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 identified conserved lincRNAs that affect brain development in zebrafish and found that their human versions have similar functions. The discovery provides a framework for studying lincRNAs, which are abundant but poorly understood molecules.
Researchers engineered Anopheles mosquitoes to produce higher levels of Rel2, an immune system protein that attacks malaria parasites. The study suggests that this approach could lead to the development of malaria-resistant mosquito populations.
The SAV001 vaccine, developed by Dr. Chil-Yong Kang's team, has shown strong immune responses in preliminary tests with no adverse effects. It is the only HIV vaccine under development in Canada and one of few globally.
A new study found that human brain development differs from chimpanzees and macaques, with hundreds of genes showing unique developmental patterns in the prefrontal cortex. MicroRNA activity patterns also showed significant differences, potentially linked to human-specific changes in cognitive abilities.
Researchers at Stowers Institute for Medical Research confirm the molecular mechanics of a key regulatory complex implicated in human leukemia are conserved from yeast to humans. They also identify the common molecular shape at the center of the complex, which regulates gene expression through histone methylation.
Researchers discovered a correlation between low-frequency genetic deletions and decreasing height, suggesting that an excess of rare gene deletions may contribute to short stature. The study found that uncommon genetic deletions are associated with short stature in human subjects.
A University of Iowa researcher is using a canine model to study the genetic basis of glaucoma. The goal is to identify potential genetic markers that could be used to diagnose and treat humans with the disease.
A new gene, LRP1, has been identified as the cause of fatal abdominal aortic aneurysms (AAAs). Researchers found that this gene is specific to AAA and not linked to other cardiovascular diseases. The discovery paves the way for new methods to treat AAAs.
Researchers found that boosting a gene in fruit flies' intestinal stem cells extended their lifespan by up to 50% and delayed the aging of their intestine. The study suggests that the gene, PGC-1, can act as a biological dial for slowing the aging process and may serve as a target for new therapies.
Researchers found a vast network of recent gene exchange connecting bacteria from around the world, exchanging 10,000 unique genes via horizontal gene transfer. This exchange is linked to human disease and antibiotic resistance, with 60% of transfers including antibiotic-resistance genes.
Researchers aim to generate antibodies against human proteins without animal testing, using bacterial and yeast libraries to identify active genes. This could lead to a better understanding of human disease and potential therapeutic targets.
A team at Northwestern University has developed a new method to identify thousands of protein molecules quickly, which could lead to the discovery of biomarkers and early disease detection. The approach, known as top-down proteomics, measures proteins intact instead of breaking them down into smaller parts.
Researchers chart gene expression in human brain from fetal development to aging, revealing coordinated changes that shape brain structure and function. The study found reversible gene expression changes after birth and during Alzheimer's disease, with distinct patterns of change at different life stages.
Researchers at 23andMe have identified the potential protective nature of the SGK1 gene against Parkinson's disease, particularly for individuals carrying high-risk LRRK2 mutations. This discovery has the potential to inform therapeutic approaches and diagnostics for Parkinson's disease.
Researchers at Georgia Tech discover that genomic gaps in human and chimp genes are caused by viral-like sequences, leading to differences in gene expression and morphology. The study suggests that 'junk DNA' may hold the key to understanding why humans differ from chimps.
A study found that patients with certain genetic variants related to clopidogrel metabolism and platelet function are at higher risk of developing blood clots within coronary stents. The researchers identified three key genetic factors and two modifiable clinical factors that increase the risk of early stent thrombosis
Researchers at Virginia Tech have identified four US strains of the hepatitis E virus in farmed rabbits, closely related to genotype 3, which can spread from animals to humans. The discovery raises concerns about the potential for zoonotic transmission and food safety risks.
Researchers found that morning UV exposure increases skin cancer risk by 500% compared to afternoon exposure. The study's findings imply that restricting sunbathing or tanning booth visits to morning hours could help prevent skin cancer in humans.
Researchers have made significant progress in xenotransplantation using genetically modified pigs, showing promising results in pig islet and neuronal cell transplants. Clinical trials are underway or planned for these techniques, which could expand to include other organs such as the liver and heart.
A new study by researchers at the University of Zurich has found that humans and great apes share a common evolutionary origin for their cultural behaviors. The research, which analyzed data from over 100,000 hours of orangutan behavior, suggests that genetic factors and environmental influences play a significant role in shaping behav...
