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 new computational approach has identified genes that may enable microbes to colonize the human gut and survive in its harsh environment. The researchers found thousands of genes across different species that are prevalent in the gut, including those specific to this environment.
A team of researchers has successfully sequenced the genomes of 25 ancient individuals from Southeast Asia, revealing six distinct population groups. The findings suggest that prehistoric populations in the region had higher genetic affinities with present-day Japanese and were influenced by language-speaking groups such as Austronesians.
Researchers have discovered a nematode worm that develops similar nerve damage to humans when exposed to mutated TTR proteins. The C. elegans model allows scientists to study the molecular mechanisms of TTR-linked diseases and potentially develop new treatments.
Research from Purdue University found that when two strains of a parasite infect a host, the combined virulence is often worse than with only one strain. This could be bad news for people affected by schistosomiasis, a disease prevalent in Africa, the Middle East, and the tropics.
Researchers found that modern pygmy genomes showed no evidence of gene flow from the extinct 'hobbit' species, contradicting previous expectations. However, they did find genetic variants associated with short stature and dietary adaptations in genes involved in fatty acid metabolism.
The study of Flores pygmy humans shows they have Neanderthal and Denisovan ancestry, but no direct link to Homo floresiensis. The short-statured phenotype is a result of recent polygenic selection on standing genetic variation.
Researchers have developed a more sensitive single-cell RNA sequencing method, mcSCRB-seq, to analyze the functional state of individual cells. This technique provides a molecular fingerprint of each cell's mRNA population, revealing its protein-making capacity and gene regulation.
A study at New York University found that people's facial emotion recognition varies based on their conceptual understanding of emotions. When individuals believe certain emotions are more similar, the faces of those emotions are perceived as more similar, suggesting a role for pre-conceived beliefs in emotional perception.
A Belgian study emphasizes the need for human-based tools in treating non-alcoholic steatohepatitis (NASH), a chronic liver disease impacting millions globally. The study proposes a roadmap to better understand NASH's biological mechanisms, crucial for developing effective treatments.
Cecilia Lindgren receives ASHG Mentorship Award for sustained exemplary mentorship, recognizing her wide-ranging impact on mentees' research fields and career paths.
Researchers identify structural and functional differences in human cGAS that set it apart from other mammals, enabling its unique immune-sensing capabilities. The discovery informs the design of precision cancer therapies by targeting the protein's specific structural features.
Researchers have identified a human protein, DDX3, that is exploited by arenaviruses to promote viral growth and evade the immune system. This discovery suggests DDX3 could serve as a potential target for new anti-arenavirus strategies.
Scientists analyzed 182 Candida albicans genome strains to understand its reproductive methods and genetic diversification. The study confirmed clonal reproduction but also found evidence of parasexual reproduction contributing to the pathogen's ability to adapt and evolve.
The Finnish opera scene is experiencing a surge in diversity and creativity, thanks to its emphasis on equality and inclusivity. Over 300 operas have been composed in Finland between 1990 and 2017, with the number of new works increasing significantly in the 21st century.
Researchers discovered a genetic link between left-right brain asymmetry and melatonin production in fish, shedding light on pineal gland function. The study found that a protein called Bsx controls the development of the pineal complex, leading to disrupted sleep-wake cycles.
Orangutans' evolution has been heavily influenced by humans over thousands of years. The critically endangered species can adapt to survive in human-dominated landscapes, expanding their habitat range.
Researchers developed a new model for comparative genomic analysis, revealing differences in gene regulation between primate species. The Phylogenetic Hidden Markov Gaussian Processes model provides insights into what makes a human a human and has implications for understanding evolution and certain diseases.
A comprehensive survey of mammalian microbiomes found humans to have a significantly lower diversity of skin microorganisms compared to other mammals. This difference may be attributed to modern hygiene practices, habitat, and co-evolution between host and skin microbial communities.
A team of researchers analyzed two 3,800-year-old genomes, identifying the oldest sequenced strain with virulence factors characteristic of bubonic plague. The study suggests a Bronze Age origin for the disease, dating it back around 4,000 years.
CWRU School of Medicine researchers synthesized the first artificial human prion, offering hope for treatment and cure of brain-wasting diseases. The discovery provides a basis for understanding how mis-folded protein structure affects prion transmissibility and manifestation in humans.
Researchers found dominant strains of equine-like G3 rotavirus infecting children in Indonesia, genetically different from human strains, shedding light on virus travel and evolution.
