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 recent study reveals that Icelanders are more genetically diverse than previously thought, with higher rates of nucleotide differences and population admixture. This contradicts earlier claims of genetic homogeneity, which were largely based on flawed data and errors in publicly accessible databases.
Eating disorders are a significant cause of physical and psychosocial illness in adolescent girls and young adult women, with limited research on anorexia nervosa and atypical eating disorders. The authors call for targeted research on the interaction of genetic and environmental processes to improve treatment outcomes.
Stanford biologists Paul R. Ehrlich and Marcus W. Feldman critique genetic determinism in their essay, arguing that human behavior is shaped by environmental factors rather than genes. They also challenge the concept of heritability, pointing out its limitations in predicting human behaviors.
Scientists have achieved germline transmission of 'gene knockdown' in mice by using genetic engineering to create mouse embryonic stem cells targeted with RNAi. This enables the manipulation of gene activity in specific tissues and allows for switching on and off at any time during development or adulthood.
Nei's work has developed statistical methods to study genetic diversity, evolutionary relationships, and species divergence. He pioneered the neighbor-joining method for constructing phylogenetic trees, widely used worldwide.
Scientists have successfully cloned the world's first double knock-out miniature swine, eliminating a major hurdle in xenotransplantation research. The genetically modified pigs lack the gene GGTA1, which triggers an immune response against pig organs.
Scientists have discovered that BID protein plays a crucial role in regulating apoptosis of myeloid cells, which are prone to developing CMML. In mice genetically engineered to lack BID, researchers found an overexpansion of myeloid cells leading to leukemia, highlighting potential tumor suppression roles for other BH3-only proteins.
A study by UCSF researchers reveals that the human gene BOULE regulates meiosis in sperm development, a key step in creating sperm and eggs. The finding has significant implications for understanding infertility and developing new treatments, including drugs to assist immature sperm cells or block sperm maturation.
Researchers developed a mouse model to study L1 retrotransposition, a process that can cause mutations in genes. The study found that the mouse model mimics human L1 behavior and could aid in understanding how genes function and potentially lead to genetic therapies.
Scientists at Rutgers and Albert Einstein College of Medicine investigate C. elegans worm model to understand age-related muscle deterioration. They find a key enzyme involved in this process, which could lead to novel therapeutic strategies for sarcopenia in humans.
A team of researchers from Vanderbilt University identified 276 genes in the Anopheles gambiae genome that code for G-protein-coupled receptors essential to the mosquito's senses. The study found 79 genes involved in its sense of smell and 72 in its taste, shedding light on the insect's strong preference for human hosts.
A recent study by Duke University researchers found that the Ras gene activates different signaling pathways in human cells, but not in mouse cells, to cause cancer. The study suggests a new protein target for anti-cancer drugs and highlights the differences between human and mouse cancers.
Scientists identify FOXP2 gene as crucial for human language development, but theologians argue that language and culture are complex matters that may require deeper explanations. The study's findings challenge the notion that language is a uniquely human trait, sparking discussion on Catholic views of evolved body vs created soul.
Researchers found that human cells use RalGEFs as primary effectors of Ras-mediated tumorigenesis, unlike in rodents. This discovery highlights the need for caution in using mice to model human disease and opens new avenues for cancer therapy targeting.
Researchers have discovered that LINE-1 elements, which make up 17% of human DNA, can cause broad-spectrum mutations by deleting genetic material. In cultured human cancer cells, these elements can delete large segments of DNA, including regions as big as the BRCA1 gene.
A new study suggests that a burst of transpositional activity occurred at the same time humans and chimps diverged, implicating retroelements in the emergence of modern humans. The research found that ancient families of HERV elements may retain biological activity over long evolutionary times.
Comparing the pufferfish genome to the human genome revealed nearly 1,000 previously unidentified human genes, shedding light on gene regulation and function in the human body. The study highlights similarities and differences between vertebrates and finned fish, providing insights into the evolution of human biology.
Researchers at McGill University have made a significant breakthrough in profiling the yeast genome, creating a comprehensive scale for genetic manipulation. This achievement could ultimately lead to the discovery of better drugs for treating human diseases, including certain forms of cancer.
Research suggests that the human immune system's complexity may be limiting the number of genes in the genome, as it requires more self-tolerance and kills off too many immune cells if there are too many genes. This could make further evolution for humans difficult.