A team of researchers has discovered a pervasive human RNA modification that contributes to obesity and type II diabetes. The study shows that this modification process, called methylation, impacts protein expression and function through its action on a common RNA base: adenosine.
Researchers identified a strategy of prevention that has evolved to compensate for the inefficiency of NMD by decreasing the frequency of nonsense errors. Human genes preferentially encode codons less likely to be mistranscribed into premature STOP codons, improving robustness to transcriptional errors.
A recent study has identified millions of new regulatory elements in the human genome, which govern protein formation and are crucial for various central functions. These findings have significant implications for understanding how mutations in genes lead to diseases.
Early humans' immune system responded strongly to Neu5Gc, a sugar molecule found on most animal cells. This response likely reduced reproductive success in males with high levels of Neu5Gc, driving the evolution of human ancestors.
A study reveals a vast world of unseen viral diversity in raw sewage, home to thousands of novel and undiscovered viruses. The research detected genetic signatures from 234 known viruses, but the majority belong to unknown viruses that may play roles in human health and environmental processes.
Perennial crops retain significant genetic variation, closer to their wild counterparts than annuals. Long-lived species have fewer sexual cycles due to clonal propagation, resulting in lower genetic change.
A study published in Nature Genetics reveals that genetic parasites invaded the mammalian genome over 100 million years ago and transformed reproductive biology. This led to the development of the placenta, which nurtures young within the womb.
Research suggests that periods of rapid temperature fluctuation coincided with the appearance of distant human relatives and the spread of stone tools. Genetic modelling techniques revealed a correlation between climatic variability and key events in human evolution.
A new study establishes a link between alcohol metabolism and DNA damage that may be related to breast and liver cancers. Acetaldehyde, a metabolite of alcohol, was found to cause DNA damage and trigger a response in human cells.
Researchers at the University of Strathclyde have developed a DNA test that can identify deer poachers by detecting low levels of human DNA on deer carcasses. The test has been shown to be effective in recovering DNA profiles from poached deer remains, with a success rate of less than one in a billion.
A team of researchers led by Michael Hammer found evidence of hybridization between modern humans and archaic forms in Africa. Contemporary African populations contain small proportions of genetic material brought in by an archaic population that split from the ancestors of anatomically modern humans about 700,000 years ago.
Researchers at Columbia University Medical Center have discovered that two genes, FUS/TLS and TDP-43, work together to support motor neuron survival in familial ALS. The findings, published in the Journal of Clinical Investigation, suggest that therapies targeting these genes may offer new hope for treating familial ALS.
Researchers at Ben-Gurion University have identified the LEPREL1 gene as causing myopia by affecting collagen modification in the eyes. This discovery may lead to better understanding and prevention of nearsightedness.
Researchers have determined the three-dimensional structure of a complex between an influenza B virus protein and its human protein target, resulting in suppression of the cell's natural defenses. This discovery could lead to the development of antiviral drugs against influenza B virus.
Researchers found that interbreeding with archaic humans introduced beneficial variants of immune system genes, such as HLA-B*73, into modern human populations. These gene variants are now more common in West Asian and East Asian populations, where they provide an advantage to modern human fitness.
Maurice Godfrey received a $10,000 grant from ASHG to develop an electronic version of a successful print-based educational game teaching about genetics, medicine, and ethics. The project aims to improve genetics education for students from grades 7-20.
Researchers found that human embryonic stem cell-derived cells bear striking differences from human tissue cells in gene expression, functionality, and appearance. The cells' developmental maturity is also a concern, particularly for transplantation and disease modeling, as they may not mature to the same levels as adult cells.
A new strain of bacteria infecting humans with ehrlichiosis has been found in Wisconsin and Minnesota, according to a study published in the New England Journal of Medicine. The discovery highlights the importance of testing for tick-borne diseases in these states.
Researchers reveal that MLL-AF9 hijacks Myb to enforce aberrant self-renewal in leukemia cells. Inhibiting Myb results in rapid and complete eradication of cancer, validating a new approach for targeting oncogene addiction in vivo.
Researchers found that humans experience significant brain shrinkage and degeneration with aging, unlike chimpanzees who do not display comparable losses. The study suggests evolution led to large brains in humans, but also increased vulnerability to age-related brain diseases like Alzheimer's.
