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.
Experts from 11 countries agree on a joint DNA-based database to combat child trafficking, with the goal of eradicating the crime. The DNA-Prokids Programme aims to reunite victims with their families and prevent further exploitation.
The domestic horse genome sequence has been completed, providing access to specific gene sequences for identifying traits. The findings have significant implications for improved breeding practices and studying human health, particularly in relation to shared genetic conditions.
The Genome 10K Project aims to sequence the DNA of approximately one species per genus of living mammals, birds, reptiles, amphibians, and fish. This will help reconstruct the genetic changes that gave rise to diverse life forms on Earth, with potential benefits for human and animal health, as well as conservation efforts.
Researchers discovered a major metabolic switch in fruit flies that plays a key role in alcohol tolerance and found direct translation to humans. This discovery provides a crucial explanation of why some people tolerate alcohol better than others and offers a potential target for preventing or eliminating alcoholism.
Researchers found a mechanism that enables proteins to become more specialized over time, contributing to human biological complexity. Random genetic mutations in duplicate genes can lead to dosage imbalances, which can be alleviated through paralogization, allowing humans to maintain complex tissues.
Researchers developed a genetic family tree for cows and ruminants, spanning 29 million years, using a new technique that also applies to humans. The study provides insights into cattle domestication, breed formation, and evolutionary connections to humans.
Berkeley researchers have imaged the human RISC-loading complex for the first time, proposing a model of how small RNA molecules target specific messenger RNAs for silencing and/or destruction. This work provides new insights into RNA interference mechanisms and has significant implications for gene regulation in humans.
Researchers at Iowa State University have identified an enzyme that helps make tuberculosis resistant to a human's natural defense system. A new method to neutralize this enzyme may lead to a cure for the disease, which kills 1.5 to 2 million people worldwide annually.
Scientists have developed a new antigen that induces protective antibodies capable of blocking infection by genetically-diverse HIV strains. The chemically-activated antigen differs from previous vaccines and stimulates the production of broadly-neutralizing antibodies.
Researchers aim to understand mechanisms by which the thymus shuts down, affecting immune system function during aging. The goal is to find ways to turn the organ's function back on to fight disease or aging, potentially leading to longer and healthier lives.
The Baumann Lab has identified a key protein role in distinguishing chromosome ends from DNA breaks, preventing genomic instability and cancer. RAP1 plays a critical role in cancer prevention and may be linked to age-related diseases.
The American Society of Human Genetics presents the 2009 William Allan Award to Dr. Huntington F. Willard for his seminal findings in understanding chromosome structure and behavior. Willard's work has been instrumental in advancing human genetics, with a focus on X chromosome inactivation and centromeres.
A Mayo Clinic study has found two genes associated with good central nervous system repair in mice with multiple sclerosis. The identification of these genes may lead to the development of new therapies and a better prediction of patient outcomes.
Plant scientists at the University of Montreal have discovered a key mechanism that enables plants to prevent dangerous gene alterations, ensuring their survival. This finding has implications for understanding gene repair mechanisms in humans and preventing devastating diseases.
Researchers engineered a human HIV-1 inhibitor modeled after AoT5Cyp, a potent owl monkey fusion protein. The human fusion protein, hT5Cyp, blocked HIV-1 infection in human macrophage and T cell lines without disrupting normal cell function.
Scientists have identified a complete signaling pathway for plant brassinosteroid hormones, a discovery that could lead to genetic engineering of crops with higher yields and improve understanding of human diseases like cancer and diabetes. The study shares similarities with animal steroids, but functions differently at the cellular le...
Gladstone scientists have found the first genetic link between reptile and human heart evolution, linking protein Tbx5 to the development of four-chambered hearts in turtles and humans. The study sheds light on the evolution of warm-bloodedness and provides insights into congenital heart disease.
Researchers at Cold Spring Harbor Laboratory have developed a sensitive and accurate way of identifying gene copy number variations (CNVs) using new DNA sequencing technologies. This method allows for the detection of small structural variants that were previously overlooked by current methods.
Researchers found that nucleosomes package protein coding parts of genes in humans and the roundworm C elegans. This mechanism enables genes to be used in different ways, contributing to human development.
Researchers identified a mutated gene hDEC2 that allows individuals to thrive on six hours of sleep, and studied its impact on mice and fruit flies. The findings suggest that the gene modulates both sleep quantity and wakefulness-behavioral drive.
