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 gene defect among people of Inuit ancestry has been discovered, putting children at risk of dying from child vaccines or simple viral infections. The defect is found in 1 out of 1500 Inuits and can be screened for using heel prick blood test samples.
Research suggests that EMFs can cause Alzheimer's disease by building up calcium levels in brain cells. This increase leads to changes in the brain, which develop conditions for Alzheimer's. The study highlights the importance of reducing EMF exposure to prevent or delay the onset of Alzheimer's.
A recent study on the Maniq population found they exhibit high levels of genetic differentiation, similar to other isolated populations. The researchers also discovered that the Maniq retain a unique hunter-gatherer lifestyle and Hòabìnhian-related ancestry, setting them apart from other Southeast Asian groups.
The article highlights the need to move beyond continental ancestry categories in research and medicine, as they can perpetuate medical stereotypes and exacerbate health disparities. Instead, researchers are adopting a multidimensional approach to genetic ancestry, one that reflects continuous variation and historical depth.
A new study by an international team of scientists links early human habitats to past climate shifts using a supercomputer model and fossil records. The research suggests that climate change played a central role in determining where different hominin groups lived and their remains were found.
Researchers analyzed genomic profiles of over one million cells from 1,000 people, identifying a link between specific genes and immune cell types in autoimmune diseases. The discovery could lead to tailored treatments and refine clinical trials.
A new technique called Operational Genomic Units (OGU) allows for improved resolution and simplicity in analyzing microbiome samples. By using individual genomes as basic units, researchers can pinpoint biologically relevant characteristics such as age and sex with greater accuracy.
A new study by Princeton University researchers reveals that macrophages, a type of immune cell, are crucial in the early immune response to SARS-CoV-2. The study used humanized mice with human lung tissue and blood stem cells to investigate the role of macrophages and identified specific genes associated with an effective antiviral re...
A multidisciplinary team analyzed ancient DNA from the Carpathian Basin to reveal clues about the Avars' origins. The research found that the Avar elites had ancestry from Northeast Asia and the North Caucasus, suggesting a rapid trans-Eurasian migration
The T2T consortium's completed human genome has shown significant improvements in DNA sequencing accuracy, correcting tens of thousands of errors and revealing millions of genetic variations. This new reference genome can support the analysis of over 200 genes of medical relevance, potentially propelling research into genetic disorders.
Ancient genomes from 39 archaeological sites indicate that Xinjiang was settled by people with central and eastern Eurasian Steppe ancestry during the Bronze Age. The region received an influx of East and Central Asian ancestry later, resulting in genetically mixed populations throughout the Iron Age.
Researchers fill in gaps in Human Reference Genome, discovering repetitive sections are a major source of human variation and genetic diversity. The Telomere-2-Telomere project reveals complex architectural features with significant consequences for understanding human evolution and biological function.
A self-contained experiment is being sent to the International Space Station to investigate stress and DNA damage caused by space travel. The goal is to determine if genomic damage experienced during space travel is linked to the silencing of a specific gene, beta-arrestin1.
A report by the British Pharmacological Society and Royal College of Physicians recommends integrating pharmacogenomic testing to ensure medicines work safely and effectively for individual patients. The UK is a world leader in genomic medicine, and expanded testing would further demonstrate this leadership.
A new Brazilian database of whole-genome sequences brings diverse genetic information to international databases, shedding light on the genetics of aging and disease in Brazil's elderly population. The study identified over 2 million novel genetic variants, providing insights into the health and well-being of older adults.
A recent study found that genetic changes in dogs' brain tissues are primarily about the number of genes affected rather than their function. The researchers discovered that approximately 3,500 genes were differentially expressed between young and old dogs, with most genes showing reduced activity in older animals.
Researchers found that at least 17.7% of regulatory regions contain more than one causal variant, suggesting a weaker effect of individual variants on human traits. The study's findings challenge the long-held assumption of a single causal genetic variant underlying complex phenotypes.
Researchers discovered that an inorganic polyphosphate released by nerve cells contributes to the death of motor neurons in people with ALS and frontotemporal dementia. The study found that lowering levels of this toxin may be an innovative therapeutic strategy for diverse types of ALS/FTD.
A new protein called NDF has been discovered to enhance gene activation and may be involved in diseases like cancer. Found in all human tissues, NDF works by stimulating RNA polymerase elongation, a key step in gene expression.
The placenta plays an active role in transferring vitamin D to the fetus during pregnancy, according to a new study. The research found that the placenta takes up vitamin D through endocytosis, which enables it to deliver this essential nutrient to the developing fetus.
