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 discovered a single-letter change in DNA that alters the way zebrafish build their spines, leading to shorter bodies and tortured-looking spines. This mutation has similarities with fossil specimens of ancestral fish, revealing insights into spine evolution and development.
Scientists have discovered that inserting the Nix gene in female Aedes aegypti mosquitoes converts them to fertile males, which could aid in mosquito control strategies. The converted males cannot fly due to the lack of another essential gene, myo-sex.
TARA's in vitro human cardiac models replicate drug responses similar to those observed in humans, supporting their use as a robust platform for new medicines evaluation. The models' ability to reproduce diverse mechanisms of action showcases their applicability for cardiac drug discovery and development.
Researchers at the University of Cincinnati found that a strain of E. coli Nissle protects human cells against pathogenic E. coli bacteria. The study suggests that Nissle may be used to develop a treatment for E. coli infections, which affect millions annually.
Researchers found a new formula that better matches canine-human life stages, with an 8-week-old dog equivalent to a 9-month-old baby. The study also identified developmental genes that drive aging and created an age-measuring clock for different species.
Materials scientists at Northwestern University have discovered a small number of impurity atoms that contribute to the strength but also make human enamel more soluble. The study, using atomic-scale resolution, sheds light on the spatial distribution of these impurities in the enamel's core-shell structure.
Researchers isolated 179 swine influenza viruses from pigs in China, grouped into six genotypes, and found one (G4 EA H1N1) exhibiting features characteristic of the 2009 pandemic lineage. The virus showed high infectivity and transmissibility in ferrets, raising concerns about its potential for pandemic spread in humans.
Genetic study reveals modern sled dog breeds share a distinct lineage that emerged at least 9,500 years ago. The analysis of ancient and modern Arctic dog genomes suggests gene flow from Siberian Pleistocene wolves, highlighting the importance of sled technology in human subsistence.
A new USC-led study demonstrates that the peptide humanin, found in mitochondria, is closely correlated with longer lives and better health in both animals and humans. Higher levels of humanin have been observed in organisms with lower risk for age-related diseases such as Alzheimer's.
A study by University of Utah Health found that genetic mutations accumulate at an accelerating rate during puberty, affecting lifespan and fertility. Young adults with slower rates of mutation accumulation lived about five years longer than those with faster rates.
A new study charts a potential path for preserving and restoring historic works by identifying microbial communities on art. Researchers found that microbes on wood and canvas surfaces can produce chemicals influencing decay rates.
A recent study by Max Planck Institute researchers used stem cells and organoids to analyze the role of Neandertal DNA in human development. The team found that archaic DNA is present in nearly all modern humans outside Africa, with certain genes associated with skin and hair color being highly prevalent in Europeans.
Researchers used stem cells to study the developmental effects of Neandertal DNA, finding that archaic DNA contributes to skin and hair color traits prevalent in Europeans. The study provides a proof-of-principle for using organoids to track Neandertal-derived RNA across developmental processes.
Researchers find that the human-specific gene ARHGAP11B causes an enlarged neocortex in common marmosets, a non-human primate. The study suggests that this gene may have played a key role in the expansion of the human neocortex during evolution.
A new study led by Liliana Dávalos explores how coronaviruses interact with goblet cells in bats, which may hold the key to understanding why some bats are resistant to these viruses. The research aims to compare the differences between bat and human nasal tissues, with potential implications for preventing future pandemics.
A team of researchers has identified fibroblasts as the primary cells producing VEGF-C processing enzymes in zebrafish embryos. This discovery sheds light on lymphatic vessel development and may have implications for human diseases, including lymphoedema and cancer metastasis.
Researchers are studying how bats adapt to the SARS-CoV-2 virus, hoping to understand the immune system's response and potentially inform human treatment. They will examine bat genome assemblies to identify patterns of gene duplication and gain/loss related to viral infection.
A new study from the University of Georgia has found that exposure to a banned flame retardant can alter the genetic code in sperm, leading to major health defects in children. The research focuses on paternal exposure prior to conception and uses a unique combination of observational and laboratory approaches.
Researchers mapped 88,047 individual cells across 33 brain regions in humans, chimpanzees, macaques, and bonobos to identify distinctive brain regions that underwent faster evolution. The study found differences in gene expression between human oligodendrocytes and astrocytes compared to other primates.
Researchers found that rare lefty garden snails have shells formed by a developmental accident rather than inheritance. Dr Angus Davison's appeal for help finding a mate for Jeremy led to the discovery of over 40 lefty snails, which were then bred together to test the genetics behind this condition.
