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 Stanford study uses high-powered genomic analytical techniques to establish the coexistence of 1,000 single-celled species in every healthy human gut. By manipulating microbial populations through dietary interventions, scientists aim to remedify diseases and enhance health.
The UK10K project will analyze the genomes of 4,000 people with extensive health data and 6,000 people with extreme obesity and other conditions. The goal is to identify rare genetic variants important in human disease and improve our understanding of genetics.
Researchers identified a defective signaling pathway that leads to the development of vascular malformations in the brain. The study suggests that targeting this pathway may lead to new treatments for cerebral cavernomas, including the use of anticancer drugs.
A study by Instituto Gulbenkian de Ciência has identified the first genetic risk factors for cerebral malaria in Angolan children, a severe form of malaria infection. The research found that variants in two genes, TGFB2 and HMOX, increase susceptibility to cerebral malaria.
Researchers found that viruses invading the human genome millions of years ago have changed gene regulation in human embryonic stem cells. The discovery provides definitive proof of a theory proposed by Barbara McClintock and has significant implications for regenerative medicine.
Researchers at Karolinska Institutet have successfully cultured human embryonic stem cells under chemically controlled conditions without the use of animal substances. This breakthrough enables large quantities of human embryonic stem cells to be produced in a completely defined environment, paving the way for future clinical uses.
Researchers at UT Southwestern Medical Center have developed a novel technique to produce genetically modified rats, offering potential for biomedical research on human diseases. The new method enables the creation of rat lines with mutations in specific genes, including those linked to cancer, diabetes, and mental illness.
Researchers have identified a genetic link between the CISH gene and increased susceptibility to tuberculosis, malaria, and serious bacterial infections. The study found that a single genetic variant in the CISH gene increases disease risk by 18% compared to those without the variant.
T-ALL is caused by interplay of various factors including genetic errors that disrupt white blood cell formation. The study identifies PTPN2 as a tumor suppressor gene lost in leukemia patients, contributing to cancerous cell proliferation.
Researchers discovered an identical gene for antibiotic resistance in human and animal samples, suggesting its transfer between bacteria species. This finding poses a risk to the treatment of common human infections like UTIs, which are increasingly difficult to treat due to rising antibiotic resistance.
A study published in the International Journal of Obesity found that male and female fat cells have distinct genetic profiles, which may contribute to differences in fat storage patterns. The researchers used mice with different sex hormone levels to determine whether hormones play a role in fat distribution.
Researchers found that low oxygen levels prevent X chromosome inactivation in human embryonic stem cells, which can lead to a less flexible and pluripotent state. The study suggests that conventional lab methods may not be optimal, and alternative approaches are needed to maintain human ES cells' pluripotency.
Researchers at Purdue University discovered that lake sturgeon have genes from a parasitic worm and a protozoan parasite that causes a sexually transmitted disease in humans. This finding could lead to new methods of sex determination without harming the fish, which are endangered due to overfishing and pollution.
Scientists have identified a rare species of pathogenic algae causing human skin infections and septicemia. The discovery may lead to better treatment protocols and economic benefits for the dairy industry.
The Xenopus tropicalis genome has been nearly completely sequenced, providing a powerful model to study gene organization, regulation and function. The findings hold significant promise for improving human health by shedding light on the basic mechanisms of genetics.
Researchers found that the Retinoblastoma protein targets DNA replication genes during cellular senescence, preventing cancer cells from replicating. This mechanism is crucial for tumor suppression, and its disruption can lead to genomic instability and malignant tumors.
Researchers have created a global map of human gene expression using data from 163 laboratories worldwide involving 5,372 human samples. The analysis reveals six distinct groups or 'continents' of gene expression activity, providing new insights into the genetic basis of human function and behavior.
High levels of copper and iron in older adults can lead to cell damage and increase the risk of age-related diseases. To mitigate this, individuals over 50 should consider avoiding certain supplements and taking steps to lower their exposure to these metals.
A study has identified genes that contribute to heart function and disease, shedding light on the genetic underpinnings of heart disease. The researchers found nearly 500 genes associated with heart problems in flies, including a protein complex called CCR4-Not.
Researchers at EMBL identified almost 600 human genes involved in mitosis through high-throughput imaging and computer analysis. The study provides a rich resource for scientists to investigate the molecular workings of cell division.
Researchers have discovered an influenza detector gene called RIG-I in ducks that could prevent the transmission of the virus to humans. The duck's immune system contains the virus, reducing viral replication by half.
