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 study on human, chimpanzee, and rhesus monkey genomes reveals that humans and rhesus monkeys have purged ERV-K copies from their genomes, while chimpanzees have retained a greater number of complete ERV-K copies. This finding suggests that genetic fluctuations due to bottlenecks and expansion play a role in shaping ERV-K dynamics.
New findings suggest that misfolded proinsulin can cause beta cell dysfunction and death, leading to an insulin shortage. This can result in the hallmark symptoms of diabetes, including high blood glucose levels.
A new DNA method developed at the University of Copenhagen uses hair samples to answer questions about human history, such as why mammoths died out. The technique also holds promise for forensic analysis in crime solving, providing faster results than traditional methods.
A team of researchers discovered a key protein in plants that creates drug resistance and is similar to proteins found in humans. This finding could help uncover new factors contributing to variable drug responses in humans and advance the understanding of drug sensitivity.
A brain system known to regulate food intake also controls fat storage and metabolism in the body completely independently of food consumption. The melanocortin system may be used to develop new medications to treat human obesity.
A new study has found that bats exhibit unparalleled genetic variation in the FOXP2 gene, which is linked to their unique ability of echolocation. This discovery adds weight to the theory that FOXP2 plays a crucial role in the sensory-motor coordination of vocalizations.
Researchers identified a consistent association between the TRAF1/C5 region and rheumatoid arthritis, suggesting a link to the inflammatory response. The study adds to accumulating evidence that this genetic region is associated with the disease, paving the way for further investigation into its role.
Researchers discovered that specific genetic variants of an odor receptor determine how people perceive pleasant or unpleasant odors. The study focused on two sex steroid-derived chemicals and found that different genetic variations led to varying reactions.
Researchers found humans carry more gene copies than ape relatives to produce more amylase enzyme, which digests starch. This discovery bolsters the idea that starch played a crucial role in early human diet and evolution.
A study published in Neuron found a link between the toxic brain protein Aâ peptide and neuronal overexcitation, leading to compensatory rewiring of brain circuitry. This overexcitation can contribute to cognitive deficits in Alzheimer's disease. Researchers suggest blocking this overexcitation may prevent such neurological deficits.
Researchers found that the genes responsible for color vision in aye-ayes are fully functional, contradicting the long-held theory that nocturnal mammals lose color vision over time. The study sheds light on the evolution of color vision and highlights the importance of examining rare and endangered species.
Researchers have created 3D images of fruit fly brains using optical projection tomography, shedding light on genetic research into Alzheimer's and other human diseases. The images allow scientists to visualize gene expression patterns and gain insights into the human brain.
Researchers at JCVI have published the first true diploid genome from one individual, Craig Venter's, covering over 2.8 billion base pairs. The study reveals high genetic variation between two chromosomes within an individual and uncovers a total of 4.1 million variants, including 3.2 million SNPs.
A study by Cardiff University scientists suggests that human activities such as deforestation and poaching are driving the decline of the giant panda population. The research finds that conservation efforts should focus on habitat restoration and protection to ensure the species' survival.
Researchers discovered that an analog of rapamycin halts production of antibodies and development of lupus in mice, suggesting a potential new approach to combating the disease. The study found that this compound improved symptoms and halted disease progression across different genetic strains of lupus-prone mice.
New research from Duke University reveals that the way genes are used in humans differs significantly from that of chimps and other primates. The study found dramatic differences in gene regulation related to brain development and diet, which may have contributed to human adaptability and susceptibility to certain diseases.
A study reveals that excessive natural antioxidants can lead to reductive stress and heart failure in mice with a specific human mutation. The findings suggest that targeting the antioxidant pathway through a particular enzyme may modify the phenotype of the disease in humans.
Researchers used genetic analysis to determine the origin of a widely disputed stem cell line. The study found that the cell line was derived from a parthenogenetic embryo, not somatic nuclear transfer as previously claimed.
Researchers at Tufts University have identified a specific DNA sequence that increases chromosome breakage and stalls replication, which can lead to cancer. The study's findings suggest that this sequence may be responsible for the fragility in human chromosomes associated with common fragile sites.
A team of researchers at Rice University studied the gene LMO4 in zebrafish, discovering its role in regulating brain growth and development. They found that overexpression of the gene led to shrinkage of brain areas, while underexpression caused their enlargement.
A Cornell study found evidence of recent human adaptation, with 101 regions of the human genome showing strong selection signs. These include genes related to skin pigmentation, muscle attachment, and immune system function.
