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 study analyzing 136 ancient Iberian genomes uncovers a genetic mix of local Chalcolithic ancestry and incoming steppe-related ancestry, with additional signals from the Mediterranean and Asia. The data suggests a structured social organization and early state-like formations during the Copper Age to Bronze Age transition.
Researchers developed a novel model to identify specific genes and genetic alterations in multiple myeloma, stratifying the cancer's severity via DNA and RNA sequencing. This model revealed diverse subtypes and high-risk patients beyond current classifications.
Researchers from the University of Rochester have further evidence that genes are evolving defensive mechanisms to counteract harmful genetic elements. The study found that specific genes developed weapons-like structures to combat 'parasites' in the human genome, highlighting the ongoing 'arms race' between these two forces.
A new study found that tumors with one mutant copy of the PIK3CA gene tend to have lower PI3K activity, while those with two or more copies often have higher PIK3α activity, leading to more aggressive tumors and poorer prognosis. The research also discovered a counterintuitive relationship between PI3K mutations, PI3K activity, and ste...
Researchers have made significant breakthroughs in understanding Parkinson's disease, revealing that affected neurons don't die but lose properties. This knowledge opens the door to new therapeutic treatments targeting the cell body, rather than just axons.
A team of experts from Tel Aviv University has identified 5 coronavirus proteins responsible for damaging blood vessels. The researchers hope that the identification will lead to the development of targeted drugs that reduce vascular damage in COVID-19 patients.
Researchers found that a receptor in the brain detects nutritional state and regulates puberty timing and growth rate, explaining why humans have been growing taller and reaching sexual maturity earlier over the past century. The discovery has immediate practical implications for testing children with growth delays.
Researchers used a yeast model to understand the dynamics of early-stage ribosomal subunit assembly, discovering snR190 functions as an RNA chaperone. The study also identified Dbp7 as the enzyme responsible for dissociating snR190 from ribosomal RNA precursors.
A team of scientists developed a free VR tool called singlecellVR, allowing users to explore single-cell datasets in VR. The program is built on previous advancements and enables users to visualize their own precomputed data directly from commonly used single-cell analysis tools.
A recent study by the University of California - San Diego team discovered that glycogen regulates and promotes fat metabolism, helping to balance energy intake and expenditure. The research suggests modulating glycogen metabolism in fat cells could provide new approaches for weight loss and improved metabolic health.
A genomic study of the Tarim Basin mummies in western China found that they were direct descendants of a once widespread Pleistocene population known as Ancient North Eurasians. The mummies show no evidence of admixture with other Holocene groups, forming a previously unknown genetic isolate.
A man has been confirmed as the great-grandson of Sitting Bull using ancient DNA extracted from his scalp lock. The new technique analyzes autosomal DNA to establish familial relationships between living and historical individuals, with potential applications in forensic investigations.
A recent study has discovered genetic markers associated with high levels of lipopolysaccharide (LPS) in the blood, a toxin linked to sepsis and cardiovascular diseases. The research also found a connection between LPS levels and blood coagulation disorders, such as thromboembolism and stroke.
The study analyzed data from 8,502 genetically high-risk children and found that half developed type 1 diabetes before age 6, while the other half developed it between ages 6 and 12. The findings suggest a different form of type 1 diabetes emerges in children as they grow older.
A team led by NYU Langone's Robert Montgomery successfully transplanted a genetically engineered pig kidney into a human body, marking a major step forward in xenotransplantation. The procedure, performed on September 25, 2021, used a GalSafeTM pig with the alpha-gal biomolecule removed to avoid rejection.
A new study identifies 13 genes as key factors in shaping physical fitness through various forms of exercise. Genetic differences account for up to 72% of the variation in muscle strength improvements.
A recent study published in PaleoAmerica journal challenges the long-held theory that Native Americans originated from Japan. The research, led by Professor Richard Scott, analyzed genetics and skeletal biology of teeth samples from multiple continents, finding little connection between the Jomon people and Native Americans.
Researchers at UMass Amherst discovered that molecular chaperones display 'selective promiscuity', enabling them to play a crucial role in maintaining healthy cells. This property allows chaperones to help many different proteins, which is essential for cell health.
A new genetic study reveals hundreds of genes that evolved to be turned on or off in the human uterus during early pregnancy, shedding light on what makes human pregnancy uniquely human. These genes are involved in cell-to-cell communication, immune response regulation, and placental invasion, highlighting the importance of evolutionar...
Researchers at Lund University discovered a previously overlooked part of our DNA that appears to contribute to the development of human and chimpanzee brains. The study found that humans and chimpanzees use a structural variant of DNA in different ways, which plays a significant role in brain evolution.
