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.
Dan R. Littman receives the $100,000 Vilcek Prize in Biomedical Science for his fundamental insights into the immune system and its role in HIV pathogenesis. Young researchers Fernando Camargo, Roberta Capp, and Houra Merrikh win $50,000 Vilcek Prizes for Creative Promise for their innovative work on blood cell development.
A Spanish study analyzed 2,000 volunteers and found that men sharing rare surnames have similar Y chromosomes, indicating they descended from the same original bearers. The correlation between surname frequency and Y chromosome variation only depends on surname frequency.
A high-fat diet during pregnancy and lactation leads to epigenetic changes in the offspring, affecting metabolic pathways regulated by the gut hormone GIP. Adult offspring are more susceptible to obesity and insulin resistance, similar mechanisms cannot be ruled out in humans.
Researchers at Columbia University develop a new model considering life history traits' impact on mutation rates, finding that the molecular clock wobbles as it evolves. This leads to revised estimates of the human-chimp split time, supporting a mutational slowdown and reconciling genetic and paleontological data.
A new study reveals that grey squirrels may not be as hardy as thought and were helped more by humans in their conquest of the British Isles. The research shows that different populations are genetically distinct, tracing human intervention in their movement to new areas.
A study exploring GABPa gene regulator reveals its influence as a master switch in energy metabolism and human brain evolution. Key findings include enrichment of GABPa sites at genes important for unique human functions and associations with diseases like Alzheimer's, Parkinson's, and breast cancer.
A Northwestern University study uses fruit fly genetics to understand how normal cells switch to specialized states and how this process might go wrong in cancer. Researchers found that a protein called Yan fluctuates wildly during this transition, suggesting a critical role in the development of cancer cells.
A team of researchers has developed a system that predicts how to create any human cell type from another, eliminating the need for trial and error. This breakthrough has significant implications for treating various medical conditions and diseases.
A study of over 13,000 couples found that genetic variation affecting height influences mate choice, revealing an innate preference for partners of similar height. The research provides new insights into the mechanisms driving sexual attraction and human variation.
Researchers found a change in gene expression that may have contributed to the development of a weight-bearing structure in humans, allowing for bipedalism. The study identified a region in the human genome responsible for controlling armor plate size in threespine sticklebacks, which expressed higher levels of GDF6 in freshwater fish.
The CRISPR genome editing technique has been hailed as a breakthrough due to its ability to deliver genes precisely, low cost, and ease of use. It has enabled the creation of gene drives, human embryo editing, and the deletion of retrovirus DNA in pig genomes.
Researchers at the University of Zurich have made a groundbreaking discovery that the nucleus acts as a passive filter to regulate gene activity, reducing random noise. By visualizing subtle physiological details with microscopic dyes, they were able to detect and predict the activity of individual genes in human cells.
A recent study published in Oncogene reveals that alterations in an intermediate molecule called RNA can lead to protein mutations without DNA damage. This discovery highlights the importance of RNA editing enzyme ADAR1 in regulating gene expression and contributing to tumor growth.
Researchers at Joslin Diabetes Center have identified a key liver protein that accelerates the growth of insulin-producing beta cells, a critical step in treating all forms of diabetes. The protein, serpinB1, was found to be highly expressed in liver cells and boosted beta cell proliferation in human and mouse islets.
Researchers at UT Health Science Center discover how poxviruses outsmart the body's immune system by targeting a key restriction factor called SAMD9. This finding has significant implications for cancer treatment and therapy, as SAMD9 also suppresses tumors.
A Rutgers study links a protein in sperm to its counterpart in roundworms, providing clues to human infertility. The discovery could lead to more effective treatments and better contraceptives.
The Unified Microbiome Initiative aims to study the planet's least understood ecosystems, with potential breakthroughs in medicine, agriculture and environmental science. New genomic tools have linked microbes to various health issues, including obesity and brain development.
Researchers discovered unique gene variants that protect against neurodegenerative diseases in older adults, preserving their valuable contributions to society. These protective genes are present in Africa and evolved to help preserve elderly wisdom and cultural knowledge.
A comprehensive genomic study of turtle shells has identified unique adaptations in genes that control hard cutaneous layers, dating back to the evolution of claws and feathers. The study also reveals a shared genetic organization between turtles and humans, highlighting the common ancestry of these defense mechanisms.
A recent study by the University of Chicago has found that loneliness triggers fight-or-flight stress signaling, leading to increased production of white blood cells and impaired antiviral responses. This shift in monocyte output contributes to loneliness' associated health risks, including premature death.
