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.
Research suggests that different bacterial strains can provoke varied immune responses in humans, contradicting previous studies that used a single strain. This variability is contributed by viruses infecting the bacteria, and may help predict disease outcomes and tailor treatment.
A recent study by Clayton Lamb and colleagues found that higher road density in British Columbia leads to lower grizzly bear density, compromising the species' recovery. Closing roads can reduce the negative impact of roads on habitats, allowing bears to recolonize and recover.
A single gene variant can have a significant impact on human facial features, according to a new study published in Proceedings of the National Academy of Sciences. The research found three genetic variants tied to specific facial characteristics, including those related to steroid biosynthesis and mucolipidosis type IV.
Researchers discovered that zebrafish exhibit significant spatial memory impairment after a blow to the head, with slower reaction times to familiar environments. Genetic analysis identified key genes involved in brain cell proliferation and migration, offering new insights into potential human recovery strategies.
Researchers found that young male songbirds can overcome their genetic predisposition to sing like their fathers with enriched early experience. The study used Bengalese finches and found that exposure to a computerized tutor or live adult males reduced the genetic contribution to complex behaviors like birdsong.
Researchers found that human APOBEC3H strongly inhibited SIVcpz due to its resistance to Vif proteins. The study suggests that human APOBEC3H may protect against HIV-1 transmission from chimps, particularly in individuals with unstable forms of the protein.
Researchers at Case Western Reserve University discovered a gene that helps zebrafish convert water motion into electrical impulses, similar to human hearing. The shared gene allows fish to sense water flow direction and may also inform future studies on human hair cell mechanotransduction.
Researchers used CRISPR-Cas9 technology to disrupt a genetic mutation causing deafness in mice, preserving some hearing. The treatment reversed hair cell damage and improved inner ear function.
Researchers developed a statistical model to study the origin of genetic diversity in Amazonian sardines, revealing interactions between geographical distance, waterfalls, and floodplain size. The approach could be used for conservation strategies, helping to assess human impact on biodiversity in various ecosystems.
Recent study reveals directional selection on height, age at first birth, and body mass index in males, while stabilizing selection is detected for several traits in older adults. The findings shed light on the ongoing forces shaping human evolution.
A genetic analysis of 33 Candida glabrata strains found that they can reproduce sexually, exchanging genes that may lead to drug resistance. This discovery sheds light on the evolution of candidiasis and highlights the need for a more diverse approach in studying this pathogen.
A genetic mutation that occurred 700 million years ago may have facilitated the connection of gene networks involved in animal embryogenesis, leading to the formation of complex organs. This discovery highlights the importance of serendipity in evolution and the versatility of biological tools.
Recent studies reveal that humans left Africa multiple times prior to 60,000 years ago, interbred with other hominins in Eurasia, and left genetic traces in modern human populations. The analysis confirms the traditional 'Out of Africa' model can no longer be seen as the full story.
A team of international researchers from Kumamoto University and RIKEN mapped 60% of all developmental chicken TSSs to the most recent chicken genome, providing valuable genetic data for understanding human development. This achievement enables the application of CRISPR-on technology to activate specific genes during development.
A study by Wayne State University School of Medicine researchers found that sperm RNA elements can predict human health, potentially leading to improved fertility clinic predictions and better neonatal care outcomes. The discovery may also enable the development of preventive measures against diseases.
A team of scientists discovered that a major cause of variation between genetically identical C. elegans worms is their mother's age, particularly in younger mothers. The study found that the youngest mothers produce offspring with impaired characteristics such as size, growth rate, and starvation resistance.
A study published in the American Journal of Human Genetics reveals that earlobe attachment is influenced by an interplay of at least 49 genes. This complex genetics challenges traditional teaching methods, which often focus on dominant and recessive genes.
A new study sheds light on the origin of the SARS virus, finding that genetic recombination between viral strains in bats may have produced the direct evolutionary ancestor of the strain that caused a deadly outbreak. The study also identified strains capable of entering human cells.
A comparative analysis of primate brains found that humans exhibit unique differences in dopamine gene expression, particularly in the production of neurotransmitters like dopamine. These differences may contribute to aspects of cognition and behavior such as working memory, reasoning, and intelligence.
The UQ dipstick technology enables fast and accurate diagnosis of human, animal and plant diseases in remote locations. The technology extracts DNA and RNA from living organisms in under 30 seconds without specialized equipment or personnel.