A new Michigan Medicine study suggests that genes from oceanic bacteria have entered the human gut microbiome, enabling digestion of seaweed polysaccharides. The research found that these genes are more common than previously recognized and are linked to the ability to process certain seaweed-derived sugars.
Researchers have discovered that bioprosthetic heart valve patients develop an immune response against foreign sugars in the valves, leading to calcification and deterioration. By genetically engineering these sugars out of the valves, durability can be increased, offering a potential solution for patients.
A recent study by La Jolla Institute for Immunology researchers has identified new subsets of CD4+ 'helper' T cells that are linked to autoimmune disease risk. The team used single-cell RNA sequencing to compare gene expression in over 1 million CD4+ T cells from 89 healthy donors, revealing sex-based differences in immune cell functio...
Researchers created largest human genealogy by combining thousands of modern and ancient genomes across various datasets. This unified genealogy offers insight into key events in human history, including the timing and geographical locations of migration events like the out-of-Africa migration.
A study by Arizona State University shows that certain proteins can act as efficient electrical conductors, outperforming DNA-based nanowires in conductance. The protein nanowires display better performance over long distances, enabling potential applications for medical sensing and diagnostics.
A COVID-19 genetic risk variant inherited from Neandertals reduces the risk of contracting HIV by 27%. This variant is associated with fewer CCR5 receptors, which can lower the risk of HIV infection.
Researchers used identical twins to exclude genetic influences and track immune system changes responsible for triggering multiple sclerosis. The study found that an error in the communication of immune cells leads to greater activation of T cells, causing damage in the central nervous system.
A recent study by KU Leuven and The Francis Crick Institute analyzed 2,658 tumor samples and found that 21% exhibited double mutations in both maternal and paternal DNA copies. This discovery sheds new light on the origin of mutations and their role in cancer development.
A new study finds that certain COVID-19 variants can escape the human immune system's cytotoxic T cell response in a significant portion of the population. The researchers identified 1,222 epitopes associated with major HLA subtypes, covering about 90% of the human population.
A new study finds that immune cells clear away a key Alzheimer's disease protein on an oscillating daily cycle controlled by circadian rhythms. The discovery provides a potential mechanism linking Alzheimer's disease to disruptions in sleep cycles and may lead to the development of chronotherapeutics.
A comprehensive study has revealed over 7,000 human transcription factor (TF) protein-protein interactions, with most playing important roles in transcriptional regulation. The study identifies groups of TFs with specific biological functions, such as chromatin remodelling and RNA splicing.
An international research team reconstructed the genome of Steller's sea cow from fossil remains, finding inactivations of genes responsible for its unique skin structure. The study reveals a dramatic reduction in population size contributing to the species' extinction.
Research from the University of Georgia reveals that compounds used to fight fungal diseases in plants are causing resistance to antifungal medications used to treat people. The study found 12 strains of Aspergillus fumigatus resistant to both agricultural and clinical azole fungicides, suggesting a link between environmental and human...
A recent study has identified 29 new genetic variants associated with acne, providing potential new targets for treatment and helping clinicians identify individuals at high risk of severe disease. The research, involving over 20,000 individuals with acne, also found a link between genetic risk and disease severity.
A new DNA benchmark, developed by NIST and collaborators, enables more accurate detection of genetic variants linked to diseases such as spinal muscular atrophy. The benchmark, based on HiFi sequencing technology, helps labs and clinics sequence genes with high accuracy, critical for disease diagnosis and treatment.
Scientists from Japan and USA develop a microfluidic device for purification of tuberculosis genomic DNA fragments, enabling accurate diagnosis of diseases. The device uses transient ITP and electrokinetic trapping to detect and purify small cfDNA fragments.
A study found that humans have evolved less sensitive noses compared to other primates, with genetic variations affecting scent perception. Researchers screened the genomes of over 1,000 Han Chinese people and an ethnically diverse population to identify novel genetic variants associated with odor detection.
A groundbreaking genome-wide association study identified 123 genetic regions linked to migraine risk, including two specific genes targeted by recently developed drugs. The study provides insight into the biological basis of migraine and its subtypes, paving the way for new treatments.
Researchers developed a method called 6mASCOPE that measures DNA tagging system accuracy and distinguishes bacterial from human DNA. The study found high levels of methylation in plant, fly, mouse, and human cells, but mostly attributed to contamination.
Dr. John Pierce Wise leads a team to investigate chromosome instability in lungs caused by metal exposure, with hopes of preventing and reversing lung cancer in people. The research aims to understand why humans are more susceptible to metals-induced lung cancer than whales.
