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.
Researchers at MIT have created sensors, memory switches, and circuits that can be encoded in the common human gut bacterium Bacteroides thetaiotaomicron. These basic computing elements will allow the bacteria to sense, memorize, and respond to signals in the gut.
A new checkpoint enzyme, Plk1, has been discovered to play a crucial role in monitoring chromosome segregation during cell division. This finding may provide important clues for the development of new cancer treatments.
A team of researchers has discovered a link between acute liver failure and mutations in the NBAS gene, which affects cellular transport processes. The study found that these mutations can disrupt protein packing and transport within cells, leading to metabolic imbalances in the liver.
A team of scientists studied the genetic basis of human olfaction and reconstructed the sensory world of our distant ancestors. They found that different populations have varying abilities to detect specific smells, with some populations being more sensitive than others.
Researchers found that up to 20% of a mosquito population's genome is subject to evolutionary pressures, leading to local adaptation and potential resistance to pesticides. The study provides insights into the contemporary evolution of mosquitoes and informs strategies to control populations.
Researchers analyzed DNA from a 40,000-year-old jawbone from Romania and found that six to nine percent of the person's genome came from Neandertals. This shows that some of the first modern humans in Europe mixed with local Neandertals around this time.
Researchers at UT Austin found a surprising link between cross-shaped DNA structures and human cancer, with small cruciforms enabling mutations that increase cancer risk. High-performance computing helped identify hotspots of genetic instability in cancer genomes.
A survey of 34 couples found that those with siblings from the same donor preferred to use the same donor for subsequent conceptions due to a desire for genetic bonds and improved sibling relations. However, some couples prioritized the genetic link between mother and child over full sibling relationships.
Researchers have identified a gene, PRDM8, linked to early loss of night vision in animal models. Gene therapy for Leber's congenital amaurosis shows promising results, but temporary improvements are seen.
A new study reveals that clinical and genetic factors affecting warfarin dose vary by race, highlighting the need for race-specific dosing equations to improve anticoagulation control. The research team found that gene variants may have different effects on dose across racial groups, particularly among African Americans.
Scientists have identified a gene variant in wild chimpanzees that encodes an HIV-fighting protein, suggesting that hominids have been fighting off HIV-like viruses for at least five million years. The discovery could yield insights into biological and pharmaceutical applications to enhance HIV-infected people's survival.
The study, published in the American Journal of Human Genetics, used 225 human genome sequences from Egyptians and Ethiopians to determine the most likely route of human migration out of Africa. The research found that Egypt was the primary gateway for humans migrating north, supporting a northern route rather than a southern one.
Researchers found four essential genes that were lost from the human Y chromosome but relocated to other chromosomes, including one gene crucial for sperm production. These findings suggest a complex role of sex chromosomes in genetic function and may contribute to male infertility.
A new population genetics model reveals a previously unknown bottleneck in the Finnish population between 10,000 to 20,000 years ago. This event likely reduced the population size significantly and resulted in fewer genetic differences among its offspring.
New research from Griffith University uncovers significant genetic changes in receptors associated with immunological and cellular function, potentially shedding light on CFS/ME. The findings contribute to a deeper understanding of the complex illness's pathology.
UTHealth researchers have sequenced exomes of 8,554 individuals to identify naturally occurring mutations that inactivate certain genes. The study found eight new relationships between genes and diseases, including a link between TXNDC5 and Type 1 Diabetes progression.
A recent study has identified a correlation between human head size, pelvis shape and childbirth difficulties. The research found that women with larger heads tend to have shorter birth canals, which may ease the obstetric dilemma.
Researchers at Ghent University discovered that sweet potatoes contain genes from the bacterium Agrobacterium, which were likely introduced through horizontal gene transfer. The findings suggest that genetic modification also occurs in nature, and could have implications for our understanding of plant evolution.
A study of 647,457 patients on chronic dialysis found that genetically related family members have a 70% increased risk of cardiac arrest compared to unrelated patients. This increased risk is attributed to inherited genetic factors, which may contribute to the high mortality rate among dialysis patients.
MGN1703 is a single-stranded oligonucleotide-based drug that activates the human immune system without causing harmful side effects. It works by binding to toll-like receptor 9, triggering a cascade of signaling pathways that enable recognition and destruction of foreign cells.