Researchers at Kumamoto University have successfully connected iPS-derived kidney cells to a capillary network, enabling the formation of a functional filtration membrane. This breakthrough has significant implications for regenerative medicine and organ transplantation, particularly for patients with renal failure.
A collaborative team of researchers identified over 100 genes crucial for high-altitude adaptation in fruit flies, including more than 40 human equivalents. These genes prioritize respiratory system development and metabolic rewiring, enabling organisms to thrive in low-oxygen environments.
Researchers discovered human brains exhibit greater plasticity and adaptability than chimpanzee brains. Human brain organization is less influenced by genetics compared to chimpanzees, suggesting a strong role for environmental factors in shaping the human cerebral structure.
Research finds men carrying ApoE4 gene suffer more tiny brain bleeds and memory loss than women with similar diagnoses. The study provides new insights into the effects of ApoE4 on Alzheimer's disease in humans.
Michihisa Umetani, a University of Houston professor, has won a $5,000 grant from the Neuron-Genetics Institute to further research into hereditary spastic paraplegia type 5A. The prize will help him and his team investigate the role of 27-hydroxycholesterol in human physiology and disease.
Researchers at USC and Sangamo BioSciences have developed a more efficient method for editing genes in blood-forming stem cells (HSPCs), which could potentially treat diseases such as HIV and other blood disorders. By combining two delivery methods, the team achieved unprecedented efficiency rates ranging from 15 to 40 percent.
A team of researchers has developed a C. elegans worm model with mutations that cause Retinitis pigmentosa, a rare blindness subtype affecting over 1 million people worldwide. The study reveals the disease's specificity in the retina and proposes a new hypothesis based on genomic instability.
Researchers at the University of Pennsylvania School of Medicine used state-of-the-art techniques to survey the skin's virus population, or virome. Most DNA viruses on healthy human skin are viral 'dark matter' with never been described before.
Researchers have identified 1,450 genes linked to ageing, as well as a connection between these genes and lifestyle factors. The study found that individuals with a biological age older than their actual age are more likely to have conditions such as high blood pressure or cholesterol.
Researchers discovered evidence of plague infections in humans 4,800 years ago using DNA sequencing from ancient tooth samples. The Yersinia pestis lineage is believed to have acquired key virulence genes around 3,700-3,000 years ago, allowing it to spread via fleas.
Rutgers Genetics Research Center has been awarded a five-year grant to provide comprehensive stem-cell related services, including iPSC derivation and quality control. The new grant will enhance access to high-quality stem cells for researchers investigating Parkinson's, ALS, and Huntington's diseases.
A study of fossil species on Great Abaco Island reveals that humans were more significant a threat to island biodiversity than climate change. The discovery highlights the impact of human activities such as habitat alteration and introduction of invasive species, which can lead to rapid extinctions.
Researchers have identified the protein Panoramix, which enables cells to silence specific genes and prevent transposons from disrupting genomes. This discovery provides new insights into the innate defense mechanisms against genetic elements that can cause sterility in animals.
A study published in PLOS Medicine identified genetic ablation of P2RX7 as a promising approach to treating Duchenne muscular dystrophy, improving muscle structure, strength, and reducing cognitive impairment and bone loss. The findings suggest that P2RX7 antagonists may also reduce certain DMD phenotypes.
A new grant from the NIH will support the creation of a national chimpanzee brain resource at GW University, providing access to tissue samples, MRI scans, and data for scientists. The resource aims to promote further study of chimpanzee brains for future generations.
New research reveals the three-dimensional structure of supercoiled DNA, showing it forms multiple shapes, including figure-8s and handcuffs. The study challenges the traditional Watson-Crick double helix structure, suggesting a dynamic nature that helps explain how a meter of DNA can fit in a human cell.
Researchers at Baylor College of Medicine studied tiny DNA minicircles containing only 336 base pairs to understand biologically active DNA. They found that the coiling caused many different shapes, including sharp bends and figure-8s, and showed how these structures facilitate DNA interactions with proteins and anticancer drugs.
Scientists have identified microbes that produce methylmercury, a highly toxic form of mercury, in environments such as coastal sediments, marshes, and rice paddies. The discovery builds on previous work and highlights the risk of increased methylmercury production due to climate change.
Researchers identified a common genetic variant associated with aneuploidy, a condition causing chromosome gains and losses during embryonic development. The variant was found to be strongly linked to early pregnancy loss and IVF treatment failure.