McGill University researcher Prof. Claudio Cuello has genetically manipulated rats to emulate Alzheimer's disease in humans, allowing for the study of a suspected 'latent phase' previously impossible to predict. This breakthrough enables researchers to develop new treatments for the devastating brain condition.
Researchers at EMBL and Yale found that up to a quarter of human genes are regulated differently in people, with variations in non-coding regions and protein interactions contributing to these differences. This new understanding may lead to novel approaches for studying diseases and personalizing treatments.
A new University of Colorado at Boulder study reveals that individual hand bacteria can be used to identify people on computer objects, with a high accuracy rate of 70-90%.
Researchers at Uppsala University have made a breakthrough in understanding the genetic transformation of wild species into domestic chickens. The study reveals two significant selective sweeps, one affecting the TSHR gene and another involving the TBC1D1 gene, which are linked to changes in reproduction timing and glucose uptake in mu...
Researchers from UC San Diego and Harvard found that cooperative behavior is contagious and spreads through a social network. When people benefit from kindness, they are more likely to help others, creating a cascade of cooperation.
Researchers analyzed DNA from 40 diverse Echinacea populations to understand the plant's genetic diversity. The study found that the species likely originated in southern refuges on both sides of the Mississippi River and hybridized as they moved northward, leading to blurred genetic distinctions.
Researchers at EMBL discover a reference gene set for the human gut microbiome, cataloging 3.3 million microbial genes and shedding light on their role in maintaining health. This breakthrough enables non-invasive stool samples to be used as a measure of health, potentially leading to new treatments.
A new study found that fruit flies without the key gene controlling circadian rhythms were more resilient to stress at a young age, but their health declined faster as they aged. The research suggests that biological clocks may play a role in aging and health, with intact genes potentially improving health and longevity.
Researchers at UCLA successfully removed CCR5 receptor, which HIV binds to, from human immune cells using a gene-based approach. This strategy shows promise for treating HIV-infected individuals by reducing the virus's ability to infect cells.
Researchers from the University of Innsbruck have identified a primitive cancer gene in a fresh water polyp, revealing similar biochemical functions to those found in humans. This discovery sheds light on the evolution of cancer and its relationship to stem cells.
A study of nearly 800 patients with non-small cell lung cancer identified genetic characteristics associated with increased recurrence-free survival, differing between men and women based on age.
University of Florida researchers are developing a gene therapy to treat Pompe disease, which causes severe muscle weakness and breathing difficulties. The treatment involves delivering a corrective gene directly to the diaphragm using an adeno-associated virus, with clinical trials expected to begin soon.
A study published in PNAS suggests that humans' unique genetic adaptation to meat-rich diets has increased lifespan but also made us more susceptible to diseases of aging such as cancer, heart disease, and dementia. ApoE4 carriers have higher rates of early onset coronary heart disease and Alzheimer's disease.
Researchers found scant evidence of antibiotic resistance genes in isolated polar bears, contradicting previous findings in other animals. The study suggests that the spread of antibiotic resistance may be caused by human contact, rather than natural occurrence.
The human and chimpanzee Y chromosomes differ significantly in structure and gene content, with the chimp Y having lost up to half of its human counterpart's genes. This rapid evolution is thought to be driven by intense sperm competition between males, leading to the favoring of advantageous sperm production genes over detrimental ones.
Scientists discovered that Gata5 gene cooperates with Gata4 to direct the heart's normal structure formation during early development. This finding contributes to understanding how heart defects may occur in humans.
Research suggests that certain adaptations that once benefited humans may now be helping such ailments persist in spite of advancements in modern culture and medicine. Evolutionary perspectives integrated into medical curricula could help future physicians understand health problems from an evolutionary perspective.
A team of researchers has successfully studied the elusive CstF-64 protein, a crucial component of gene expression. The breakthrough allows scientists to understand its interactions with other proteins and improve polyadenylation machinery in living cells.
Researchers at Helmholtz Munich identified genetic variants associated with disturbances in lipid metabolism, which may contribute to the development of diabetes. The study provides a new approach for early diagnosis and therapy of metabolic diseases.
A genetic study has identified the origins of cavity-causing bacteria Bifidobacterium dentium Bd1, revealing its genetic adaptations for oral survival. The study found that the genome sequence of this bacterium has evolved through only a few horizontal gene acquisition events, highlighting the narrow boundary between beneficial and pat...