Dwarf lemurs' ability to put their bodies in standby mode, known as torpor, correlates with increased longevity. Hibernating lemurs live up to ten years longer than non-hibernators, staying healthier and reproducing for a longer period.
Researchers at the University of Illinois discovered that the hermaphrodite version of the papaya plant, essential for commercial fruit production, arose from human selection by the ancient Maya around 4,000 years ago. This genetic study could lead to the development of a new, more efficient papaya variety.
A new study by Karolinska Institutet researchers found that the language used to switch genes on and off has remained conserved across millions of years of evolution. The differences between species reside in the content and length of these instructions, with specific transcription factors recognizing unique DNA words.
Research published in Genome Biology found that humans and other animals have acquired 'foreign' genes from microorganisms, suggesting ongoing gene transfer. The study identified 17 previously-reported genes and 128 additional foreign genes in the human genome, related to metabolism, immune responses, and more.
A new method called TFUMseq enables researchers to study the functions of hard-to-grow bacteria that contribute to the gut microbiome. The tool allows for the identification of genes that enhance microbial fitness and provides insights into how bacteria colonize living organisms.
A McGill University team has identified a mechanism by which environmental factors influence the expression of genes controlling complex traits. By manipulating DNA methylation levels, researchers were able to create variation in worker ant sizes, shedding light on the interplay between genetics and environment in shaping these traits.
Scientists have made a breakthrough in treating patients with sickle cell disease by engineering custom blood cells that can evade the immune system. Lab-grown stem cells were reprogrammed and edited using CRISPR to replace the defective gene, resulting in healthy red blood cells that function just as well as those from unaffected donors.
Researchers have assembled a comprehensive map of the human epigenome, detailing epigenetic markers in 111 cell types and tissues. This resource will aid in understanding the molecular basis of disease and lead to new treatments.
Researchers found that segments of human genome with low recombination rate carry a higher proportion of disease-enabling genetic mutations, which are eventually shuffled off through sexual reproduction. This discovery can help scientists identify and develop effective treatments for diseases.
Researchers discovered that the immune system can turn off cellular enzymes needed by the Influenza A virus, which could lead to new treatments for flu. The study found that PAI-1 protein plays a key role in this process, and its inhibitors may be used to combat viral infections.
Research found that humans have fewer endogenous retroviruses than other animals, likely due to reduced blood contact. This decrease could be attributed to human evolution using tools instead of biting during conflicts.
A new study by the University of Sheffield found that genetic differences between humans continue to fuel evolution, despite artificial influences like easy access to contraception and medical advances. The research showed that genetic influence on timing of reproduction and family size tends to be higher in recent times.
Researchers at USC discovered a compound that extends the life span of female fruit flies by 68%, challenging existing methods used to study genetic causes of aging. The finding opens up new avenues for investigating longevity and identifies potential candidate genes and mechanisms.
A new study found that humans carry fewer endogenous retroviruses in their genomes compared to other mammals. This decrease may be attributed to a less bloody evolutionary history, with reduced exposure to blood-borne viruses as humans transitioned from biting during conflicts and hunting.
A fossil skull discovered in Israel's Manot Cave provides strong evidence of the first modern human migration to Europe, dating back 55,000 years. The analysis reveals a close genetic relationship between ancient Europeans and modern humans from Africa, challenging previous theories about the origins of European modern humans.
WSU researchers found a direct link between BPA and estradiol's effects on sperm production, disrupting DNA interactions needed for creation. This discovery bolsters the estrogen hypothesis and suggests that endocrine disruptors like BPA impair reproduction.
A new computational method can identify positions in the human genome that play a role in cell function, revealing insights into genetic regulation and potential applications in personalized medicine. The study found that 4.2 to 7.5 percent of nucleotides in the human genome have influenced fitness since humans diverged from chimpanzees.
Researchers have created DNA-coated nanoparticles that can hold together 3D-printed materials, forming gel-like substances suitable for human cell growth. This breakthrough could lead to the development of scaffolds for growing tissues and organs.
A recent study by Ria Ghai has identified three genetically distinct groups of whipworms, with only one being transmissible between humans and non-human primates. This discovery has significant public health implications and highlights the need for conservation efforts to protect endangered species.