A study found that chronic stress, measured by allostatic load, was associated with a lower likelihood of completing chemotherapy and lower overall survival rate in patients with lymph node-positive or high-risk lymph node-negative HER2-negative breast cancer. Allostatic load may be a better predictor than genetic ancestry for chemothe...
Researchers have identified a shortened version of the human growth hormone receptor gene, GHRd3, which may help people survive in situations where resources are scarce or unpredictable. The study found that this variant emerged around 1-2 million years ago and was more prevalent in ancient humans and Neanderthals.
A recent study using genome-wide data from 82 ancient individuals in central and southern Italy has clarified the origins of the enigmatic Etruscans. The results show that despite their unique cultural expressions, the Etruscans were closely related to their Italic neighbors, with genetic transformations associated with historical events.
Researchers at WVU aim to characterize autism patients' behaviors using behavior-tracking technology. They plan to use artificial intelligence to identify traits associated with ASD, which could lead to more accurate diagnoses and personalized interventions. The study also has the potential to improve early detection in young children.
A large-scale study has identified thousands of genetic loci regulating blood gene expression, including cis and trans effects found in 88% of genes and 37% of trait-related variants. This research provides new insights into molecular relationships for various traits and diseases.
Caltech researchers have developed a technique to build embryo-like structures from human stem cells, opening up new possibilities for studying early human development. The technology can generate large quantities of these structures without the need for donated embryos.
Researchers analyzed 1,785 ancient human genomes to determine parental relatedness, revealing that cousin marriages occurred only 3% of the time. The new method allowed for more efficient screening of ancient DNA, also providing insights into population dynamics and demographic impact of agriculture.
Researchers at University of Illinois Chicago found a potential direct connection between neurodegenerative diseases, such as Alzheimer's disease, amyotrophic lateral sclerosis (ALS), glaucoma, and herpesvirus. The study suggests OPTN protein restricts HSV-1 virus spread in cells.
Researchers at UC San Diego will use $6.4 million in NIH funding to study the influence of external signals on insulin production in beta cells. They aim to create a roadmap of genetic variations that can predict changes in insulin output, which may help prevent and treat diabetes.
Researchers found that viral fossils in Australian marsupials are used to make non-coding RNAs that protect against outside infection. The study suggests that these viral fossils may be helping to immunize animals, potentially providing a mechanism similar to vaccination.
A new open-access repository aggregates and enhances FAQs by genomics researchers to explain their studies and debunk bias. The repository provides easily accessible information for various stakeholders, including policymakers, journalists, industry, and patient groups.
Researchers analyzed ancient DNA from victims of epidemics in Mexico and found evidence of newly introduced viruses, including smallpox, measles, and mumps. The study suggests that European colonists brought these viruses to North America, contributing to devastating epidemics among Indigenous communities.
Researchers from the University of Copenhagen have discovered a hormone in fruit flies that regulates human metabolism, potentially leading to new treatments for obesity and diabetes. The CAPA hormone plays a crucial role in maintaining energy balance, raising blood sugar levels, and regulating insulin secretion.
A Mount Sinai study found that polygenic risk scores were no better at predicting worsening symptoms than written reports in schizophrenia patients. The results raise questions about the use of polygenic risk scores in real-world situations, suggesting a doctor's report may be an untapped source of predictive information.
A UC Riverside-led study identifies how loss-of-function mutations in the gene PTPN2 affect intestinal epithelial cells' ability to maintain a barrier. The researchers found that increased fluid loss and diarrhea are linked to the mutation, which can be reversed by treating cells with synthetic matriptase.
A 7,000-year-old human skeleton from Sulawesi has provided new insights into ancient human relations. The genome analysis shows a connection to the first modern humans to reach Oceania and a mix of Denisovan and Asian genetic components.
Researchers found that UVB phototherapy increases levels of romantic passion and aggression in both men and women. Exposure to sunlight affects the endocrine system's regulation of sexual hormones.
A new study identifies at least three migratory events that shaped central European prehistory, revealing a more dynamic period than previously thought. Genetic profiles show evidence of recent migrations and novel insights into social processes, such as the expansion of Corded Ware culture and the assimilation of women.
A new study found that rare single-nucleotide variants in the MX1 gene increase human susceptibility to zoonotic H7N9 avian influenza infection. These genetic vulnerabilities may act as incubators for transmission of virulent new IAV subtypes, posing a risk for pandemic viruses.
A new study led by UCL researchers confirms that genetic inheritance has a significant impact on educational outcomes. However, the study also reveals that parent genes that aren't directly inherited can shape parents' education levels and subsequently influence their children's learning environment, affecting their academic success.