Researchers used silicone dog tags as passive environmental samplers to collect data on everyday chemical exposures in dogs and their owners. They found significant correlations between exposure levels for owners and pets, as well as similarities in urinary biomarkers.
Researchers found that SARS-CoV-2 originated from a bat coronavirus and gained the ability to infect humans through exchanging a gene fragment with a pangolin coronavirus. The virus's genetic material was altered to bind to host cells, making it possible for it to infect human respiratory and intestinal epithelial cells.
A study on DNA data from 110 skeletal remains in West Asia dated 3,000 to 7,500 years ago found evidence of long-term genetic mixing and subtle population movements. The researchers suggest that this gradual change in genetic profile spread across the region over a thousand years, influencing the rise of urbanism.
Researchers developed a technique to generate human antibodies faster than existing methods using chicken immune system cells. The ADLib system can produce diverse antibodies with improved binding affinity, potentially leading to breakthroughs in cancer treatment and other medical applications.
A new study compares the distribution of mutations in human tumours to those in chimpanzees and gorillas. The research reveals that human tumours accumulate mutations in regions similar to those found in non-human primates, challenging previous theories on the genetic causes of cancer.
Two malaria vaccines developed using genetically engineered malaria parasites have shown safety and preliminary protection in phase 1/2a clinical trials. The vaccines, created by Isaie Reuling and Meta Roestenberg teams, delayed infections when exposed to mosquitoes infected with Plasmodium falciparum, the primary cause of malaria in h...
A new study uncovers genetic relationships of ancient humans in northern and southern China, showing a closer connection between present-day East Asians and Neolithic populations. The research highlights the impact of population movement on human history, revealing continuity back 9,500 years.
The study reveals 10 major hormone types and their interactions, shedding light on how enteroendocrine cells sense food and regulate hunger and satiety. The discovery offers new avenues for treating diseases like type 2 diabetes and obesity.
A study examines phalangeal curvature in a human-raised chimpanzee, revealing similar curvature to wild chimps but not humans. Genetic factors, not mechanical loading, are the main drivers of this curvature in chimpanzees and likely other arboreal primates.
Researchers analyzed DNA of 89 ancient humans in the central Andes, finding early genetic differences between regions and surprising continuity. Genetic analysis revealed a north-south substructure of the Highlands developing by 5,800 BP, with minimal changes to the genetic structure of the central Andean region between 2,000 and 500 BP.
A recent study published in PLOS Biology suggests that the re-emergence of bluetongue virus in France was caused by human activities, based on the virus' unusual genetic makeup. The research found a lack of mutations between outbreaks, indicating the virus may have been stored and then transmitted through artificial insemination.
Researchers have identified a new potential agent for treating preeclampsia using small interfering RNA molecules that target the renin-angiotensin-aldosterone system. In animal models, the treatment reduced symptoms of preeclampsia and improved fetal nutrition, suggesting a safe therapeutic option.
Researchers have devised a faster and less memory-intensive method for constructing pan-genome subgraphs, allowing scientists to create visualizations on different scales rapidly. The new method enables the analysis of specific genome parts in a more efficient manner.
Researchers discovered multiple RNA elements in the upper stem of pri-miRNAs crucial for regulating miRNA expression. These elements affect miRNA processing, leading to dysregulation and abnormal cell activities. The study's findings may help interpret miRNA-related human diseases and develop clinical diagnostics.
Researchers at Cincinnati Children's Hospital Medical Center create a new platform to study the single-cell genomics of various diseases, potentially making genetic-based diagnoses more precise and effective. The study focuses on linking gene mutations to disease-causing processes in blood diseases like severe congenital neutropenia.
A team at Colorado State University used a novel approach to test assumptions in NASA's model predicting health risks from space radiation. They found that the risk exceeds what is considered acceptable, highlighting the need for further research and validation.
A research team at the University of Bonn has discovered that the TLR8 immune sensor plays a crucial role in defending human cells against bacteria and other pathogens. The enzymes RNaseT2 and RNase2 break down bacterial RNA into characteristic fragments, allowing TLR8 to recognize and respond to the invasion.
A recent study suggests that the proportion of human-infecting viruses does not substantially vary across different taxonomic orders. The researchers found that species-rich orders tend to harbor more human-infecting viruses, but this number scales proportionately with the total number of viruses.
The discovery reveals that early human inhabitants of the Amazon tamed wild plants to grow manioc, squash and maize, creating 4,700 'forest islands' in northern Bolivia. This study confirms South West Amazonia as a center of plant domestication around 11,000 years ago.