A new study published in Genome Research has identified a group of genes that play a crucial role in building cellular components and may contribute to human longevity. Inhibiting these genes may increase lifespan by reducing their impact on the body later in life.
Scientists have developed a novel CRISPR-Cas3 editor from the bacteria Neisseria lactamica that improves editing efficiency and is more easily produced. The tool enables 50% editing efficiency in stem cells and 95% efficiency in other human cell lines, paving the way for research in genetic diseases and developmental biology.
Researchers found that a third of patients with wet age-related macular degeneration can safely stop eye injection therapy without further vision loss. Patients who stopped treatment showed better visual acuity, gain of vision, and less fluid in their retina compared to those requiring continued injections.
Researchers found that alterations in the RNF43 and ZNRF3 genes lead to an accumulation of lipids and inflammation in the liver, increasing the risk of developing non-alcoholic steatohepatitis (NASH) and fatty liver disease. These genetic changes also affect liver cell proliferation, contributing to the progression of liver diseases.
A molecule of RNA called CARMN has been found to play a crucial role in maintaining healthy smooth muscle cells in the blood vessel wall, which can help prevent atherosclerosis and angioplasty-induced restenosis. Restoring healthy CARMN levels may lead to new approaches for treating heart disease.
Scientists have developed a new technique to extract DNA from the 'cement' head lice that attached eggs to hairs of ancient humans. This method reveals clues about pre-Columbian human migration patterns in South America, allowing for the study of unique samples from mummified remains where bone and tooth samples are unavailable.
A genetic variation among some Greenlanders makes sugar healthy by converting it into a short-chain fatty acid called acetate, which boosts the immune system. Adult carriers have lower BMI, weight, and fat percentage, while children may experience negative consequences from consuming sugar.
The study developed a new strategy to sequence thousands of bacterial isolates with collaborators from economically-challenged countries, aiming to make genomic data more accessible. The 10,000 Salmonella genomes research consortium sequenced and analysed 10,000 Salmonella genomes from Africa and Latin America, strengthening global res...
Researchers grew 'mini-brains' from stem cells of patients with and without schizophrenia, finding reduced gene expression in patient samples that stymied brain cell development. Replacing the missing genes restored normal brain cell production, suggesting a potential target for therapy.
Researchers have introduced a new tool, Giraffe, that can efficiently map new genome sequences to a 'pangenome' representing many diverse human genome sequences. This approach allows for a more comprehensive characterization of genetic variations and reduces mapping bias.
Researchers have identified a key protein in the brain that regulates habituation, a mechanism essential for focus and attention. The study found that a decrease in this protein leads to hypersensitivity and symptoms similar to those seen in Autism Spectrum Disorder.
Researchers identified the CIROP gene, crucial for establishing proper left-right asymmetry during embryonic development, which is linked to congenital heart defects and misplacement of internal organs. The study provides insights into the development of left-right patterning and has implications for research on potential therapies.
The study found that exercise induces expression of long noncoding RNA CYTOR, which enhances myogenic differentiation and improves muscle morphology and function in aged muscles. CYTOR also re-configures chromatin accessibility at binding sites of other genes, shedding light on its mechanisms.
Humans developed natural genetic resistance to anthrax by having a diet of more ruminants and experiencing agricultural practices, leading to fewer anthrax receptors. European populations showed an even greater reduction in anthrax receptor expression compared to other human populations.
Researchers have identified a genetic variant in the B4GALT1 gene that may confer protective effects against cardiovascular disease, characterized by lower LDL-C levels and decreased fibrinogen. The discovery could inform novel therapeutic approaches to decreasing or preventing CVD.
Researchers compared genetic expression profiles of canine acanthomatous ameloblastoma and human oral tumor ameloblastoma, finding similarities in molecular mutations. The study lays groundwork for potential translational medicine, as the dog model may represent a useful clinical model of the disease.
A new computational tool allows precise prediction of protein interfaces for COVID-19 and human interactions. This breakthrough enables researchers to better understand virus development, identify high-risk populations, and develop targeted drugs.
A team of international researchers has developed a globally-applicable ethical code for ancient human DNA research, aiming to address social and cultural implications. The code proposes cooperation with stakeholders, minimal damage to human remains, and respect for indigenous communities' perspectives.
A new study found that genetic ancestry shapes the immune response to the influenza virus, with increased European ancestry associated with a stronger type I IFN response. This finding has potential clinical implications for understanding COVID-19 susceptibility and disease progression.
New research reveals how genetic variations impact COVID-19 case severity, focusing on non-classical monocytes and their role in the immune response. The study identifies potential targets for therapies to boost immune cell function and improve disease outcomes.