Researchers have discovered a gene, Ian5, that appears to affect the function of the thymus and is linked to the development of type 1 diabetes in rats. The identification of this gene may also contribute to human type 1 diabetes and help researchers understand the underlying mechanisms of the disease.
Researchers created a mouse model of hair loss syndrome, which sheds light on the complex interactions between genes and their effects on human diseases. The study found that genetic background plays a significant role in determining the severity of the condition, and could potentially inform gene therapy approaches.
Researchers have discovered zebrafish produce enzymes similar to human COX enzymes, which could lead to new treatments for cardiovascular disease and cancer. The study also shows that drugs targeting COX-2 behave similarly in zebrafish as in humans.
Researchers created mice with human alpha-synuclein gene to study MSA pathology. Healthy cells do not produce this protein, while affected cells form insoluble inclusion bodies.
A recent study published in Science finds that the genetic variation of the nene bird species decreased significantly between 160-850 years ago, likely due to human expansion on the island of Hawaii. The researchers used DNA analysis from ancient specimens and modern captive birds to draw this conclusion.
Researchers used DNA microarrays to analyze 40% of the fruit fly genome and found that genetic changes are the result of many small contributors. The study's findings suggest that human genetic biases may also be caused by small changes in multiple genes.
Researchers found two genes associated with human cancer play a central role in orienting cells towards chemical cues. They discovered that PI3K acts as an internal compass and steering mechanism, allowing cells to move efficiently towards chemical attractants.
Researchers have found that people with depression have a persistent biological abnormality in their serotonin systems, even when not depressed. The study, published in Neuropsychopharmacology, suggests depression reflects a genetic trait and may require longer medication use.
Scientists at UC Davis have found a gene in nematode worms Caenorhabditis elegans that matches a gene altered in one form of dystonia. The discovery may lead to new insights into the disease and potential treatments. Researchers plan to study how OOC-5 interacts with other proteins to better understand its role in human nerve cells.
Scientists discovered that some human LINE-1 elements, known as junk DNA, can jump into chromosomes with broken strands and repair the damage. This finding raises questions about the potential benefits of these ancient genetic elements to human cells.
Researchers suspect that a six-armed brittlestar, common in shallow coral reefs, may have invaded the western Atlantic via ships over the past two centuries. Genetic markers indicate massive long-distance dispersal and recent mixing of populations from the Pacific and Indian Ocean, raising concerns about ecological consequences.
Researchers have discovered a significant link between low birth weight and mitochondrial DNA passed from mothers to offspring. This finding suggests that genetics play a substantial role in determining birth weight, and may also contribute to adult illnesses such as diabetes and heart disease.
A recent study published in Science reveals that chimpanzees and humans have strikingly different patterns of gene expression in the brain, with humans exhibiting accelerated evolutionary change. This difference may hold clues to understanding medical traits such as AIDS, malaria, and Alzheimer's disease.
The study reveals significant differences in human and chimpanzee brain gene and protein expression, with humans accumulating expression differences at least five times faster than chimpanzees. This discovery may provide insights into the genetics underlying diseases that affect humans but not chimps.
A study found that nearly 800 monkeys in Cameroon were infected with simian immunodeficiency viruses, highlighting the risk of human exposure through hunting and handling primates. The diversity among the viruses suggests a high degree of human exposure to SIVs.
Scientists have identified a specific genetic locus associated with fundamental human brain oscillations, contributing to the understanding of brain neuroelectric activity and providing new insights into alcoholism risk. The study found an association between beta EEG frequencies and a cluster of genes located on chromosome 4.
A new study shows that a vaccine based on a chimpanzee adenovirus possesses the immunological strengths of a human adenovirus vaccine without its drawbacks. The vaccine, developed by researchers at The Wistar Institute, has been shown to be effective in mice against rabies and other viruses.
Templeton's analysis reveals human population expansions occurred between 420,000 and 840,000 years ago and 80,000 to 150,000 years ago. Genetic interchange between populations has occurred throughout history, contradicting the idea of replacement events.
Christy Comeaux, a Johns Hopkins University undergraduate, is studying the genetics of fruit flies to understand human organ development. She has made key discoveries about how genes work in humans and how cells position themselves within organs.
Researchers found a shift in diet and personal ornamentation, such as beads, around 40-50 thousand years ago, which may indicate increased human population density. This change occurred simultaneously in Africa, Asia, and Europe, suggesting that modern humans did not expand from a single geographic location.
