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 study by NYU Abu Dhabi researchers found that children from the Fulani group have a distinct immune response to malaria, with key differences in immune cell activity offering greater protection. The study highlights the impact of genetics and lifestyle on immune responses.
Researchers at the University of Utah Health have identified a gene variant called CNTN2 that may protect against PIGA-CDG, an ultra-rare genetic disease causing seizures and developmental delays. This finding could lead to better therapies for PIGA-CDG by targeting multiple genes involved in symptom severity.
Researchers have uncovered the Fulani people's genetic diversity, tracing their history back to the Green Sahara period. The study found correlations between culture, geography, and genetics, highlighting the importance of Fulani subsistence strategies in shaping their genetic landscape.
A genetic study of burial grounds from the Avar period in Lower Austria found that genes and culture did not have to match. The analysis revealed a high number of relatives among the deceased, reconstructing contemporary six-generation-long pedigrees at each site.
A new study published in PLOS ONE found that the genomes of dogs within the Chornobyl Exclusion Zone did not exhibit genetic mutations from radiation exposure. Instead, researchers suggest that low-level environmental toxin exposure over many years may have contributed to genetic differences between dog populations. The findings offer ...
Researchers found 84 rare, large chromosomal abnormalities associated with pediatric solid tumors, primarily inherited from unaffected parents. Smaller gene-disruptive germline SVs also identified as risk factors for childhood cancers.
Researchers found that human cells have higher gene expression rates compared to chimpanzees, with 5-10% of genes showing significant differences. Human glial cells, particularly oligodendrocytes, showed the greatest variations in gene expression, suggesting a link to human brain complexity.
Researchers analyzed nuclear genomes of ancient European specimens to shed light on the genetics of early Europeans and their interactions with Neandertals. The study reveals a small, isolated group that interbred with Neandertals but left no present-day descendants.
Researchers at Salk Institute establish a novel framework for the relationship between nutrition and cell identity. They found that a nutritional switch from acetate to citrate plays a key role in determining T cell fates, shifting them from active effector cells to exhausted cells.
Researchers have unraveled the precise timing and functional legacy of Neandertal gene flow into early modern humans. The study suggests that most non-African individuals harbor one to two percent Neandertal ancestry, with the majority tracing back to a single shared period between 50,000 and 57,000 years ago.
A genomic study spanning over 300 genomes reveals that modern humans acquired several Neanderthal genes advantageous for our lineage, including those in skin pigmentation, immune response, and metabolism. The study also found rapid natural selection of Neanderthal ancestry within 100 generations after gene flow.
Engineers at USC Viterbi School of Engineering have developed a new CRISPR toolkit that allows for precise, remote-controlled genome editing using focused ultrasound. This breakthrough enables the treatment of various genetic disorders and diseases by activating or silencing specific genes with precision.
A new whole-genome study challenges the long-held belief that Armenians are descendants of Phrygian settlers from the Balkans. Instead, researchers found a genetic input into the region from Neolithic Levantine farmers, suggesting a large-scale post-Early Bronze Age migration wave across the Middle East.
A recent study found that Viking colonizers of the Faroe Islands and Iceland came from different Scandinavian populations. The researchers analyzed genetic samples from 139 men and compared them to samples from Norway, Sweden, Denmark, Iceland, and Ireland, revealing a 'founder effect' that persists in today's male populations.
Researchers are using genetic data from Le Bonheur and UT Health Science Center to better diagnose patients with childhood interstitial and diffuse lung diseases. The goal is to identify genetic causes and provide earlier diagnosis and treatment for this rare disease.
Scientists have discovered multiple instances of genetic interbreeding between Denisovans and modern humans, shaping early human history. Denisovan genes confer advantages in distinct environments, such as tolerance to low oxygen conditions and heightened immunity.
A study analyzing DNA from skeletal remains in Pompeii casts reveals the cosmopolitan origin of the city's inhabitants, contradicting previous physical appearance-based assumptions. Genetic data also sheds light on ancestry, sex, and familial relationships, challenging traditional notions.
The study shows an alternating series of interaction and gene flow between inhabitants of mountainous upland regions and steppes to the north of the Caucasus. Innovations in herd management, dairying, and mobility enabled autonomous nomadic lifestyles adapted to exploit the Eurasian steppe zone.
The ASHG 2024 Annual Meeting will showcase the latest research in human genetics and genomics. The event will feature a Presidential Symposium on Mendelian traits and a Distinguished Speakers Symposium on the promise of human genetics and genomics, among other sessions.
