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 genetic defect in the FoxP2 gene, commonly associated with human speech problems, disrupts the ability of songbirds to sing effective courtship tunes. Researchers found that the defect impairs a network of nerve cells, leading to stuttering and stammering in affected individuals.
A new study published in Human Genetics found that 180 DNA variants predict tall stature in Europeans with an accuracy of 0.75.
Researchers identified a novel avian-origin H6N1 virus that closely resembles chicken H6N1 viruses circulating in Taiwan since 1972. The virus has a mutation that could increase its preference for human SAα-2,6 receptors, making it more infectious to humans.
A recent study by Gladstone researchers reveals that specific stretches of DNA, called human accelerated regions (HARs), control the development of uniquely human characteristics. HARs were found to be crucial in human ancestors becoming distinct from our closest primate relatives.
A new study reveals that edited RNA and invasive DNA contribute to individual variation in humans by regulating gene expression. The study found a 20% difference in life span and eye color between individuals with varying levels of ADAR activity.
A UCSF scientist suggests that complex gene expression mechanisms in humans may have evolved to counter viral infections, rather than for overall organism development. This idea challenges conventional wisdom about the evolution of eukaryotic cells.
Research shows that chronic stress alters gene expression in immune cells, making them pro-inflammatory and prone to excessive inflammation. This can lead to various health issues, including cardiovascular diseases, diabetes, and obesity.
Researchers at the Weizmann Institute of Science have successfully created induced pluripotent stem cells (iPS cells) that can be kept in a pristine state, paving the way for growing transplant organs to order. The breakthrough enables the production of 'humanized' mouse models containing human-derived tissues.
Researchers used gene sequencing to map bacterial communities on two human cadavers, finding differences and changes over the decomposition process. The study suggests specific patterns in bacterial communities as a corpse decomposes.
A recent study identifies a genetic root to childhood obesity, revealing that patients with mutations in the KSR2 gene have an increased appetite and slower metabolism. The findings suggest that drugs like metformin could provide new treatment options for obesity and type-2 diabetes.
Researchers at Berkeley Lab identified thousands of enhancer sequences involved in craniofacial development, which regulate genes to fine-tune facial morphology. The study provides insights into the genetic drivers of normal craniofacial variation and may lead to better diagnostic and therapeutic approaches for birth defects.
Scientists identify correlation between genetic variation and microbiome composition, suggesting role of host immunity in bacteria levels across the body. The study highlights the complex interaction between human genetics and the microbiome, with potential implications for disease susceptibility.
A study of herpes simplex virus type 1 confirms the 'out-of-Africa' pattern of human migration, with African isolates clustering together and Asian viruses grouping based on sequencing of human genomes. The findings support existing analyses of human migration and provide insights into how organisms are related.
Researchers suggest that Denisovans, an ancient human relative, successfully crossed Wallace's Line, a powerful marine current, to interbreed with modern humans. This finding opens up questions about the behaviors and capabilities of this group and how far they could have spread.
A new method developed by researchers at the University of Zurich allows them to display viral DNA in host cells at single-molecule resolution, revealing unexpected insights into its distribution and cell response. The technique uses click chemistry to label viral DNA without affecting its biological functions, enabling scientists to s...
A recent molecular biology study suggests a significant reduction in population sizes of common ancestors of humans and chimpanzees, from 1.2 million to 30,000, coinciding with a great ape ancestral migration event from Eurasia to Africa.
Human skin stem cells have been found to possess a natural internal clock, which helps them regulate functions such as UV protection in response to circadian changes. This finding could lead to new strategies for preventing premature aging and cancer.
A new study by University of British Columbia researcher finds that some people are genetically predisposed to see the world darkly due to a previously known gene variant. The ADRA2b deletion variant influences norepinephrine levels, affecting real-time perception and emotional memory formation.
Scientists have developed a new method to visualize gene activity in single cells, revealing strong variability in gene expression and spatial organization between cells. The method allows for the parallel measurement of gene activity and transcript molecules in thousands of single cells, providing novel insights into cell behavior.
The study identifies syndecan-1 as the human cell receptor used by baculovirus to enter cells, shedding light on the mechanisms of infection and facilitating gene therapy development. This breakthrough discovery increases our understanding of baculovirus interactions with human cells.
Researchers from the University of Sheffield and Mario Negri Institute in Italy investigated two mouse models of MND, identifying key differences in gene expression that may help predict disease duration. The study provides new insights into mechanisms that slow down disease progression.