Researchers found that prenatal cocaine exposure in zebrafish altered neuronal development and acutely dysregulated the expression of circadian genes, including melatonin. Circadian factors may provide new therapeutic strategies to counteract developmental effects of prenatal cocaine exposure.
The Genographic Project, launched in 2005, uses genetics to address anthropological questions globally. The project provides a periodically-updated database comprising all donated data and the Nearest Neighbor haplogroup prediction tool, allowing for accurate classification of mitochondrial lineages.
New study reveals chimpanzees act altruistically toward genetically unrelated conspecifics, even when no reward is expected. This finding suggests the evolutionary roots of human altruism may be deeper than previously thought, reaching back to the last common ancestor of humans and chimpanzees.
Researchers at Fred Hutchinson Cancer Center studied an ancient retrovirus, PtERV1, which infected nonhuman primates 4 million years ago. They found that humans have innate immunity to this virus, but this resistance may have made them more susceptible to HIV infection.
Researchers at University of Utah have developed a faster and less expensive technique for mutating vast, non-gene stretches of DNA. This new approach enables the evaluation of regulatory sequences that control gene expression, potentially leading to breakthroughs in human disease research.
Researchers have characterized mutant phenotypes of fly lamin genes, showing they cause neuromuscular defects and premature aging similar to human laminopathies. This study provides insight into the divergence of gene expression and function through evolution, promising greater understanding of lamin functions and diseases.
Researchers at Harvard University have developed tiny implantable biocomputers that can precisely scan cellular activity, enabling targeted therapies for diseased cells. The devices, constructed from DNA, RNA, and proteins, could revolutionize medicine by directing treatments to specific cells or tissues.
Researchers found that transcription factors bind to different sites in human and mouse liver cells, suggesting distinct regulatory mechanisms. This discovery could help identify patterns in gene expression and provide guidance for researchers using mice to understand human biology.
Researchers have identified the cancer stem cell of rhabdomyosarcoma, a childhood cancer, and uncovered a novel genetic signature driving its progression. The discovery opens up new avenues for targeted therapies to prevent recurrence and metastasis.
The opossum genome sequence has provided significant insights into the evolution of the mammalian immune system, revealing similarities with human immune-related genes. The sequence also revealed ancient DNA elements that have been recruited for specific biological activities, such as regulating gene expression.
The gray, short-tailed opossum's genome reveals insights into connections between humans and other species, as well as the evolution of mobile elements. Mobile elements make up about 52% of the opossum genome, with distinct compositional differences compared to primate genomes.
A recent study identified a gene mutation that contributes to human cognition, which is exclusive to humans. The mutation affects the splicing pattern of the neuropsin gene, creating a longer protein involved in learning and memory.
Deepak Srivastava, GICD Director, received the prestigious E. Mead Johnson Award for his work in understanding normal and abnormal cardiogenesis. His research focuses on using knowledge of cardiac developmental pathways to devise novel therapeutics for human cardiac disorders.
Researchers discovered a genetic mutation that increases muscle mass and enhances racing performance in whippets, similar to humans. Whippets with one mutated copy of the myostatin gene are more muscular and fast, while those with two mutated copies have excessive muscle and poor athletic performance.
The study identifies a cluster of essential genes on mouse chromosome 11 that are highly conserved across species, including humans. This finding suggests that there may be rules governing the structure and organization of chromosomes.
Bruce Stillman, Cold Spring Harbor Laboratory President and Cancer Center Director, has received the Curtin Medal for his pioneering work on DNA replication in cells. His research focuses on understanding illness, particularly cancer, and has contributed to knowledge of human virus replication and genome accuracy.
Researchers discovered that protein RecQ takes on opposite functions in E. coli compared to yeast and humans, highlighting the need for considering both possibilities when studying protein roles in disease. The study found three forms of RecQ associated with cancer syndromes in humans, while its function in E. coli promotes cell death.
A microRNA in mouse immune cells is shown to balance the response of immune defenses, with its equivalent human gene playing a vital role. Knockout mice develop autoimmune symptoms and are less resistant to bacterial infections, highlighting the importance of this microRNA in the immune system.
A study by the Spanish Ageing Research Network found that melatonin, naturally present in food sources like corn, oats, and cherries, delays oxidative damage and inflammatory processes typical of old age. Daily melatonin intake could prevent or delay illnesses related to aging, such as neurodegenerative disorders and diabetes.