Researchers reconstructed genetic histories and social organization in two ancient Croatian sites, uncovering a diverse population with little biological kinship. The study found that individuals from different burial rites had similar genetic ancestry, but also identified endogamous mating practices and patrilocal social organization.
A team of researchers has identified a novel splicing mechanism for human short introns, involving the distinct factor SPF45. This discovery sheds light on alternative splicing and its potential applications in cancer treatment.
Researchers created the first detailed cell-by-cell description of how the coronal suture develops, identifying new genes and cell types involved in generating stem cells that grow skull bones. The study aims to advance new interventions for patients with craniosynostosis.
Researchers at St. Jude Children's Research Hospital have developed a more accurate laboratory model for studying retinoblastoma, a rare pediatric eye cancer. The models closely mimic the biology of patient tumors and provide an important resource for studying the earliest stages of the disease as well as screening new therapies.
A new study generated 137 whole-genome sequences from eight Middle Eastern populations, filling a major gap in international genomic projects. The researchers found 4.8 million previously undiscovered genetic variants, which could hold medical relevance.
A new study published in Genome Biology found that the ability of gut bacteria to produce spores is associated with their adaptation to humans. Bacteria that can produce spores have larger genomes and are less abundant in the gut, while those that cannot have smaller genomes and are more adapted to human hosts.
Scientists at the University of Copenhagen have discovered that exercise can alter the structure of our DNA, specifically the enhancers that regulate gene expression. This epigenetic rewiring may be responsible for the beneficial effects of physical activity on human health.
Researchers identified a novel lncRNA, Teshl, which plays a crucial role in the development of Y-bearing sperm and regulates sex chromosome gene expression. The study provides new insights into sex ratio variations and suggests that genetics may be a key factor in human male infertility.
Researchers analyzed Neandertal and Denisovan genomes to identify blood groups, confirming their African origin and Eurasian dispersal. The study also found evidence of low genetic diversity and possible demographic fragility, shedding light on the disappearance of Neandertals.
A study found no detection of COVID-19 vaccine-associated messenger RNA (mRNA) in breast milk samples from vaccinated mothers. Researchers analyzed 13 human milk samples and concluded that the mRNA was not detectable.
A comprehensive genetic study led by the University of Bonn has identified 45 new regions in the human genome associated with an increased risk of cleft lip and palate. These regions are linked to variations in DNA sequences that regulate gene activity, disrupting normal facial development.
Researchers at University at Buffalo have published a detailed protocol for generating mouse-human chimeric embryos, enabling more accurate models of human development and disease. The method has the potential to revolutionize biomedical research and potentially lead to the generation of human organs for transplantation.
Scientists from the Netherlands Institute for Neuroscience found that mice have a region called 'focea' with improved visual sensitivity, similar to the fovea in human retinas. This discovery suggests that mice may be better models for studying human vision than previously thought.
Researchers have developed a method to control the degradation of messenger RNA, which could lead to more efficient biotechnological functions and improved medical outcomes. This breakthrough has potential applications in vaccine development, genome engineering, and therapeutic treatments.
A UCLA-led study comparing human and mouse astrocytes found that mouse cells are more resilient to oxidative stress, a key mechanism behind many neurological disorders. The findings have important implications for basic and translational research into conditions like Alzheimer's disease, Parkinson's disease, and amyotrophic lateral scl...
Researchers discover a previously unknown population of archaic hominin in Israel, exhibiting unique features between Neanderthals and modern humans. The findings suggest close cultural interactions and genetic admixture between different human lineages before 120,000 years ago.
This study highlights PGC1α's role in maintaining vascular smooth muscle cells' contractile phenotype and reducing atherosclerotic plaque formation. Overexpression of PGC1α attenuates high cholesterol diet-induced atherosclerosis in rabbits, showing its therapeutic potential for cardiovascular diseases.
A joint research team led by Prof. FU Qiaomei has sequenced the ancient genomes of 31 individuals from southern East Asia, unveiling a missing piece of human prehistory. The study reveals three genetically distinct ancestries in southern East Asia and Southeast Asia: Fujian ancestry, Hòabìnhian ancestry, and Guangxi ancestry.
A new study by NYU Langone Health researchers discovered a molecular mechanism hijacked by SARS-CoV-2 that makes it vulnerable to drug candidates. The study showed that coronavirus reproduction requires chemical changes made by the human protein METTL3, which can be inhibited by the compound STM2457.
A study of 18 bat species in Switzerland revealed 39 different viral families, with 16 infecting vertebrates and potentially posing a risk to humans. A near-complete genome of an MERS-CoV-related virus was also identified, highlighting the need for continued monitoring of viruses carried by bats.