Research shows that genetic factors and dietary choices interact to shape the microbiome in the host intestine. This combination determines the presence and activity of specific microbes, which can affect digestive health and increase the risk for conditions like Crohn's disease.
Researchers at NIST and Applied Research Associates developed a microfluidic technique to recover DNA from complex mixtures like dirt. This method delivers optimal DNA concentrations for human identification procedures, potentially miniaturized for use outside the laboratory.
The EMBO Meeting 2013 conference will feature keynote lectures by prominent scientists, including Kai Simons, Hans Clevers, Sir Michael Stratton, Peter Hegemann, and Georg Nagel. The scientific programme will include sessions on stem cells, cancer genomics, optogenetics, and the search for life beyond Earth.
Mycobacterium tuberculosis originated in Africa at least 70,000 years ago. The bacteria have a strikingly close genetic match with humans, suggesting a long history of co-evolution. This has led to the development of new strategies for disease control and may help predict future patterns of the disease.
A new study finds Arrhythmogenic Right Ventricular Cardiomyopathy, a human heart disease, in chimpanzees. The condition was detected in two half-brother chimps who died suddenly during physical exertion at a UK zoo.
A team of geneticists identified five different alleles in the Ethiopian population that cause adult lactase production, highlighting a soft selective sweep. This phenomenon allows individuals to digest milk via different mutations, increasing their chances of survival under scarce food conditions.
Researchers have made a breakthrough in genome editing technology, enabling precise control over genetic changes in fruit flies. The CRISPR RNA/Cas9 system allows for targeted mutations and gene expression manipulation, opening up new possibilities for studying human diseases and developing gene therapies.
Researchers at Whitehead Institute created mouse models of two neurodegenerative diseases that are fatal in humans. The highly accurate reproduction of disease pathology seen with these models should advance the study of prion diseases, including Creutzfeldt-Jakob disease and fatal familial insomnia.
Scientists sequenced entire genomes of high-altitude individuals and found 11 regions with significant differences between those with chronic mountain sickness and healthy controls. The study identified two genes, SENP1 and ANP32D, which were expressed more in individuals with the condition in response to low oxygen levels.
San Diego State University researcher Sandy Bernstein receives $3.5m NIH grant to model human muscle diseases in fruit flies. His team uses genetically altered flies with engineered myosin protein mutations to better understand the effects on human health.
A study found that MRSA strains in humans originated from cattle, with a 40-year timeline for the emergence of resistance to methicillin. The bacteria's genetic analysis revealed that bovine strains were closer to the root of the phylogenetic tree, indicating a common ancestor.
A recent genetic study has uncovered a significant demographic shift in India's population, occurring approximately 1,900-4,200 years ago. This mixture of ancestral populations has left its mark on nearly every group in India, influencing the present-day caste system and increasing the incidence of genetic diseases.
HSCI researchers mapped nearly all cytosine-guanine pairs in human DNA and found that only a small fraction are dynamic, playing a key role in regulating gene expression. The study improves current approaches to mapping epigenetic marks and sheds light on how genes are controlled in different cell types.
A new study using Y chromosome DNA sequencing sheds light on human ancestry by tracing the male lineage back to a common ancestor between 120,000 and 156,000 years ago. This timeframe agrees with previous findings on the female most recent common ancestor, providing significant insights into human history and migration patterns.
Researchers at Michigan State University have discovered that genetic mutations interact with an individual's genome background about 75% of the time, affecting disease outcomes. This finding has significant implications for understanding and treating diseases with a simple genetic basis, such as breast cancer.
A recent study found that male Holocaust survivors lived an average of 14 months longer than non-survivors, with a significant difference in life-expectancy among men aged 10-20 during the war. The researchers suggest that the 'Posttraumatic Growth' phenomenon may have contributed to their longevity.
A study published in PNAS reveals that the human herpes virus uses histone proteins to package and store its genetic material, allowing it to remain dormant. Researchers identified a viral protein called IE1 as a potential target for new therapies to control the virus's activity.
Research suggests that inherited Human Herpesvirus 6 may be a root cause of CFS, causing cognitive dysfunction and fatigue. Antiviral drug therapy improves severe neurological symptoms in affected patients.
Scientists have discovered that a pressure-driven infection mechanism used by the herpes simplex virus 1 causes it to inject its genetic material into human cells. This technique could be targeted for future treatments to defeat HSV-1 and other viruses, potentially limiting drug resistance.