Researchers believe a parasite found in chimpanzees in equatorial Africa is the original source of malignant malaria, transmitted to humans through a single mosquito around 5,000 years ago. This discovery could aid the development of a vaccine for malaria, which affects 500 million people annually.
Researchers found a distinct 'DNA signature' in human sperm, which recognizes an egg's species-specific DNA, enabling fertilization. This discovery explains male infertility and pregnancy failures.
A team at WPI and CellThera has discovered a novel method to turn on stem cell genes in human fibroblasts by manipulating culture conditions. This breakthrough could lead to treatments for human diseases and traumatic injuries by coaxing patient cells to repair and regenerate damaged tissues.
Researchers at OMT successfully created heritable, specific and permanent genetic modifications in rats using Zinc Finger Nuclease (ZFN) technology. This achievement paves the way for unrestricted development of a novel human monoclonal antibody platform.
Genetic analysis reveals Australian Aborigines originated from south Asia, tracing back to Indian populations with exclusive mutations. This discovery supports archeological evidence of human occupation in Australia dating back to approximately 45 thousand years ago.
A new gene, RCP, has been identified as a potential breast cancer-promoting gene, with overexpression causing tumor cell characteristics and metastasis. Targeting RCP may provide a way to inhibit the known tumor-promoting pathway through activation of the RAS signaling pathway.
Researchers at Yale University School of Medicine and the University of California Davis have discovered a protein, PRCP, that regulates appetite suppression by breaking down alpha-MSH in mice. Administration of PRCP inhibitors reduced food intake in both normal and obese mice.
Scientists have identified three previously unknown genes in E. coli that are essential for the survival of the bacteria and one out of the three could be implicated in cancer or developmental abnormalities in humans. These genes are also found in numerous other creatures, suggesting a vital role for them across many species.
Researchers at UT Southwestern Medical Center have discovered a gene that activates in mouse embryonic stem cells, allowing them to grow and divide rapidly in the lab. This breakthrough could enable scientists to maintain ES cells from other species, leading to new discoveries in medical research.
Variations in the T1R3 gene correspond to individual differences in sensitivity to and perceived intensity of umami taste. The study found that certain people are highly insensitive to umami, making it difficult for them to detect low levels of this taste quality.
Researchers identified CST5 as a candidate tumor suppressor gene induced by vitamin D3 in human colon cancer cells. The protein cystatin D inhibits cancer cell growth and is responsible for some of vitamin D3's anticancer effects.
A new study identifies a genomic fragment that reduces the effect of a type 2 diabetes risk gene in mice. The researchers found that this fragment, known as a 'jumping gene,' diminishes the activity of the risk gene Zfp69. In overweight individuals with diabetes, the human equivalent of this gene is highly active.
A new study found that blood stem cell growth factor (GCSF) reversed memory impairment in mice with Alzheimer's disease by reducing beta amyloid deposits and promoting new neuron production. The treatment showed promising results in both bone marrow and brain, offering a potential therapy for the disease.
Researchers found that human female embryos inactivate one X chromosome prior to implantation, which may affect laboratory culture conditions and embryo survival. This process is thought to have remained unchanged throughout evolution and has implications for human embryonic stem cell research.
Researchers discovered that variation in the same gene affects disease resistance in both humans and baboons, with 60% of Amboseli baboons infected with a malaria-like parasite. The findings provide new insights into the genetic basis of differences in vulnerability to infection.
Researchers at Duke University have found that variation in a single gene influences baboons' susceptibility to a closely related parasite, similar to its impact on humans. The study's findings provide a unique example of how the same genetic mechanism can confer resistance to different parasites.
The National Institutes of Health has awarded Washington University School of Medicine four grants totaling $19 million to explore the human microbiome. The researchers aim to catalog microbes found in various body sites and determine their links to good health and disease.
Researchers reject popular DNA analysis suggesting humans are closely related to chimpanzees, proposing a new grouping for humans, orangutans and common ancestors. A scenario of the migration and evolution of 'dental hominoids' is presented.
A study analyzing tickle-induced vocalizations in infant and juvenile great apes, as well as human infants, found a common evolutionary origin for laughter. The researchers discovered that laughter evolved gradually over the last 10-16 million years of primate evolution, with humans exhibiting acoustically distinct features.
Researchers found that human friendship is linked to cognitive mechanisms creating a ready-made support group, prioritizing helpful individuals in conflicts. The Alliance Hypothesis suggests friendships prioritize mutual care over reciprocal benefits.