Researchers found that fruit flies raised on a low protein diet during early life lived more than twice as long as those fed throughout on a standard diet. Adult flies release toxic lipids from their skin, which were less toxic if they ate a low-protein diet earlier in life.
Researchers deciphered molecular processes influencing aging by studying chromatin silencing in yeast, discovering a balance between open and closed states to maintain cell function and longevity. Continuous or complete loss of this balance accelerates aging.
Researchers found that prehistoric migration rates increased in three distinct pulses, coinciding with the spread of agriculture, Bronze Age advancements, and Iron Age population growth. This suggests a strong link between technological innovation and human mobility.
Researchers developed a CRISPR-based system, called REPAIR, which can edit single RNA letters in human cells. This new system has potential to treat diseases without permanently affecting the genome.
Researchers have developed a new enzyme called a base editor that can directly change DNA base pairs, enabling precise genome editing. This technology may one day enable the treatment of genetic diseases by erasing harmful mutations and writing in helpful ones.
A Korean research team created a comprehensive computational model of human metabolism, enabling accurate prediction of personal metabolic features. The model incorporates alternative splicing information and was validated with over 11,000 Gene-Transcript-Protein-Reaction Associations.
A new study analyzes genetic material from people in Western Asia, identifying DNA sequences inherited from Neanderthals. The research suggests that this region is the most likely spot where humans first encountered Neanderthals, with implications for human health and well-being.
Researchers used multi-omics profiling to study prediabetic individuals, finding that each person has a unique molecular profile. The study aimed to develop personalized approaches to prevent diseases like diabetes by analyzing environmental stressors and lifestyle factors.
A survey of genetics professionals found high support for research into somatic uses of gene editing, but more divided views on germline uses. Most geneticists felt it would be acceptable for therapeutic purposes in the future, differing from public opinions.
Researchers found duplications of noncoding DNA that may explain genetic contributions to human disease and evolution. These duplications, which include regulatory sequences, may have impacted the expression of genes nearby or elsewhere in the genome.
Scientists at Columbia's Zuckerman Institute are creating an atlas of gene activity for all cells in the human spinal cord. The single-cell atlas will help researchers understand and treat spinal-cord disease and injury, including ALS.
Researchers at LMU's Gene Center found that human cells use a different mechanism to recognize misplaced DNA than mouse cells. The inflammasome complex is activated via the cGAS-STING recognition mechanism, triggering both an antiviral response and a classical inflammatory reaction.
Researchers discovered 96 transcription regulatory sequences (TRSs) used by arterivirus Simian hemorrhagic fever virus to produce subgenomic messenger RNAs, exceeding the previously reported nine TRSs. The study found that multiple TRSs are involved in producing structural proteins and alternative reading frames.
A new study from Scripps Research Institute found that sleep loss cannot be explained by caffeine intake alone, but rather by changes in feeding behavior. The research suggests that studying sleep and eating together could lead to the development of therapies for metabolic disorders like obesity and diabetes.
McGill researchers uncover a cellular mechanism contributing to communication breakdown between neurons in Alzheimer's disease. They found inadequate levels of the protein RBFOX1, which stabilizes RNAs involved in synaptic transmission, may be a factor in faulty connections characteristic of Alzheimer's.
The National Institutes of Health has completed a detailed atlas documenting the stretches of human DNA that influence gene expression across various tissues and cell types. This resource will aid researchers in understanding how individual genomic variation leads to biological differences, such as healthy and diseased states.
Researchers identified genes linked to insulin secretion, immunity, and ultraviolet protection that showed adaptive selection in African dogs. The study found functional verification of ADGRE1's role in providing host immunity to Plasmodium infection.
Researchers discovered that LSD1 removal in adult mice induces changes in gene activity similar to Alzheimer's disease. LSD1 protein is also perturbed in human brain samples with Alzheimer's and FTD, suggesting it as a central player in these neurodegenerative diseases.
A new computer program called SCENIC enables researchers to quickly and accurately identify different cell types in the human body. The method helps understand how cell fate is regulated and could lead to the discovery of master regulators and potential drug targets.
Researchers found that prehistoric humans deliberately sought partners beyond immediate family to avoid inbreeding. This suggests they developed complex mating systems, possibly foreshadowing modern marriage ceremonies, which may have contributed to their success.