Scientists are studying the physical processes of ice formation in insects to understand why some survive freezing while others don't. The research found that insects that freeze at consistently higher temperatures have adaptations that allow them to control ice formation, implying cellular or biochemical level adaptations.
Penn researchers have isolated and transplanted pure populations of human spermatogonia and mouse gonocytes, showing remarkable similarity between the two species' reproductive cells. The study reveals insights into male germline stem cell lifecycle and provides hope for prepubescent men at risk of infertility due to cancer treatment.
Researchers propose that gene variants contribute to heterogeneity in populations, giving generations more opportunity to survive in a fluctuating environment. This idea may help explain the presence of common diseases and how organisms adapt quickly enough to environmental change.
A new study from North Carolina State University suggests that health care spending can contribute to economic growth by investing in future capital and improving productivity. The researchers found that government projections of health care costs were unduly pessimistic, leading to errors of up to 35%.
A study by Duke University researchers discovered a commonality in the genetic codes of human sex receptors and those found in other primates. This similarity suggests that varying sensitivity to specific odors may play a role in mate selection, potentially preventing cross-species couplings.
Research shows human umbilical stem cells can improve corneal transparency and thickness in laboratory mice. The treatment has the potential to replace corneal transplants as an alternative therapy for severe genetic and corneal eye diseases.
Researchers found that broad differences in gene activity between humans and chimps are coordinated by about 90 transcription factors, which affect nearly 1,000 genes. This suggests a unique regulatory mechanism in the human brain that allows for larger brains and different organ functions.
A multi-institutional team is using genomic tools and the Mexican axolotl salamander to understand regenerative capacity after spinal cord injury, stroke, and other neural conditions. The goal is to tap unused human capacities to treat these conditions.
Researchers found that mice lack two key features of a critical DMD gene, hindering the use of mice as primary models for studying DMD. The findings indicate that mouse models are particularly poor at replicating brain effects of DMD, which could limit understanding of the disease's mechanisms.
Humans uniquely susceptible to aging diseases due to genetic adaptations to inflammation and high cholesterol diets. The 'meat-adaptive gene' ApoE3 may contribute to human lifespan, while ApoE4 impairs neuronal development and shortens lifespan by four years.
Recent studies in fruit flies have identified a nuclear receptor that plays a critical role in regulating cholesterol levels, similar to humans. The findings suggest that fruit flies can teach humans about their own regulatory mechanisms for maintaining proper balances of cholesterol and stored fat.
A new study found that female mandrills reproduce with males whose genes complement theirs, increasing the chances of their offspring resisting disease. The researchers believe this may be due to smell or selective fertilization, and the discovery supports the idea humans may also choose genetically compatible mates.
Researchers identify phosducin's role in modulating blood pressure in response to stress, finding increased baseline and stress-dependent blood pressure in mice and humans. The study suggests phosducin as a promising target for developing drugs to alleviate stress-induced hypertension.
Researchers have confirmed Homo floresiensis as a distinct species using statistical analysis on skeletal remains, rejecting the theory that it was a diseased sub-population of healthy humans. The study reveals unique anatomy that differs from modern humans and other primate species.
Researchers have discovered genetic clues that enable scientists to tailor corn plants for specific traits, such as high protein content for human consumption or high glucose content for biomass fuel. The findings could lead to higher yield or improved quality crops with reduced environmental impact.
Bird flu viruses require two simultaneous genetic mutations to infect humans, making human-to-human transmission unlikely. The study suggests that H5N1's high mortality rate in humans is due to its inability to infect the right cells, increasing the odds of it being less likely to cause a pandemic.
Two large-scale genetic studies identified key regions linked to susceptibility in both adult and childhood inflammatory bowel disease, highlighting the role of epithelial defects in creating an 'open door' for bacteria. The findings also suggest potential new targets for treatment by tightening up the mucosal barrier.
The institution has been awarded over $42 million for research projects focusing on cancer, heart disease, kidney disease, autism, neurodegenerative diseases, and diabetes. The grants support the work of researchers like Dr. Joseph Hill, Dr. Craig Powell, and Dr. Elizabeth Maher.
Researchers at Queen's University have found a significant connection between two genes involved in human cancer formation by studying their behavior in worms. Increasing Eph receptor levels in worms led to decreased PTEN levels and premature death, highlighting the potential for targeted cancer therapy.