A recent genetic study found that centuries of human activity, including trade and rituals, have mixed the genetic lineages of the critically endangered Central American river turtle. The turtles' shells made them easy to transport, allowing them to be brought together from isolated river basins.
A study by UC Davis researchers found that a significant proportion of men carry defective genes for the sperm coat protein DEFB126, which may significantly affect their fertility. The protein plays a crucial role in allowing sperm to swim through mucus and avoid the immune system.
A new framework for the evolutionary analysis of the mind proposes that humans cannot be accurately portrayed as being adapted only to a Stone Age environment due to recent selection of genes. Experimental evidence suggests that humans utilize general learning rules rather than a modular account of cognition.
Cancer biologists have pinpointed a gene that drives progression of small cell lung cancer, an aggressive form of lung cancer. Researchers found the gene to be overexpressed in both mouse and human lung tumors.
Researchers identified a pathogenic mutation in the VPS35 gene associated with late-onset Parkinson's disease, implicating a novel protein-recycling pathway in neurodegeneration. The study provides new insights into the disease's pathogenesis and highlights the potential for therapeutic intervention.
Researchers developed a new technique to analyze whole genomes from different populations, revealing continued genetic exchange between African and non-African populations after 60,000 years ago. The study provides fresh insights into human history from 10,000 to one million years ago.
Scientists have created a new approach for producing large quantities of human-derived gelatin, potentially replacing up to 300,000 tons of animal-based gelatin. The novel method involves inserting human gelatin genes into yeast, allowing for controllable features and scalability for commercial use.
Researchers found that genetically identical trees grew differently in response to drought conditions depending on their nursery origin. This study reveals a form of molecular 'memory' where trees retain information about their past experiences, influencing their behavior in the environment.
Researchers found that de novo mutations, genetic errors present in patients but not their parents, are more common in schizophrenic patients. This discovery may help define how the disease results from these mutations and develop new treatments.
Researchers found that pigeons can recognize individual people using facial characteristics, even when wearing different clothing. This ability is likely an adaptation to their long association with humans, enabling them to distinguish between individuals.
Researchers discovered a compound in cinnamon bark that can inhibit the development of Alzheimer's disease. The extract, called CEppt, slows down the progression of the disease and breaks up toxic amyloid fibers in the brain.
Researchers discovered two distinct populations of coconuts, indicating separate cultivation origins in the Pacific and Indian Ocean basins. The study also found evidence of prehistoric trade routes and the colonization of the Americas through coconut genetics.
Researchers have successfully produced synthetic collagen in maize with similar levels of proline hydroxylation to human collagen. This breakthrough enables the production of a protein with human-like modifications, making it suitable for various applications in reconstructive and cosmetic surgery, as well as the food industry.
Researchers found that about three percent of new mutations are 'multi-nucleotide mutations,' which may allow organisms to leap across fitness valleys and reach a higher-fitness state by acquiring multiple mutations simultaneously. The study provides evidence for a possible new mechanism of adaptation.
A human genetic variant associated with a 30% reduced risk of developing severe malaria has been identified. The FAS locus variant can prevent excessive immune responses in infected children, reducing the severity of the disease.
A 'gatekeeper' protein called C/EBP alpha plays a crucial role in preventing DNA damage and skin cancer. Its absence is linked to human skin cancers, including breast and colon cancer, and may also play a role in tumor suppression.
Researchers have identified a stem cell population that can reverse nerve cell loss in individuals with Parkinson disease. Protein-based human induced pluripotent stem (iPS) cells were found to efficiently generate functional dopamine neurons and treat a rat model of the disease. These findings suggest a potential new treatment approac...
Researchers discover CENP-C and CENP-T proteins, which are essential for kinetochore assembly and can potentially overcome the current obstacle of outfitting artificial chromosomes with kinetochores. This finding could lead to new genetic research tools and efficient creation of artificial human chromosomes.
Researchers discovered a worm protein controlling growth factor secretion, which is linked to human cancers. The study proposes that abnormal growth factor secretion may stimulate cancer formation and offers a potential targeted treatment approach.
Scientists at the University of Gothenburg have discovered how certain sea squirts can activate telomerase, an enzyme that protects DNA, leading to exceptional health. These organisms also have a unique ability to discard 'junk' from their cells, which helps maintain their youthful state.