Researchers at the University of Pennsylvania School of Medicine have found a remote control mechanism that sets human growth hormone into action, operating from 15 kilobases away. This discovery could lead to an eventual gene therapy for type of dwarfism resulting from pituitary gland's inability to manufacture hGH.
Johns Hopkins researchers have identified a protein called stat3-beta that regulates genes involved in systemic inflammation. In mice engineered to lack this protein, researchers found fatal kidney failure due to uncontrolled inflammation, highlighting the potential of stat3-beta as a therapeutic target for human inflammatory diseases.
Researchers have discovered that specific cellular mechanisms confer resistance to cancer in rats, allowing them to develop pre-cancerous lesions but then return to normal. The study aims to identify genes involved in this resistance, which could lead to breakthroughs in human cancer prevention and therapy.
Researchers identified a genetic anomaly in mice resistant to the ecotropic murine leukemia virus, a major cancer-causing virus. By analyzing proteins, they found a defective protein that blocks viral entry, potentially leading to new gene therapies for humans.
The International Collaborative Genetics Research Training Program aims to reduce health disparities through genetic sciences. The program provides Ph.D. and Master's level education, addressing ethics, social, and legal implications of genetics research in low- & middle-income countries.
Scientists have successfully corrected sickle cell disease in mice using gene therapy by introducing an anti-sickling human beta-hemoglobin gene. The study, supported by the NHLBI, shows promising results with high expression of the gene in up to 99% of circulating red blood cells.
Researchers identified a mutated WFS1 gene responsible for low-frequency sensorineural hearing loss, which can lead to severe hearing aids requirements. The discovery may be common in the general population and could connect with other conditions like Meniere's Disease.
A recent study has identified over 100 yeast genes that provide protection against radiation, revealing new insights into human genetic resistance to environmental stressors. The findings also suggest potential targets for the development of more effective anti-cancer drugs.
The symposium explores the effects of genetics research on social organization, human nature, and what it means to be human. Experts discuss race, ethnicity, genes, and human potential, with a focus on values, ethics, and social impact.
Researchers identify Mus81, a resolvase enzyme in fission yeast, as a crucial component of genetic recombination. The discovery has potential implications for cancer therapy, as the enzyme plays a role in cell replication and DNA repair.
Researchers at University of Pennsylvania successfully inserted a foreign gene into male mouse spermatogonial stem cells, achieving high efficiency and expression. The breakthrough enables the creation of transgenic individuals in various species, paving the way for studying human diseases.
C. elegans has a large number of genes due to its genetic makeup and the need for robust development and morphology. The worm's ability to fend off bacteria and other microorganisms in its soil environment is also thought to contribute to its high gene count.
A gene similar to the human cancer-suppressing gene has been identified in a nematode worm, which protects against cancer-causing agents and extends life span under stress conditions. The discovery may lead to novel anti-cancer drugs and a better understanding of human longevity.
Researchers identified a region on Chromosome 4 containing genes that contribute to exceptional longevity. This discovery could lead to the development of drugs that mimic centenarians' genetic characteristics, promoting healthy aging.
Research examines 117 twins and finds that genetics account for 48-59% of periodontal disease differences. The study suggests identifying people at high risk before symptoms appear may lead to new treatment avenues.
The current medical research protocols are out of step with evidence-based medicine and new technology developments, suggests an analysis in the Journal of Medical Ethics. Patients taking part in research deserve the same safety and regulation standards as public transport passengers, yet often receive inadequate care.
A Chimpanzee Genome Project is proposed due to the remarkable differences in diseases affecting humans and chimps. The project aims to identify genetic factors contributing to these disparities, which could lead to better treatments for both humans and captive apes.
Scientists have successfully cloned a piglet using microinjection, marking a significant step towards xenotransplantation and genetically modified organs. The breakthrough could lead to human-friendly pig organs, reducing rejection rates and increasing the success of organ transplants.
Researchers successfully engineered a genetic toggle switch to control the activity of genes between stable on and off states. The toggle represents core technology for genetic control devices with potential applications in diabetes, biological warfare agent detection, and cell-based computing.
Researchers used DNA fingerprinting to identify 16 wine-grape varieties, including Chardonnay, as the offspring of Pinot and Gouais blanc. This discovery provides valuable information for grape breeders, allowing them to preserve old varieties and develop new ones.
David Botstein, Ronald Davis, and Eric Lander were awarded the Chiron Corporation Biotechnology Research Award for their pioneering work on genetic linkage analysis using molecular markers. Their research laid the foundation for the Human Genome Project and enabled the construction of human genetic maps.