A new small animal model of the human norovirus has been developed, allowing researchers to study the virus and develop potential antiviral treatments. The model was created by infecting 'humanized' mice with the virus and identified macrophages as the cell type infected by the virus.
A new study has found a link between high levels of arsenic in rice and elevated genetic damage in humans. Researchers discovered that people consuming rice with more than 0.2 mg/kg arsenic showed higher frequencies of micronuclei, a sign of chromosomal damage.
U of M researchers identified infection-fighting and inflammation-suppressing functions for the PTPN22 gene, which could impact treatment strategies for autoimmune diseases. The study found that a variant of PTPN22 impacts immune system function in health and disease.
Researchers at Boston Children's Hospital identified a genetic cause of severe obesity in mice with the Mrap2 gene mutation, which also affects humans. The study found that these individuals gained weight even on a controlled diet, highlighting a new understanding of metabolism and energy regulation.
Researchers evaluated past H7 subtype influenza viruses among mammals and birds, comparing them to other avian influenza viruses. While none have caused a human pandemic since 1918, some adapted to infect horses, raising concerns about potential adaptation to humans.
Researchers at University of Chicago Medical Center discovered a new layer of complexity in human gene expression, finding a single gene that encodes two separate proteins from the same mRNA sequence. This discovery could lead to a therapy for spinocerebellar ataxia type-6 (SCA6), a neurodegenerative disease.
Research reveals FAM190A's subtle but crucial role in mitosis, a process commonly disrupted in cancer. Mutations in the gene may contribute to chromosomal instability and cancer development.
A new UCSF study has identified thousands of previously unknown RNA molecules outside genes that are more likely associated with inherited disease risks. The research highlights the potential importance of non-gene DNA regions in human biology.
A study has found that human and canine B-cell lymphoma expression profiles are similar, providing a new model for understanding the disease. This discovery may facilitate faster development of new therapies for both humans and dogs with lymphoma.
A research team at Bigelow Laboratory for Ocean Sciences has developed a new genetic tool to analyze microbial life in oceans. They found that marine microbes are adapted to very narrow and specialized niches, utilizing diverse energy sources and displaying genomic streamlining.
A study published in PLOS ONE suggests that Mesolithic humans transported banded wood snails from southern France to Ireland, based on genetically identical snails found in both regions. The research provides insight into the ancient human migration patterns and their impact on the local ecosystem.
The new technique allows scientists to study protein function in individual cell types in a living organism, providing deeper insights into protein function. The approach uses nonsense-mediated decay (NMD) to restrict knockdown to a single cell type, giving complete control of gene expression.
Researchers identified a genetic translocation that can precipitate disease in adenoid cystic carcinoma, with many disease-associated mutations occurring in genes modifying DNA. Identifying individual mutations will aid in the development of personalized therapy, according to accompanying commentary.
A new article in Proceedings of the National Academy of Sciences refutes a theory that modern humans settled in southern Asia before the Mount Toba eruption. The research uses mitochondrial DNA evidence and other data to conclude that modern humans arrived in India no earlier than 60,000 years ago.
Researchers have found that interferon-beta treatment significantly improves the physical condition of animal models of spinocerebellar ataxia 7, a fatal genetic disorder characterized by coordination problems. The treatment reduces the load of mutant ataxin-7 and leads to increased PML nuclear bodies involved in protein degradation.
Researchers at Cold Spring Harbor Laboratory discovered critical differences between human Argonaute proteins, including a single amino acid change in hAgo1 that enables it to act as a slicer. The study highlights the importance of protein regions beyond the active site in determining activity.
Researchers at UC Irvine have discovered that circadian rhythms play a crucial role in the body's immune response to intestinal infections. The study suggests that targeting treatments that supplement the power of the body clock could be an effective approach to treating bacterial pathogens like salmonella.
Researchers found that Shigella uses a biological 'RNA thermometer' to monitor its environment and produce the necessary protein for survival. At body temperature, the thermometer melts away, allowing the bacterium to synthesize the ShuA protein needed for iron acquisition.
A new report highlights the challenges of collecting DNA for human rights purposes, such as protecting victims of human trafficking. The authors propose multiple approaches and solutions to combat this issue, including collaboration among government authorities, law enforcement, social services, academics, and victim advocates.
Chuan He has been selected as an HHMI investigator to uncover the mechanisms of reversible RNA methylation. His research team will use genomics tools and expertise in various biology fields to explore this new area.