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 team of scientists has developed a new method to create stem cells with embryonic-like properties without using viruses, which can trigger cancer. This approach imports necessary genes on a small DNA circle and naturally disappears from the cell population over time.
Researchers have identified 10 genes linked to changes in QT interval duration, a key factor in sudden cardiac death. The discovery could help identify individuals at risk and aid pharmaceutical companies in developing safer drugs.
Dr. Mo Kwan Kang has been recognized for his groundbreaking research on the senescence process in human oral keratinocytes, aiming to understand health and disease of human oral mucosa. He has authored over 30 research articles and won several major research awards.
A new study identifies a human genetic link to high levels of 'good' cholesterol, highlighting the role of endothelial lipase enzyme mutations in HDL-C levels. Researchers discovered rare mutated forms of the LIPG gene that significantly increase plasma HDL-C levels.
A recent study found that oral quinacrine does not increase survival in patients with prion disease, but may slow progression and improve symptoms. However, the treatment was associated with increased incidence of adverse events, which were mostly mild and manageable.
A genetic variant on chromosome 8 is found to occur significantly more frequently in people with cleft lip and palate than in the control group. The study suggests that genes may play a far more important role in the formation of clefts than previously thought.
Heidelberg cardiologists have discovered a single amino acid mutation that can severely limit heart function in zebrafish, a model similar to the human genome. The researchers hope to develop new therapies for patients with cardiac insufficiency by targeting this mutation.
A genetic link has been identified between cats and humans for two forms of retinitis pigmentosa, a disease causing blindness. Researchers found that cats with specific mutations can be used to test the efficiency of gene therapy for both humans and animals.
Researchers have identified a way for the brain to compensate for problems with neurotransmitters like serotonin and dopamine, opening up new treatment options for addiction, depression, Parkinson's disease, and schizophrenia. The discovery was made using fruit flies with a genetic mutation that disrupted monoamine neurotransmitter rel...
Researchers identified AEG1 as a gene and protein crucial for HCC progression, suggesting targeting it may be a new therapeutic strategy. Overexpression of AEG1 accelerated tumor growth in mouse models.
African populations are still evolving due to natural selection, with lactose tolerance and genetic variation influenced by diseases like malaria. Penn genetics researcher Sarah Tishkoff presents her findings on human evolutionary history in Africa.
A new study published in Nature reveals significant genetic differences between individual yeast organisms, with variations of up to 4% compared to 1% between humans and chimpanzees. The findings suggest that human activities, such as wine and beer production, have influenced the evolution of yeast strains.
Researchers found a surge in duplicated sequences containing rapidly evolving genes in the genomes of humans and great apes, with most differences occurring prior to the speciation of chimpanzees. The study suggests that genetic differences contribute significantly to the distinctiveness between humans and chimps, and that these region...
Researchers at UTSA have made a breakthrough discovery in the fight against tularemia, a deadly bio-warfare agent. They identified a unique metabolic pathway and enzyme, nicotinamide adenine dinucleotide synthetase (NMS), that is specific to Francisella tularensis, making it a potential target for therapeutic development.
A study by Kiel University confirms a special sequence variation of the FOXO3A gene is more frequent in centenarians globally, supporting its role in longevity. The research team analyzed DNA samples from 388 German centenarians and 731 younger individuals, finding consistent results worldwide.
A new study found that animal oocytes cannot fully reprogram adult human cells, making them unsuitable substitutes for producing patient-specific stem cells. The researchers tested using oocytes from cows, rabbits, and humans, but failed to achieve the necessary gene expression changes.
A team of researchers at the University of California, Davis, has recorded and visualized the human DNA repair process using fluorescent microscopy. The study reveals key differences between human and bacterial DNA repair mechanisms, including the regulation of Rad51 protein's growth.
A study published in the Journal of the National Cancer Institute found that HPV18 DNA levels are not associated with the likelihood of progressing to advanced precancerous lesions of the cervix. The study suggests that testing for high levels of HPV18 DNA is not clinically useful.
Researchers at Cold Spring Harbor Laboratory discovered a new class of small RNAs that regulate gene expression by acting as 'off' switches at specific sites. The study also reveals a strikingly novel biochemical pathway for RNA processing, which may have significant implications for understanding human disease.
Researchers have identified a diagnostic biomarker SPOP that can accurately detect clear cell renal cell carcinoma, the most common type of kidney cancer. The study found that 99% of clear cell RCC samples showed elevated SPOP levels, making it a highly sensitive and specific diagnostic tool.
