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 found that variations in the follicle stimulating hormone receptor (FSHR) gene may increase a woman's risk for delivering her infant prematurely. The study suggests that human gestation has been pushed to shorter times due to evolutionary changes, which could lead to new targets for therapeutic or preventive measures.
A new study has identified a molecular switch, TBL1, that appears to be a common feature in the development of fatty liver disease. The discovery is consistent with data from human patients and suggests an underlying explanation for the condition.
Researchers successfully reprogrammed diseased human hepatocytes into induced pluripotent stem cells, offering a potentially unlimited source for liver disease treatment. This breakthrough could enable the generation of genetically corrected liver cells via auto-transplantation, avoiding liver transplants and immunosuppression.
Michael Elowitz was awarded the 2011 HFSP Nakasone Award for his groundbreaking research on genetic noise, a concept that has transformed our understanding of cellular behavior. His work has shown that noise is not just a random variation but an essential element that enables core cellular functions.
Researchers identified 510 genetic regions highly conserved among chimpanzees and other mammals but missing in humans. These deletions are linked to specific anatomical changes unique to the human lineage, including reduced tactile sensitivity and increased brain size.
A WSU study aims to uncover the role of RNAi in X chromosome recognition, which could improve our understanding of gene regulation in humans and lead to new medical interventions for diseases like cancer and developmental abnormalities.
Researchers at Boston University School of Medicine have identified a novel mechanism for controlling gene expression, which is evolutionarily conserved in humans. This process, called transcriptional attenuation, involves the blocking of premature termination complexes to allow genes to be expressed under certain stress conditions.
Researchers found that humans can't produce a specific sialic acid molecule, leading to insulin and glucose metabolism problems. This discovery suggests evolutionary changes may have influenced human metabolism and increased diabetes risk.
A new genetic discovery suggests that the loss of function in a human-specific gene called CMAH may contribute to the development of Type 2 diabetes. The study found that mice with this gene mutation developed insulin resistance and pancreatic beta cell failure, leading to decreased insulin production and impaired blood glucose control.
Researchers used fruit flies to study fetal alcohol syndrome, finding that prenatal alcohol exposure can cause developmental problems such as intellectual disabilities and abnormal facial features. The study establishes a new model system for studying FAS, which may lead to the development of new therapies.
The freshwater crustacean Daphnia pulex has been found to have the most genes in an animal, with approximately 31,000 genes. This discovery was made possible by the sequencing of its genome and provides unprecedented insights into how an organism's genome interacts with its environment.
A new genetic study has found that the DNA of current Polynesians can be traced back to migrants from the Asian mainland who settled in islands close to New Guinea around 6,000 years ago. The research challenges previous theories on human migration, suggesting a 'voyaging corridor' between Southeast Asia and the Pacific
The Boston College bioinformatics lab has created a detailed map of genomic structural variants, a layer of DNA that distinguishes individuals. This analysis of 185 human genomes supports the 1000 Genomes Project and provides new insights into genetic selection, variations, and disease susceptibility.
In a study published in Cell Metabolism, researchers discovered a genetic switch called dERR that supports cell division and proliferation in growing fruit flies. This switch is controlled by a nuclear receptor and transcription factor similar to human ERRs, which are associated with breast cancer.
A new study has identified seven genes that cause heterotaxy, a condition leading to severe congenital heart disease. The research found that children with this condition have a higher burden of copy number variations (CNVs) on their genomes, which also affect frog models.
The study reveals that orangutan DNA is more diverse than humans, with a unique genetic stability that has remained unchanged for 15 million years. The researchers found deep diversity in both Bornean and Sumatran orangutans, which can aid conservation efforts and inform studies of human evolution.
Researchers found specific DNA regions, including those related to the Notch pathway, responsible for hypoxia resistance in flies. Gain-of-function mutations resulted in over-expression of the Notch domain and increased hypoxia tolerance.
A team of researchers has made a discovery about how the Ras oncogene chooses a signaling pathway and its consequences in cellular development, a key issue in cancer. The study used a common roundworm, C. elegans, to identify the critical events leading to pancreatic cancer.
A University of Florida study using lice DNA sequencing found that modern humans started wearing clothes around 70,000 years before migrating into colder climates. The research suggests that clothing played a crucial role in human evolution and survival.
Researchers have discovered how a malfunctioning gene associated with Lou Gehrig's disease leads to nerve-cell death in mice. The study found that the gene, TDP-43, causes neurons to die when it is bound up outside the nucleus and depletes the cell of normally functioning TDP-43.