A study analyzing ancient Icelandic genomes of 25 individuals from the island's colonization period (870-930) found that present-day Icelanders have a 70% Norwegian genetic fingerprint. The analysis also revealed a gender bias in the population, with men of Scandinavian origin having more offspring than women of Celtic origin.
Researchers at Charité - Universitätsmedizin Berlin have developed a new drug to treat patients with genetic obesity caused by a leptin receptor defect. The treatment has shown significant weight loss in patients, and the study's findings provide insights into the fundamental signaling pathways regulating satiety.
Researchers used human and C. elegans data to understand the mutational causes of cancer, finding a resemblance between nematode worms and human cancer genomes. They discovered DNA mismatch repair deficiencies in both species, providing insights into the causes of cancer and potential treatment avenues.
Researchers have discovered that formate supplementation can prevent most neural tube defects in mice that are resistant to folic acid treatment. The study found that disrupting formate synthesis was linked to the development of these defects, and that providing pregnant mice with extra formate could prevent them. These findings offer ...
DNA analysis of ancient latrines reveals past diets, animal domestication, and hunting practices in Northern Europe and the Middle East from 500 B.C. to 1700 A.D., with parasite eggs reflecting raw or undercooked fish and pork consumption.
A National Institutes of Health (NIH) study has found no evidence of transmissibility of chronic wasting disease in cynomolgus macaque monkeys. The research, published in the Journal of Virology, involved exposing 14 macaques to brain matter from CWD-infected deer and elk over a period of up to 13 years.
A team of City College-bred fruit flies and parasitic wasps are part of an International Space Station experiment to understand how the human immune system reacts to spaceflight conditions. The goal is to inform astronauts on potential infections during long-duration missions.
Researchers discovered genetic and epigenetic changes in humans and chimpanzees that increase the fight-or-flight response, a trait more common in species with warfare history. These adaptations may have played a role in shaping human warfare.
A study published in Cell found that the Bajau people of Southeast Asia, who spend their lives at sea, have larger spleens than non-divers due to genetic adaptation. The research suggests that this adaptation is a rare example of natural selection in modern humans and could provide insights into managing acute hypoxia.
Scientists from Brigham and Women's Hospital have developed 3D mini-brains from human stem cells to investigate the effects of a specific gene mutation tied to major mental illnesses. The results show that the mutated mini-brains exhibit structural disruptions, suggesting a potential new target pathway for therapies.
Researchers identified Histone Deacetylase 7 (HDAC7) as a potential target for new autoimmune disease treatments. The study found that altering HDAC7 function in mice can cause autoimmune diseases, while also improving symptoms when the gene is restored.
Researchers at University of Sydney establish method to identify individual extracellular vesicles (EVs) using resonance-enhanced atomic force microscope infrared spectroscopy. This allows for biomarkers for diverse diseases such as cancers, cardiovascular, kidney and liver disease, dementia, and multiple sclerosis.
A research team at Lund University has discovered a crucial mechanism regulating protein production in hematopoietic stem cells. The enzyme PUS7 and pseudouridine modification play a vital role in controlling protein synthesis machinery. This control ensures the correct amount of proteins is made, preventing unbalanced stem cell growth.
Researchers at Friedrich-Alexander-Universität Erlangen-Nürnberg have identified a new molecular cause of aggressive infant leukemia in children. The study found that changes in genes in white blood cells disrupt cell growth control, leading to the production of abnormal proteins that facilitate leukaemia.
Researchers analyzed inner ear structure in humans from diverse populations, finding variation within populations greater than between them. The shape of the labyrinth correlates with dispersal distance from Africa, providing insights into human migration history and population movements within continents.
Researchers discovered mouse genes that enhance human T-cell power against liver cancer, offering new hope for patients. Engineered human T cells eradicated cancer without harming normal liver tissue.
Researchers analyzed 221 skeletal specimens to examine the correlation between inner ear morphology and genetic markers reflecting human dispersal from Africa. The study found that labyrinth morphology corresponds with dispersal patterns, offering a new avenue for individual-based genotype and phenotype comparisons.
Researchers at Texas A&M University found that early settlers in interior western Canada used the Pacific coastal route to reach temperate North America, contradicting traditional theories of migration. The fluted spear points provide evidence supporting new genetic models explaining how humans colonized the New World.
Researchers from CIRAD and Hong Kong University find MERS-CoV strains in African dromedaries differ from those in the Arabian Peninsula, explaining virus transmission. Genetic differences may account for disease not being transmitted to humans in West and North Africa.