Researchers have discovered DNA hotspots associated with psoriasis, an autoimmune disease characterized by skin patches and joint pain. The study identified four novel genes linked to the condition, providing potential targets for new treatments.
A Purdue University researcher used a process focusing on one gene to trace the evolutionary history of domesticated rice, discovering genetic variation over millions of years. By comparing domesticated plants to wild rice species, scientists can identify valuable genes for desirable traits like branching and increased plant size.
A recent study has genetically linked Lou Gehrig's disease in humans to a similar disease in dogs called degenerative myelopathy. The researchers discovered that dogs with this disease have the same genetic mutation as humans with ALS, paving the way for using them as animal models to help identify therapeutic interventions.
Researchers modelled gene evolution alongside language development, concluding that genetic adaptation to language is unlikely due to rapid cultural change. The study suggests that human language has evolved primarily through cultural conventions rather than biological adaptation.
A genetic variation involving serotonin has been found to shape social behavior in rhesus macaque monkeys, which could provide a new model for studying autism, social anxiety, and schizophrenia. Monkeys with this variation spent less time looking at faces and were more risk-averse.
Research published in the journal Genetics shows that fruit flies and humans regulate their circadian rhythms through similar cellular machinery. This discovery provides a viable animal model for circadian research and sheds light on the potential treatment of seasonal affective disorder, insomnia, and possibly some cancers.
Researchers have found that men outnumbered women in the ancient African exodus, tracing variations in X chromosomes and non-sex chromosomes to support their conclusion. The study's lead author notes that these findings align with anthropologists' teachings on hunter-gatherer populations.
A leading researcher at Stanford University School of Medicine argues that the time has come to shift from mouse-centered approaches to a broader 'systems biology' approach to tackle human diseases. The current small-laboratory approach has limitations in translating results to humans.
A population cohort study found six novel genetic variants associated with lipid levels, a common indicator of heart or artery disease. The research team analyzed over 20,000 DNA samples from European countries, increasing the power of 'genetic microscopes' to identify lipid-gene links.
Researchers have identified MEDNIK syndrome as a debilitating genetic disorder characterized by mental retardation, enteropathy, deafness, and other symptoms. The AP1S1 gene mutation is found to cause impairment of neural networks, including the spinal cord, inner ear, and brain.
Researchers have identified a connection between fruit fly genetics and human heart disease, revealing that certain genes play a role in both embryonic and adult heart function. The study found TBX20 mutations in humans with structural congenital heart abnormalities and heart muscle dysfunction, suggesting its potential involvement in ...
Scientists at St. Jude Children's Research Hospital identified distinctive genetic changes in cancer cells of children with acute lymphoblastic leukemia (ALL) that cause relapse. The study found that the majority of ALL relapse cases arise from a cell already present at diagnosis, providing a potential target for treatments.
A virus causing human-like symptoms may have emerged from a bird virus 200 years ago, according to scientists studying the common cold. Human metapneumovirus has high evolutionary rates and is closely related to Avian metapneumovirus C, suggesting a potential species barrier crossing event.
The new guide provides standardized guidelines for collecting data from wild primates, aiming to identify infection patterns and prevent epidemics. By integrating research from various disciplines, the study seeks to reduce the risk of pathogens jumping from animals to humans and vice-versa.
A new imaging database of chick embryos will map gene expression during the first 10 days of development, providing insights into diseases like spina bifida and cancer. The £2.6 million initiative aims to understand why developmental problems occur.
A study by Hayley Frend found that pond snails exhibit handedness in mating behavior, mirroring brain asymmetry pre-programmed by their mother's genes. This discovery sheds light on brain specialization and its importance across species.
Researchers have identified a gene mutation in Dalmatians that causes high uric acid levels and bladder stones, which can be eliminated through breeding programs. The SLC2A9 gene, also found in humans and great apes, is responsible for the elevated uric acid levels in Dalmatians.
Researchers compared many human and chimpanzee genomes to identify duplicated or lost regions during evolution, finding similar patterns in copy number variation but key gene differences. CNVs affected genes involved in inflammation and cell proliferation, with one gene linked to HIV susceptibility found to have reduced numbers in chimps.
A new mouse mutant has been identified that mimics human progressive hearing loss, with features in common with existing forms of deafness. The mutation affects the Atp2b2 gene, leading to degeneration of hair cells in the inner ear.