Research reveals that human activities, particularly deforestation and fires, are driving genetic differentiation among the Udzungwa red colobus monkey in Tanzania. The study's findings suggest that these changes are threatening the species' survival, as smaller populations become isolated and more susceptible to extinction.
Researchers have discovered a new gene locus that explains why some African children develop severe malaria while others do not. The genetic variant, found in Kenyan children, reduces the risk of severe malaria by about 40% and lies within a region of the genome shared with chimpanzees.
The American Society for Cell Biology announced the winners of the 2015 Kaluza Prizes, recognizing outstanding graduate student bioscience research. Ten young scientists received cash and travel awards for their contributions to cell biology.
Researchers successfully silenced genes in human cells to induce immunity against the parasitic disease caused by E. histolytica, which affects 50 million people worldwide. The study identified key genes involved in managing potassium flow into and out of human cells, paving the way for new drug targets.
A highly detailed model of mouse brain connections may provide new insights into mental illnesses such as depression and schizophrenia. The study used diffusion MRI scans to create a 3D digital map of the brain's circuitry, exceeding previous resolution by 1,000 times.
An international research team has identified a novel gene, EN1, associated with osteoporosis and bone mineral density. The study used extensive genetic data from the UK10K project to uncover a genetic variant near EN1 with the strongest effect on BMD and fracture.
Researchers from UC Davis developed a novel sensor coating material using nanoporous gold to detect nucleic acids in complex biological samples. The method enables sensitive detection of DNA without requiring purification, enabling faster and more efficient process for field applications.
Scientists from Karolinska Institutet have identified 32 genes that are switched on within two days of fertilization, marking a significant breakthrough in understanding early embryonic development. The study's findings also reveal the importance of 'junk DNA' in regulating gene expression.
A research team used ancient-DNA analysis and radiocarbon dating to reconstruct population histories for prehistoric seabirds in New Zealand. They found that mainland populations were rapidly decimated after human arrival, while Stewart Island populations remained relatively stable due to a decline in human numbers.
Research found that oysters serve as a major reservoir for noroviruses, with over 80% of human norovirus genotypes detected in oyster samples. This highlights the importance of surveillance and safe handling of oysters to prevent transmission.
Scientists have identified 18 proteins crucial to the transformation of fungal spores into disease-causing yeast, offering hope for preventative treatments. By blocking these proteins, researchers aim to prevent the spread of meningitis and other fungal diseases.
A University of Queensland scientist cautions against shark culling, citing challenges in managing populations and predicting long-term ecological impact. The expert's research uses DNA analysis to estimate shark numbers and predict population trends.
Researchers at MIT and Harvard Medical School discovered a new pathway that controls human metabolism by prompting adipocytes to store or burn fat. The study identified two master controllers of thermogenesis, IRX3 and IRX5, which turn off fat storage genes and restore energy balance.
Researchers found that lager yeast, used in 94% of beer production, originated from the accidental hybridization of Saccharomyces cerevisiae and S. eubayanus yeasts around 500 years ago. The study reveals how these natural processes led to the development of a yeast that could thrive in cold temperatures.
Researchers at the University of Basel used computational models to describe human memory processes for the first time. The study identified specific genetic profiles underlying distinct mental processes, such as learning and memory storage.
Researchers find daily changes in specific brain neurons help regulate biological clocks and aid transitions to different seasons. The study identifies a protein driving these rhythms, Rho1, and highlights its connection to spinocerebellar ataxia.
Researchers have identified two gene variants on chromosomes 15 and 8 associated with earlier- or later-than-expected symptom onset in Huntington's disease patients. The findings suggest that these variants may influence the disease process prior to symptoms appear, offering new potential therapeutic strategies.
Scientists at Van Andel Research Institute have unraveled the molecular mechanism of TOPLESS, a plant protein that interacts with other molecules to regulate gene silencing. This discovery provides insights into similar pathways in humans and has significant implications for understanding diseases such as cancer.
A new study using ancient DNA and paleoclimate data found that rapid warming events played a greater role in the extinction of megafauna than human activity. The researchers analyzed DNA records over 50,000 years and compared them to climate event records from Greenland ice cores.
A 13-year study found that humans are the biggest threat to Southern California mountain lions, causing over half of known deaths. The population's declining genetic diversity is exacerbated by an interstate highway that bisects their habitat.
A UGA study found that salmonella levels in freshwater sources across Georgia pose a significant risk to human health. The research team discovered that strains of salmonella exhibit geographic trends, with higher rates found in south Georgia and wildlife carriers like raccoons and opossums contributing to the problem.