Researchers aim to identify genetic signals for regeneration in salamanders, a model for human limb growth, with the goal of developing therapies to enhance regenerative response. The team hopes to create a comprehensive database of genes involved in regeneration to inform how to coordinate complex structures in humans.
A controlled diet study with human volunteers found that a 2:1 w6/w3 ratio mimics early human diets can reduce inflammatory signaling genes. This study provides the first evidence of large changes in gene expression as a mechanism for omega fatty acids' clinical effects
A new paper reveals that there are more genetic differences between humans and mice than previously thought. One-fifth of mouse genes are new copies that have emerged in the last 90 million years of mouse evolution.
Researchers have identified a genetic link between periodontitis and coronary heart disease (CHD), with a shared genetic variant located on chromosome 9. The study found that the genetic variation associated with both diseases is identical, indicating a strong genetic basis for the connection.
Research finds that humans with diverse major histocompatibility complexes (MHCs) are more likely to choose mates with dissimilar MHCs, increasing genetic variability and immune system efficiency. This evolutionary strategy may help ensure healthy offspring and avoid endogamy.
Researchers have developed a mouse model of Wolfram Syndrome, linking CISD2 gene function to mitochondrial integrity and aging. CISD2-deficient mice display premature aging, decreased body weight, and degeneration of optic and muscular tissues.
Researchers have identified a key interaction between smallpox virus and human protein human nuclear factor kappa-B1, which inhibits inflammation pathways. This finding may reveal new strategies for developing treatments for smallpox and understanding the human immune system.
The Monell Center has received a $100,000 Grand Challenges Explorations grant to investigate the role of mosquito taste in malaria transmission. The project aims to identify new strategies to deter mosquitoes from biting humans by understanding how human skin tastes to them.
A recent study published in Critical Care Medicine found that older men are at a higher risk of death from community-acquired pneumonia compared to women. The researchers discovered that men's bodies respond differently to infection, leading to a stronger inflammatory and coagulation response, which may break up blood clots more quickly.
Scientists have developed a new tool to identify big events in human history by examining tiny genetic differences. This research, published in the journal Genetics, confirms a major decline in European populations 32,500-47,500 years ago and helps pinpoint gene mutations linked to diseases such as cancer and heart disease.
A new mouse model has been developed to understand the cause of progressive hearing loss, opening up avenues for treatment. The study found that a genetic mutation in microRNA seed region influences sensory hair cell production, leading to impaired hearing.
Researchers at Autoimmunity Research Foundation discovered that hidden bacteria alter human genes and gene products, leading to autoantibody production. Antibacterial therapies targeting these microbes can reverse autoimmune disease processes.
Scientists at the University of Central Florida have revived a dormant gene found in humans, which produces retrocyclin, a protein that resists HIV. The study found that restoring the production of retrocyclins prevents HIV entry and transmission.
A group of Michigan State University scientists warn that US farm animal research is facing a critical funding crisis, with only $32 million allocated from a $88 billion budget in 2007. This lack of funding threatens not only the research itself but also human health studies that rely on large-animal models.
Jeremy Nathans receives the Scolnick Prize for his groundbreaking work on color vision, brain development, and retinal disease. His research has led to significant insights into human blindness and the basis for many forms of color blindness.
A mouse study found that genetics play a role in susceptibility and resistance to prenatal alcohol exposure, with some strains showing teratogenic effects while others resisted, suggesting genetic influence. The study also highlights the importance of considering genetic factors in human FASD research.
Researchers at the University of Liverpool have developed a new method to identify genes that help protect the body from age-related changes. The study analyzed over five million gene measurements across multiple tissue types in animals and humans, highlighting key biological mechanisms that allow the body to adapt to aging.
Researchers at the University of Iowa have discovered a new mechanism for DNA biosynthesis in certain organisms, which may be targeted by new antibiotics. The discovery has the potential to combat multiple drug-resistant diseases such as tuberculosis.
Research published in Genetics reveals genetic priming in females, making them more likely to choose certain males over others, influencing mating outcomes and future reproductive behaviors. The study's findings suggest that genetic compatibility is key to understanding love at first sight.
A recent study by Penn State researchers suggests that several statistical methods used to detect natural selection at the molecular level are faulty. This has implications for the interpretation of hundreds of published studies on human evolution and the role of natural selection in shaping human traits.