Researchers at Stanford University School of Medicine and the University of California-Santa Cruz found nearly 10,000 identical genetic snippets that play a role in controlling when genes turn on and off. These 'regulatory jungles' are abundant near genes involved in cell migration and organ development.
Research by Erik Trinkaus suggests that early modern Europeans exhibited Neandertal traits, reflecting both African and Neandertal ancestry. The analysis indicates a small behavioral difference between groups, suggesting they saw each other as social equals.
The draft sequence of the rhesus macaque genome will enable researchers to study disease progression at the genetic level, providing insights into human health and evolution. The findings also reveal unique aspects of the macaque's immune system response and genome organization.
Researchers analyzed the macaque genome to identify genes that have evolved in humans compared to other primates, finding significant changes in hair and immune system genes. The study also identified genetic variations on the X chromosome, providing insights into human evolution and disease gene identification.
Researchers identified a dominant gene mutation in Dmc1 that causes male infertility in mice. The study provides insights into the genetic causes of infertility in humans and suggests potential applications for fertility treatments.
A study published in Science found a mutation in the IGF1 gene that affects body-size differences among dog breeds and may also play a key role in determining human body size. The researchers analyzed DNA from over 3,000 dogs of different breeds to identify genes linked to size variations.
Researchers at Texas A&M University are studying fruit flies to understand cellular differentiation and chromosome counting. They hope to uncover mechanisms that can help shed light on human genetic maladies such as color blindness and hemophilia.
Research reveals that birds can live with higher doses of sex-related genes due to ineffective dosage compensation. This challenges current thinking about the role and mechanisms of dosage compensation in species with heteromorphic sex chromosomes.
Researchers discovered a gene called Atp5a1 that, when mutated, reduces the incidence of polyps in mice. The mutation leads to decreased levels of Atp5a1 gene expression, which may provide insights into its potential role in human cancer.
A University of Florida study reveals that humans acquired pubic lice from gorillas around 3.3 million years ago, providing insights into human evolution and the history of parasites. The research suggests that lice can be transmitted through non-sexual means, such as sleeping in close proximity or feeding on prey.
A study published in PNAS reveals that genes of human and chimpanzee underwent a rigorous two-step filtering process, with radical mutations more harshly screened. The researchers estimated that around 10-12% of genetic changes between humans and chimpanzees are adaptive, with most responsible for significant evolutionary divergence.
Researchers found that increasing connexin26 in mice with missing connexin30 restored hearing sensitivity and prevented hair cell death. The discovery suggests a potential drug treatment for congenital deafness, which may replace gene therapy.
Six UCI scientists received CIRM SEED grants to study human embryonic stem cells in various diseases, including muscular dystrophy and mitochondrial dysfunction. The research aims to develop therapies for patients suffering from these conditions and improve the therapeutic potential of human embryonic stem cells.
A Finnish twin study reveals that acquired obesity is associated with deleterious alterations in lipid metabolism, including increased lysophosphatidylcholines and decreased ether phospholipids. The study also found a link between the obese twins' serum lipidomic profile and whole body insulin resistance.
Cold Spring Harbor Laboratory scientists have identified a new tumor suppressor gene, CHD5, which prevents multiple types of cancer. The gene's role in regulating the tumor-preventing power in cells suggests that modulation of its activity may provide novel strategies for better design of more effective cancer therapies.
Research by G. Edgar Folk and colleagues found that Arctic animals, including rodents, maintained a 24-hour cycle of rest and activity despite living in continuous light. The study suggests that these animals may be conscious of the sun's position in the sky and use it as a cue to regulate their circadian rhythm.
A prototype code of ethics for life sciences aims to shape ethical practice by defining principles such as objectivity, research freedom, and virtues like duty and integrity. The code is necessary due to the high stakes of scientific advancements in human history.
A University of Utah study found that a mutant gene that affects nerve-cell elasticity may have contributed to spinocerebellar ataxia type 5 (SCA5), a disease previously linked to President Abraham Lincoln's family. The discovery raises the possibility that Lincoln himself may have had SCA5.
A 40,000-year-old skull found in Romania shows both modern human and Neandertal characteristics, indicating complex population dynamics as humans spread into Europe. The skull, named Oase 2, has a mix of archaic and derived features, raising questions about the evolutionary history of modern humans.
Researchers reevaluate human migration, proposing a new timeline for the spread of modern humans out of Africa. According to studies involving fossil analysis and genetic research, this migration likely took place between 40,000 and 60,000 years ago.