of Bonn found that shorter men have an increased risk of becoming bald prematurely, linked to genetic alterations in the human genome. The research identified 63 genes that increase the risk of premature hair loss, often accompanied by other characteristics and illnesses.
Researchers propose that naked mole-rats' exceptional longevity is due to slowing individual development, resulting in a longer youth period and decelerated aging. Similarly, human data suggests a similar slowdown in the 'Master Biological Clock', leading to increased lifespan and prolonged youth.
New study suggests that ancient humans entered South America in at least two waves of population dispersals from Asia. The findings, published in Science Advances, rely on a pioneering method to analyze cranial morphology and contemporary genomic data, providing new insights into the complex narrative of human migration.
A University of Toronto study has identified a gene that may strongly influence obesity in humans, similar to the foraging gene found in fruit flies. The study reveals that the human version of this gene plays multiple roles in feeding and metabolism.
The ethics of gene editing is being explored in a session at the AAAS annual meeting, examining concerns beyond safety, such as modifying the human germline, parental relationships, and respect for persons with disability. Experts will discuss new technologies and their social and ethical implications.
A study analyzing over 100 linguistic features suggests complex patterns of contact and migration among early Americans. The diversity of languages in the Americas is unprecedented, with many isolates having no demonstrable connection to other languages.
Researchers found that inhibiting intestinal protein NCoR1 breaks down bilirubin, eliminating signs of severe neonatal hyperbilirubinemia in mice. This discovery could lead to new therapeutic approaches for preventing or treating the condition.
A study led by Berkeley Lab researchers found that newborn mice exposed to thirdhand smoke weighed less and had altered blood cell counts, which persisted even after exposure ended. The findings suggest that the lingering residue of tobacco smoke could be harmful to human health, particularly for babies and toddlers.
Researchers at Whitehead Institute have identified essential genes in human cancer cells, revealing potential vulnerabilities for new therapies. By analyzing genetic interactions, they discovered a genetically defined subset of cancers that could be exploited with existing treatments.
Researchers discovered 83 genetic variations affecting adult height by more than 2 centimeters, influencing bone and cartilage development. The study's findings may help identify genetic variations that influence common diseases and develop personalized treatments.