Researchers have discovered that DNA can accurately predict a person's hair color, including red, black, blond, and brown, with accuracy rates of over 90%, 80% and 70-80%. The new DNA approach allows for differentiation between similar hair colors.
A 30,000-year-old finger bone found in Siberia yielded a complete Denisovan genome sequence, showing the extinct group was a sister group to Neanderthals and had interbred with ancestors of modern Melanesians. The discovery provides new insights into human evolution and migration out of Africa.
A team of researchers has determined that overexpression of the Sox3 gene in mice causes frequent XX male sex reversal. Genomic rearrangements in the human SOX3 gene have been found in three patients with XX male sex reversal, suggesting a significant cause for this condition.
Researchers have identified a novel type of papillomavirus, EcPV-2, linked to equine genital cancer. The virus is closely related to human genital cancers and its presence in affected horses suggests a potential cause and cure.
Genetic comparison reveals Egyptian vulture population in Canary Islands was established around 2500 years ago, matching human colonization date. Human activity led to divergent evolution and demographic expansion of vultures, assisted in their adaptation to new environment.
Researchers at the University of Rochester Medical Center have created a way to isolate pure preparations of neural stem cells directly from human brain tissue. This breakthrough technique saves months of time and labor in the laboratory, allowing scientists to study stem cells in unprecedented detail. The findings suggest that human n...
Researchers found that common genetic variants near aging-related genes influence the production of circular RNAs, which control INK4/ARF gene expression and risk of diseases like heart attack and stroke. Individuals with more of these circular forms have increased INK4/ARF gene expression.
Researchers have re-sequenced six elite corn varieties, discovering over 100 genes that are present in some but not others. This presence/absence variation could be crucial to understanding heterosis and producing better hybrids.
A team of researchers argues that FDA's current review process for transgenic salmon fails to consider the full impact on human health and environment. Experts call for a broader assessment of safety, including market impacts and environmental effects.
Researchers discovered that when a person's personality matches the prevalent personalities of others in a culture, it enhances positive effects on self-esteem and well-being. Additionally, social threats induce bodily freeze-like behavior in humans, while cultural differences in spatial representations affect time perception.
Researchers identified significant qualitative differences in human and chimpanzee natural killer cell receptors, shaped by human-specific evolution. These distinctions affect the ability to fight infections like HIV/AIDS and malaria, as well as reproductive processes.
The Federation of American Societies for Experimental Biology (FASEB) has awarded 7 MARC travel grants totaling $12,950 to support underrepresented minority students and postdoctorates at the 2010 ASHG Annual Meeting. The awards promote diversity in biomedical research and encourage young scientists' participation.
A large-scale genome sequencing project involving 179 people from three continents has confirmed earlier work on genetic mutations and identified new gene mutations that occur often enough to be considered common in humans. The study also discovered new mobile elements, DNA sequences that randomly reshuffle in the genome.
Scientists discover how EBV uses microRNA to create an elaborate timing mechanism, allowing it to hide within cells and evade the immune system. Removing this mechanism could enable physicians to flush EBV out of hiding and allow a healthy immune system to rid the body of the virus.
Researchers have identified key genes controlling reproductive lifespan in roundworms, which may lead to the development of fertility-preserving treatments for women. The study's findings suggest that quality over quantity is a limiting factor in human reproduction, and that similar genes are shared between humans and worms.
Researchers found that worms and humans have similar genetic mechanisms controlling reproductive aging, which can inform fertility preservation therapies. Oocytes in both species degrade functionally and morphologically with age, but TGF-?? Sma/Mab and insulin/IGF-1 signaling pathways delay aging by maintaining oocyte quality.
A patchwork of reproductive health regulations across Europe hinders access to medically assisted reproduction (MAR) treatments. Many patients resort to seeking care abroad due to limited availability and reimbursement policies.
Researchers generated mice with a human immune system using human stem cells, allowing them to produce human monoclonal antibodies. This breakthrough could simplify the study and treatment of diseases.
Researchers discovered a genetic alteration in the NR5A1 gene that disrupts sperm production, accounting for approximately 4% of cases of unexplained male infertility. The study suggests that these mutations may indicate mild abnormalities in testicular development, highlighting the need for further clinical investigation.
Scientists have developed a laboratory model to study innovative approaches against typhoid fever in a living system. The 'humanized' mouse model enables researchers to test new treatments before testing them on people.