Researchers have identified proteins that control cell complexity in animals, revealing a key difference between humans and simpler organisms like fruit flies and sea urchins. The study found that specific genes interact with chromatin to regulate cellular processes, contributing to the increased complexity of mammals.
Ancient African genomes show human populations diverged around 350,000-260,000 years ago. The study analyzed 7 ancient genomes, including a Stone Age hunter-gatherer and Iron Age farmers, finding correlations with fossil records.
A new study has pushed back the emergence of modern humans by an estimated 50,000 years to between 350,000 and 260,000 years ago. The findings were made possible by a collaboration between geneticists and archaeologists who reconstructed the full genome of a 2,000-year-old boy found in South Africa.
A genomic analysis of ancient human remains from KwaZulu-Natal reveals that southern Africa played a significant role in the history of humankind. The study estimates the divergence among modern humans to have occurred between 350,000 and 260,000 years ago.
A special issue in the Journal of Dental Research explores recent scientific and technical advances in craniofacial development and genetics. The discoveries reported could improve diagnosis and treatment of challenging craniofacial and dental anomalies.
Researchers have discovered that the presence of ApoE4 exacerbates brain damage caused by tau tangles, leading to neurodegeneration and memory loss. Blocking ApoE4 in the brain may prevent these effects, offering a new potential therapeutic target for Alzheimer's disease.
A genetic analysis of Papua New Guinea reveals a sharp genetic divide between highlanders and lowlanders, dating back 10,000 to 20,000 years. The study, led by Anders Bergström, genotyped 381 individuals from 85 language groups across PNG, finding strong genetic differentiation within both highland and lowland populations.
A study published in mBio finds that household environment plays a major role in shaping the salivary microbiome, with similar bacteria found in individuals living together. The research team sequenced DNA and saliva from an extended Ashkenazi Jewish family to determine how environmental influences affect the microbiome.
A study has characterized all of the circular DNA in the worm <em>C. elegans</em> and three human cell types, revealing different sets of circles in different cell varieties. The researchers used a 50-year-old lab technique called density gradient centrifugation to separate and purify the circular DNA.
Researchers have discovered a new type of glycan that survives in 4 million-year-old animal fossils from Kenya. This breakthrough could reveal human origins and diet, including the consumption of red meat. Gc-CS detection may classify ancient hominin fossils into two groups.
Researchers have engineered gut bacteria to produce molecules that mimic human ligands, binding to receptors involved in glucose and appetite regulation. This breakthrough may lead to novel therapeutic approaches for diseases such as diabetes and obesity.
A study by Stanford researchers found that a widely used mouse model of the human immune system is inadequate for studying stem cell transplants. The humanized mice, engineered to have a human-like immune system, failed to robustly reject genetically mismatched human stem cells, making them unsuitable for studying immunosuppressive drugs.
A study identified a genetic risk factor for typhoid fever that targets bacterial virulence and cholesterol metabolism. The VAC14 gene variant reduces the ability of Salmonella Typhi to invade human cells, suggesting a potential preventive approach with cholesterol-lowering drugs.
Scientists have created healthy offspring from genetically infertile male mice using a new technique that removes the extra sex chromosome. The approach has potential for treating human infertility caused by Klinefelter syndrome and Double Y syndrome.
University at Buffalo researchers have developed a method to compare human and rodent cells, providing insight into gene expression patterns conserved across species. This approach identified a new gene involved in myelin repair that may become a therapeutic target for MS patients.
University of Nevada, Reno researchers are developing mosquitoes that can detect and avoid human odors, potentially breaking the transmission cycle of mosquito-borne diseases. The goal is to create genetically modified mosquitoes that feed on other animals, reducing resistance development.
Researchers at Salk Institute have visualized chromatin structure in living human cells using a novel DNA dye and advanced microscopy. They found that chromatin forms a semi-flexible chain with varying packing density, suggesting that gene activity is determined by compaction rather than higher-order structures.
A study of 116,279 individuals found 16 genetic markers associated with human lifespan, including 14 new to science. Lower brain expression of certain genes is also linked to increased longevity.
Researchers developed a new approach to model human immune variation, identifying gene markers that correlate with human disease outcomes. The study found that accounting for immune diversity is critical for predicting disease outcomes.
Researchers have found evidence of archaic admixture in modern Sub-Saharan African populations through the study of a salivary protein called MUC7. This suggests that interbreeding between different early hominin species may not have been unusual, but rather the norm.