A new medicine that slows balding may also improve blood flow to vital organs by increasing arterial diameter and restoring elastin content. This could help reduce the risk of death, stroke, and other cardiovascular-related illnesses.
Researchers discovered two distinct episodes of Denisovan genetic intermixing between modern humans and Denisovans. The genomes of modern Papuan individuals contain approximately 5% Denisovan ancestry, while East Asians have a second set of Denisovan ancestry not found in South Asians and Papuans.
Researchers found Neotropical fruit species in Central and South America have larger geographic ranges when linked to human diets, suggesting human impact on species distribution. Human use of these fruits may have driven the expansion of their ranges.
A study has identified a critical protein interaction that triggers the development of spinocerebellar ataxia type 1 (SCA1), a rare neurodegenerative disease. The researchers found that polyQ-ATAXIN1 forms a complex with capicua, which disrupts gene expression and leads to neurodegeneration.
A new study provides some of the strongest evidence yet of speciation reversal, where two distinct lineages of Common Ravens have hybridized and merged into one. The research analyzed genomic data from hundreds of ravens across North America and found extensive intermixing between the California and Holarctic lineages.
A study identified 149 variants in 22 genes, classifying them as pathogenic or likely pathogenic, and found NPHS2 was the most common mutated gene. The researchers hope to understand the correlation between genotype and phenotype to improve diagnosis and treatment for patients with nephrotic syndrome.
Researchers used open-source software and genetic analysis to identify the male brown bear that killed a female and her two cubs in the Italian Alps. The study provides new insights into infanticide in small populations, highlighting its impact on species conservation.
Researchers at Princeton University have identified a drug that can extend egg viability in worms, which could theoretically increase women's reproductive lifespan. The study suggests that the drug could help slow age-related decline in egg quality and potentially extend fertility by three to six years.
Scientists have identified a key protein quality control mechanism in the brain that plays a crucial role in regulating appetite and weight. The discovery sheds light on how genetic mutations can lead to severe forms of childhood obesity.
A global genomic study has identified genes that influence complex trait of height in cattle, confirming findings with miniature cattle and ancient DNA. The study's collaborative approach also reveals a high degree of overlap with human and dog genomes, opening up new possibilities for research on traits like temperament and body fatness.
Researchers created an open-source data atlas of human kidney development, providing detailed molecular and cellular information. The dataset will accelerate stem cell-based technologies for kidney replacement and regeneration therapies.
The Scanpy software is a candidate for analyzing the Human Cell Atlas, enabling comprehensive analysis of large gene-expression datasets. It uses graph-based algorithms to characterize cells by identifying their closest neighbors, similar to social networks.
A study at Columbia University Irving Medical Center found that far-UVC light can efficiently kill aerosolized influenza viruses in the air without harming human tissues. The use of overhead far-UVC light in hospitals, schools, and other public spaces could provide a powerful check on seasonal influenza epidemics.
A genetic study found that house dust mites replaced the traditional Piwi pathway with a new small RNA mechanism to control transposable elements, affecting up to 1.2 billion people worldwide. The discovery provides insights into the evolutionary history of these common indoor pests.
Direct DNA sequencing is uncovering unexpected genetic connections between ancient and modern populations in Eurasia, suggesting early gene flow or population structure that led to Europeans and Asians. Genetic analyses also reveal Neanderthal ancestry and mixing events, providing new insights into human prehistory.
A jawbone dating to 177,000-194,000 years ago has revealed that modern humans were present in the Levant at least 50,000 years earlier than previously thought. The discovery suggests an earlier demographic replacement or genetic admixture with local populations.
The study found that mitochondrial DNA mutation rates differ across various tissues, particularly in reproductive cells, which could lead to devastating diseases if passed to future offspring. Researchers used a novel method to isolate mitochondria from specific cells, shedding light on the mechanisms regulating gene mutations.
Researchers discovered a complex system regulating the same genes in humans and mice, yet evolved independently. Noncoding RNAs with origins in DNA segments inserted by retrotransposons played a key role in this convergent evolution.
A recent study by USAMRIID and collaborators found that the monkeypox virus outbreak in Nigeria likely originated from a local source, with one of the earliest cases dating back to 1971. The findings highlight the importance of local surveillance for early detection of viral spillovers.
Researchers at Newcastle University found that a small adaptation in the protein p62 helps cells respond to stress and activate autophagy, a process that removes damaged components from cells. This discovery could help explain why humans have increased natural defenses and longer lifespans compared to other organisms.