A new study from WashU Medicine found that captive apes' gut microbiomes are more similar to those of people who eat non-Western diets than their wild counterparts. The research also identified novel antibiotic resistance genes in wild apes and humans, highlighting the need for conservation efforts to protect endangered species.
Scientists successfully incorporated noncanonical amino acids into human hematopoietic stem cells, enabling the production of ncAA-containing proteins in living organisms. The modified stem cells provided a tool for studying human proteins in cell culture and living systems.
A recent study supports the idea that modern humans and Neanderthals had multiple encounters, resulting in Neanderthal DNA being woven into the modern human genome. The research found that people in Eurasia today have genetic material linked to Neanderthals from different regions, including Siberia and Croatia.
Scientists have retrieved the oldest human genetic data set from an 800,000-year-old tooth, shedding light on the branching points in the human family tree. The findings support the idea that Homo antecessor was a sister group to modern humans, Neanderthals, and Denisovans.
The National Gene Vector Biorepository (NGVB) provides valuable resources to gene therapy investigators, including 93 unique reagents and a searchable database of animal safety studies. These resources aim to decrease compliance risks, address clinical trial funding periods, and reduce costs.
The researchers have developed a computational model of a human cell that simulates its behavior for up to 15 minutes, revealing the effects of spatial organization on genetic processes. The study provides new insights into how genes are regulated and developed, and how diseases such as cancer are formed.
Using high-throughput screening of adeno-associated viral (AAV) vector capsid libraries, researchers identified functional and efficient AAV variants after only one round of selection. Infection with a high multiplicity of infection (MOI) was found to be preferable to infection with a low MOI, reducing variation between screens.
Research reveals that prehistoric hyenas and humans migrated across continents at approximately the same time, with spotted hyenas showing extensive and complex migration patterns. The study also found signs of a detrimental impact on hyenas due to human activity.
Researchers identified two genetically distinct 'urban' and 'rural' fox populations in Berlin, influenced by physical barriers and human activity levels. Foxes from the city population are bolder but prefer to avoid areas of high human activity, highlighting their risk management strategies.
Researchers developed a rod-shaped DNA motor that rolls at speeds up to 100 nanometers per minute, breaking previous records. The motor uses RNA fuel and can travel the length of a human stem cell in two or three hours.
Researchers developed CRISPR-HOT to label specific genes in human organoids, enabling the study of abnormal cell division and cancer development. By disabling the cancer gene TP53, they found that unstructured divisions of abnormal hepatocytes were more frequent, contributing to cancer development.
Researchers at Hubrecht Institute and Princess Máxima Center found that Escherichia coli bacteria induce unique DNA mutations in human cells, similar to those found in colon cancer patients. The study establishes a direct link between the microbes inhabiting our bodies and genetic alterations that drive cancer development.
Scientists have detected a potential new biomarker for Alzheimer's disease in the Presenilin1 gene, which shows promise for earlier diagnosis and treatment. The study found that changes in DNA methylation of this gene are common in people with Alzheimer's and could be used to monitor environmental triggers and treatment responses.
Researchers created a gene catalog called VIRGO, comprising nearly 1 million genes from the human vagina. This comprehensive resource facilitates deeper understanding of the vaginal microbiome's function and potential treatments for gynecologic conditions.
Researchers discovered ancient Salmonella genomes in human skeletons dating back 6,500 years, shedding light on the evolution of a human pathogen. The study suggests that the Neolithic revolution facilitated the emergence of human-adapted pathogens, including Paratyphi C.
Archaeological findings from India's Dhaba site reveal humans survived the massive Toba eruption with stone tools similar to those in Africa. The discovery contradicts theories of a 'volcanic winter' and supports genetic evidence of human interbreeding with archaic species.
Researchers reconstructed eight ancient Salmonella enterica genomes from human remains, revealing a link between the spread of farming culture and the emergence of human-adapted pathogens. The study highlights how constant exposure to pathogens enabled their evolution over 6,500 years.
A study published in Science found that Hydractinia, a North Atlantic jellyfish, can produce eggs and sperm more flexibly than humans. The research reveals that the jellyfish uses a gene called Tfap2 to commit its adult stem cells to gamete production throughout its lifetime.
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.
Researchers at Gladstone Institutes have discovered new human genes controlling HIV infection, which could lead to the development of new therapies. The study used a large-scale genetic approach to uncover host proteins that facilitate infection and identify key genes involved in the process.