Resistin, an immune protein found in human serum, instigates an inappropriate inflammatory response to worm infections, impairing clearance. Targeting this pathway with drugs or antibodies could lead to new therapeutic strategies for worm infections and associated pathology.
Researchers have discovered new genetic and epigenetic factors that contribute to diabetes, suggesting a shared pathway between genes and environment. The study found similar epigenetic changes in fat cells of obese mice and humans, highlighting the consilience of genetics and environment.
Researchers found that swamp sparrows can perceive sound categories in context, a skill shared with humans. This ability may be crucial for understanding how human language arose.
Researchers have completed a detailed picture of human color vision evolution, tracing 7 genetic mutations and 5,040 pathways from UV to blue-light vision. The study clarifies molecular pathways at the chemical, genetic, and functional levels.
A study revealed that malaria parasites change surface proteins every 48 hours to hide from the immune system, creating millions of new variants. This rapid evolution makes it difficult to develop an effective vaccine against the disease.
Researchers have discovered a mutation in ferrets that shares similarities with humans, potentially leading to improved therapies for influenza and other diseases. This finding opens up a novel approach to tackling human diseases.
Researchers analyzed 5,040 evolutionary paths of human color vision, finding that 4,008 trajectories are terminated prematurely due to nonfunctional pigments. The study's findings emphasize the importance of understanding molecular evolution and genetic engineering in decoding protein mutations' effects.
A DNA study from Duke University sheds light on the extinction of giant lemurs, finding that their smaller population sizes made them more susceptible to extinction. The research suggests that lessons learned from ancient DNA can be useful in protecting remaining species.
A team of researchers from the University of Southern Denmark has successfully reprogrammed white adipose tissue cells to become 'brite' (brown-in-white) fat cells, increasing energy consumption and potentially treating obesity. The study identified KLF11 as a key gene required for this process, paving the way for future treatments.
Researchers analyzed Darwin Award winners and found that 88.7% were male, supporting the idea that men are more prone to 'idiotic risk taking behaviour'. The study suggests males may engage in such risky actions as a rite of passage or for social esteem
Researchers have discovered that birds and humans share the same genes to produce speech, with similar brain circuitry involved in singing behavior. The study, led by Duke neuroscientist Erich Jarvis, reveals that vocal learning evolved twice or three times among songbirds, parrots, and hummingbirds.
A small group of hunter-gatherers in Southern Africa remained isolated and distinct from other African ethnicities for most of the past 150,000 years. Their genetic history reveals limited gene flow with non-Khoisan populations.
Scientists have developed protective human antibodies using DNA-vaccinated cows, which showed potent neutralizing activity against two types of hantaviruses. The antibodies protected hamsters from lethal disease caused by these viruses, with seven out of eight treated animals surviving without symptoms.
Researchers discovered sustained human habitation and farming between 2,500-3,400 meters above sea level 3,600 years ago on the Tibetan Plateau. This finding challenges previous understanding of human adaptation to high altitudes.
A team of international researchers has detailed the functional parts of the mouse genome and compared them with those in humans, finding that certain processes are preserved through time. The study reveals new insights into mammalian biology and human illness mechanisms.
An international team of researchers identified approximately 6600 genes whose expression levels vary within a restricted range in both mice and humans. These genes, which represent about one-third of active genes across tissues in both species, reflect evolution's constraint on their expression to maintain cellular housekeeping.
A comprehensive study of the mouse genome has discovered striking similarities and differences with the human genome, shedding light on gene regulation and its impact on human biology. The findings may lead to better use of mouse models in medical research.
Researchers have discovered that a significant number of mouse genes do not behave like their human counterparts, suggesting that science will need to rethink the role of the lab mouse. The findings come from the ongoing mouse ENCODE project and indicate that similar genes in humans and mice are expressed in different ways.
The study, Mouse ENCODE, compared mouse and human genome regulatory elements to understand similarities and differences in gene control. Researchers found that the general principles of gene regulation are similar but with distinct details between species.
Researchers found that disclosing genetic risk information led to increased perceived personal control and counseling satisfaction among patients. Patients who received genetic risk information also reported adopting healthier behaviors to reduce coronary heart disease risk.
A new gene has been identified as the genetic cause of a progressive form of epilepsy in nearly one-third of patients. The mutation affects a potassium channel encoding gene KCNC1, which disrupts signal transmission in the brain and causes epileptic seizures and myoclonus.