A study by Timothy Vyse and colleagues found that common CRP genetic variants are associated with acute-phase serum CRP concentrations in patients with rheumatoid arthritis. This association may influence therapeutic decision making and lead to improved clinical interpretation of inflammatory disease activity.
A genetic marker linked to elevated tau levels in cerebrospinal fluid predicts rapid progression of Alzheimer's disease. The marker is associated with higher tau levels and more severe dementia in patients, offering new insights into the disease's progression.
University of Oklahoma researchers have developed a new method for understanding brain function in humans, leveraging advances in genetic techniques to manipulate small subsets of brain cells. This breakthrough has significant implications for studies of human neurological diseases, including Alzheimer's and Parkinson's disease.
The Centre for Geogenetics is a globally unique facility that bridges the natural sciences and humanities, offering new insights into human migration, climate change, and disease treatment. With its advanced techniques, it aims to calculate the future more accurately by understanding the past.
A new study published in the New England Journal of Medicine contradicts earlier reports that people with a certain genetic make-up don't benefit from the blood-thinner clopidogrel. Researchers found that the gene variant previously thought to be associated with reduced effectiveness had no impact on patients taking clopidogrel.
Researchers have discovered a genetic risk factor associated with common types of migraine, revealing a potential explanation for the link. A DNA variant on Chromosome 8 regulates glutamate levels in nerve cells, which may play a key role in migraine attacks.
A new statistical method confirms that mitochondrial Eve, the mother of all humans, lived around 200,000 years ago. The study compared 10 human genetic models and found that they produced similar estimates, suggesting that refining assumptions beyond a certain point is not crucial in capturing the big picture.
Researchers identified a mutation in the unc-79 gene that makes mice more sensitive to alcohol, suggesting a potential link between the gene and human susceptibility. The study found that the mutated mice consumed more alcohol than normal mice when offered a choice.
Researchers have identified a novel mutation in a mouse gene that may contribute to the genetic roots of alcoholism. The mutation, called Lightweight, affects sensitivity to alcohol and voluntarily consumed more alcohol by mutant mice. Further studies are needed to determine if this pathway is relevant to humans.
The National Institutes of Health has launched a nationwide research initiative to define changes in the human immune system using human studies. The effort aims to improve vaccine safety, effectiveness, and overall therapeutic outcomes for various infections and diseases.
Researchers have detected and quantified novel small RNAs in human cells that represent entirely new classes of gene-translating molecules. The findings confirm a long-held hypothesis that mammalian cells can synthesize RNA by copying RNA molecules directly.
Researchers have identified a small number of genetic regions responsible for dogs' physical traits, which may hold clues to understanding human biomedical traits. The study found that only six or seven locations in the dog genome determine about 80 percent of differences in height and weight among breeds.
Scientists have created a mouse with highly effective human immune system components, enabling it to specifically target and destroy cancer cells. This breakthrough could lead to new immunotherapy approaches for cancer treatment.
Researchers found that the human neck played a crucial role in the evolution of the human brain by enabling improved movement and dexterity in terrestrial and aerial environments. This innovation allowed for a wide range of forelimb abilities, from flying to swimming and playing piano.
Scientists have developed a new, automated genetic method for determining a broader range of blood types, enabling better matching in blood banks. The HiFi Blood 96 test can handle high volumes of blood and is more affordable than existing commercial tests, paving the way for wider adoption of extended blood group typing.
Researchers at UC San Diego identify new signaling pathway critical for embryonic stem cells' self-propagation, finding that inhibiting this pathway reduces teratoma formation. This breakthrough enables a potential solution to the major obstacle in developing human embryonic stem cell therapies.
A comparison of Tibetan and Han Chinese genomes reveals over 30 genes with DNA mutations associated with high-altitude adaptation. The fastest genetic change ever observed has allowed Tibetans to thrive at high altitudes without the problems faced by people from lower elevations.
Gerald R. Fink receives the prestigious award for his groundbreaking work on yeast genetics, enabling gene manipulation and advancing biomedical science. His discoveries have led to life-saving drugs and vaccines, as well as a deeper understanding of disease-causing fungi.
Gerald Fink has been recognized with the 2010 Gruber Genetics Prize for his revolutionary transformation technique, enabling gene insertion into yeast cells. This breakthrough allows scientists to study specific genes and produce compounds used in vaccines, antibiotics, and biofuel.
Female human embryonic stem cells show variations in X chromosome inactivation as early as five passages, suggesting culture conditions can impact cell safety. The study's findings may have implications for cancer development and disease treatment, prompting further research on uniforming X chromosome inactivation patterns.