A new study finds that the gene for starch-digesting saliva may have first duplicated more than 800,000 years ago, seeding genetic variation that shapes modern diet. This early duplication set the stage for significant variation in the amylase region, allowing humans to adapt to shifting diets with increasing starch consumption.
Researchers identified a protein that could improve the cardiovascular health of patients with progeria, a rare genetic disorder. The discovery provides promising insights into potential treatments targeting cardiovascular complications in HGPS.
Researchers at Colorado State University have identified an alternate method to study changes during the DNA replication process in lab settings using genetically modified yeast. This new approach provides a less toxic and quickly reversible alternative to hydroxyurea, allowing for better insight into cell cycle arrest mechanisms.
A study found that HLA-DRB1*01:03 is associated with severe ulcerative colitis, requiring major operations and systemic corticosteroid use. The allele has previously been linked to ulcerative colitis incidence, supporting earlier genetic studies.
A study of a 2000-year-old Yayoi individual's genome found that the majority of Japanese immigration came from the Korean Peninsula during the Yayoi and Kofun periods. The discovery provides new insights into the details of ancient immigration patterns to Japan.
Researchers have identified six epigenetic hallmarks that characterize transformed cells, including DNA methylation, viral reactivation, and histone protein modifications. These properties enable cancer cells to evolve and resist therapy, making them a key target for improving diagnosis and treatment.
Researchers at the Icahn School of Medicine at Mount Sinai have identified a novel genetic variant associated with intellectual capacities and educational outcomes. Tandem repeats in the AFF3 gene were found to disrupt genetic instructions, impacting cognitive abilities.
Researchers developed a compact 'gene scissor' tool, TnpB, which shows a 4.4-fold increase in efficiency of modifying DNA, making it more effective as a gene editing tool. The tool can be used to treat patients with familial hypercholesterolemia, reducing cholesterol levels by nearly 80%.
A study published in Nature Communications found that one in eight newborn babies has a genetic protection against jaundice. The researchers identified a specific gene variant that codes for an enzyme linked to increased bilirubin metabolism, providing an opportunity for personalized medicine.
Researchers identified a genetic cause of TNF deficiency, which incapacitates a specific immune process in the lungs, leading to targeted and severe illness. This finding may upend long-held assumptions about the immune system and have far-reaching clinical implications.
A study by the Open Wild Wheat Consortium explains how Aegilops tauschii, a wild grass, contributed to the genetic diversity of bread wheat, enabling its rapid spread across different climates. This hybridization event allowed humans to settle down and form societies.
Researchers unveil retrotransposon-derived DNA zip codes that enable myeloma cell internalization, shedding light on cancer evolution and treatment response. The findings highlight the potential of zip-code technology in improving patient outcomes and advancing human health.
Researchers genetically engineered Toxoplasma gondii to produce and release therapeutic proteins in the human brain, bypassing the blood-brain barrier. The method has potential implications for treating diseases caused by protein deficiencies or abnormal expression.
A new model developed by Penn State researchers more accurately predicts the causal relationship between genetic and environmental factors in disease development. The study found that lifestyle and environmental factors play a larger role than previously believed, offering new opportunities to mitigate disease risk.
Scientists have discovered a novel mechanism of dosage compensation in platypus and chicken, where protein levels are balanced despite imbalanced mRNA levels. This finding challenges previous assumptions about the role of RNA in gene expression.
A new study using data from the VA Million Veteran Program reveals substantial similarities in the genetic architecture of complex traits across four population groups. The analysis identified 26,049 variant-trait associations and showed that non-European populations contribute significantly to genetic diversity.
A new study has generated a global catalog of human gene expression data from around the world, increasing representation of understudied populations. The increased diversity empowers researchers to attain more-accurate insights into genetic factors driving human variation and disease risk.
A study found that living in disadvantaged neighborhoods is associated with higher stress-related gene activity, which could contribute to aggressive prostate cancer in African American men. The research also linked five genes related to inflammation to an increased risk of prostate cancer.
Researchers found evidence of multiple waves of genetic intermingling between modern humans and Neanderthals, challenging previous theories. The study reveals a more intimate connection between early human groups than previously believed.
A genetic investigation of 64 child remains found at Chichén Itzá reveals that all the children were male, indicating related male twins were likely selected for ritual activities. The findings suggest a post-sacrificial burial site, with the sacrificed individuals having been chosen for a specific reason.
Researchers discuss Ibrutinib, a BTK inhibitor approved for chronic lymphocytic leukemia treatment, noting 20-25% of patients experience dose-limiting cardiovascular toxicities. A recent study identifies genetic biomarkers, such as KCNQ1 and GATA4, associated with cardiotoxic events, which may improve risk stratification.