Researchers found that eating red meat absorbs human cells with non-human molecules, making them a target for disease-causing bacteria. The study emphasizes the need to eat well-cooked or pasteurized dairy products to avoid food poisoning.
A recent study from the University of Iowa found that nearly half of human DNA, composed of repetitive sequences like Alu elements, gives rise to functional exons that regulate gene expression. These findings suggest a link between 'junk' DNA and human-specific traits, such as muscle-related diseases.
Researchers found that women place significant importance on altruistic traits when choosing a partner. Altruistic behavior was correlated with stronger preference for such traits in both men and women.
The discovery of ancient DNA in 9,000-year-old bones found off the coast of Israel reveals that human tuberculosis is 3,000 years older than previously thought. The study confirms that the human strain of TB evolved before bovine TB and sheds light on its evolution over time.
A Mayo Clinic study found that obese patients with specific genetic markers experienced greater weight loss when taking the medication sibutramine. Patients who lacked these genetic factors showed little to no weight loss during the 12-week trial.
Scientists have discovered a connection between Apobec3 and the production of neutralizing antibodies against HIV, potentially shedding light on why most people who contract the virus don't develop effective immunity. The study's findings could lead to new insights into developing HIV drugs and vaccines.
A study published in PLOS Biology suggests that sleep is crucial for brain function, allowing the brain to regroup after a hard day of learning. The research proposes that sleep enables the brain to consolidate new memories and 'forget' random impressions, making it essential for continued learning.
Dinoflagellates have evolved a unique way to pack their genetic material into compact chromosomes without using histones. This discovery raises questions about the evolution of chromosomes and whether dinoflagellates once had histones but lost them. The study provides new insights into the biochemical basis of chromosome formation.
A study on Trichoplax genome findings aids researchers in learning how groups of genes function in humans and other species. The genetic code of this simple saltwater creature reveals common genes among many species, helping scientists figure out their lineage and divergence.
New studies presented at the XVII International AIDS Conference confirm a clear threshold response for DNA damage caused by ethyl methanesulfonate (EMS) in Viracept. The research finds that patients exposed to elevated EMS levels are not at increased risk of cancer, despite levels below this threshold.
Researchers found evidence that humans fought back against an ancient retrovirus with a defense mechanism called APOBEC3G, which is still used to attack modern retroviruses. This discovery provides insight into the evolutionary battle between humans and viruses.
Emory University researchers have discovered that fluoroquinolone antibiotics can enhance the effectiveness of RNA interference, a gene-silencing technique, in laboratory settings. The most powerful enhancer was enoxacin, which has been used to treat bacterial infections.
Researchers discovered a relationship between long DNA sequences called palindromes and replication delays, which can lead to chromosomal breaks and cancer. Palindromes stall the replication machinery, causing DNA malfunction, and specific proteins may protect the genome from breaking at these sites.
A multi-disciplinary group proposes ten principles to guide the use of racial and ethnic categories in genetic research, minimizing misinterpretation and misuse of human genetic variation. The guidelines recognize that racial and ethnic categories are socio-political constructs that change over time.
Research published in Nature Genetics reveals that marsupials and humans share an identical genetic imprinting mechanism that evolved 150 million years ago. This discovery helps determine how the mechanism works and what can be done to prevent human diseases related to genetic imprinting.
Researchers identified 39 histone modifications and a core set of 17 associated with active genes. These combinations, known as 'backbone sets,' were found to be present in more than a quarter of promoter regions, suggesting specific meanings for specific patterns of modification.
Eco1 and its human homologue maintain sister chromatid cohesion by affecting Smc3, a key component of the cohesion protein complex. This process is critical for genome stability and cell survival.
Researchers have created the first outline of aortic arch development and identified the role of the gene unc45a in forming AVMs. The study provides new understanding into how these congenital circulatory defects develop, shedding light on genetic and physiological factors that contribute to their formation.
A new approach to archiving human genetic information is introduced through Gene Wiki, an online repository of human genes stored within Wikipedia. This community-annotated system allows for a flexible and organic accumulation of science, enabling all readers to edit and add to the gene wiki pages.
The study reveals hundreds of biological differences between male and female gene expression in the cerebral cortex, indicating a long-evolved signature of sex differences. These findings have implications for medical dosages and treatments of diseases or damage to the brain.
Researchers have pinpointed four proteins - apoA1, transthyretin, clusterin and albumin - that react strongly to bovine growth hormone, potentially serving as biomarkers for growth hormone activity in humans. The discovery could offer a wider testing window for detecting recombinant human growth hormone misuse.