A new genetic analysis of Celtic burial mounds in Baden-Württemberg, Germany, confirms the long-held suspicion that two princes were biologically related. The study finds a close relationship between the two individuals and suggests that power structures among early Celtic elites may have been based on biological kinship.
A new study has discovered that bank voles in southern Sweden carry a virus that can cause hemorrhagic fever in humans, spreading the disease further south than previously known. The virus strain is closely related to strains from Finland and Karelia.
A study led by Andrea Migliano from the University of Zurich has discovered previously unknown links between culture, language, and genes among different hunter-gatherer populations in Central Africa. The team found that musical instruments were exchanged long before agricultural populations arrived in the region, suggesting extensive ...
Researchers sequenced ancient genomes to understand the genetic composition of western plateau populations over 3,500 years. They found complex interactions between southern and western plateau populations, with Central Asian components introduced around 2,300 years ago.
FutureNeuro, a leading SFI Research Centre, is expanding its research programme with a focus on diagnostics, therapeutics, and digital health. The centre aims to develop precision diagnostics, future treatments, and systems using real-time health data.
A University at Buffalo-led research team has found that the same genes whose mutations gave rise to a low functioning male gorilla reproductive system may also be responsible for human male infertility. Researchers identified 109 reproductive-related gorilla genes that are often mutated when present in infertile men.
A large-scale study has identified over 2,000 genetic signals associated with blood pressure, providing a more detailed understanding of the complex trait. The findings lead to improved polygenic risk scores, which can predict blood pressure and hypertension risk.
A team of researchers has discovered the role a specific protein complex plays in certain forms of immune dysregulation. SHARPIN deficiency is linked to autoinflammation and immunodeficiency, but unexpectedly does not manifest dermatological issues. Treatment with anti-TNF therapies resolves symptoms.
A new study found that genetic variants in lysosomal genes may contribute to the development of Parkinson's disease in individuals exposed to high levels of pesticides. The research suggests a potential gene-environment interaction, where minor changes in these genes can lead to increased disease risk under stress.
Researchers analyzed ancient DNA data from 424 individuals to reconstruct Avar community structures and social dynamics. They found strict patrilineal descent systems, female exogamy, and levirate unions, suggesting females played a key role in promoting community cohesion.
A team of researchers has identified a single nucleotide change in the TBX1 gene that affects skull base development, contributing to human's unique brain size. This variation is associated with lower TBX1 expression levels in humans compared to extinct hominins, leading to distinct changes in cranial morphology.
Research reveals specific lipids accumulate in tissues as we age and can be decreased through exercise, according to a recent study published in Nature Aging. The findings suggest that exercise may have a role in reversing age-related changes in human muscle tissue.
Scientists have discovered genetic variants in BSN and APBA1 genes linked to adult-onset obesity, type 2 diabetes, and fatty liver disease. These variants are associated with a significant increase in obesity risk, highlighting a new biological mechanism for the condition.
Research at the University of Gothenburg reveals a link between maternal protein intake during pregnancy and the formation of facial bone structures in offspring. The study found that a particular signaling pathway, mTOR, plays a crucial role in shaping the face.
Researchers have recovered ancient microbiomes from 4,000-year-old teeth in Ireland, revealing major changes in oral microenvironments. The study identified bacteria linked to gum disease and provided the first high-quality ancient genome of Streptococcus mutans, a major culprit behind tooth decay.
A new analysis published in Andrology found a higher genetic susceptibility to leisure computer usage was associated with a greater risk of erectile dysfunction in men. Each 1.2 hour increase in leisure computer usage predicted a 3.57-fold greater odds of erectile dysfunction.
A study led by Leopold Eckhart found that the genetic programme controlling keratinized claws originated in a common ancestor of humans and frogs. The research team used the tropical clawed frog as an experimental model and discovered that important hair components, including keratins, share similarities with human hair.
A new study from the University of Chicago analyzed DNA methylation in tissue samples from former smokers, finding evidence of the body's attempts to defend itself from tobacco smoke. The research team identified new regions associated with smoking and found that DNA methylation varies dramatically across cell types and tissue types.
Researchers have characterized the rapid series of events transforming a fertilized cell into a living being, highlighting rapid changes in genetic activity post-birth. The study's findings underscore the speed at which newborns must adapt to extrauterine life and offer insights into long-term physiology and health outcomes.
The study of ancient genomes has shed light on the evolution of modern humans, revealing genetic changes that distinguish us from Neanderthals and Denisovans. These findings suggest that population-level advantages, such as increased connectivity and access to resources, played a significant role in shaping human migration patterns.