Articles tagged with Human Genetics
Comprehensive exploration of living organisms, biological systems, and life processes across all scales from molecules to ecosystems. Encompasses cutting-edge research in biology, genetics, molecular biology, ecology, biochemistry, microbiology, botany, zoology, evolutionary biology, genomics, and biotechnology. Investigates cellular mechanisms, organism development, genetic inheritance, biodiversity conservation, metabolic processes, protein synthesis, DNA sequencing, CRISPR gene editing, stem cell research, and the fundamental principles governing all forms of life on Earth.
Comprehensive medical research, clinical studies, and healthcare sciences focused on disease prevention, diagnosis, and treatment. Encompasses clinical medicine, public health, pharmacology, epidemiology, medical specialties, disease mechanisms, therapeutic interventions, healthcare innovation, precision medicine, telemedicine, medical devices, drug development, clinical trials, patient care, mental health, nutrition science, health policy, and the application of medical science to improve human health, wellbeing, and quality of life across diverse populations.
Comprehensive investigation of human society, behavior, relationships, and social structures through systematic research and analysis. Encompasses psychology, sociology, anthropology, economics, political science, linguistics, education, demography, communications, and social research methodologies. Examines human cognition, social interactions, cultural phenomena, economic systems, political institutions, language and communication, educational processes, population dynamics, and the complex social, cultural, economic, and political forces shaping human societies, communities, and civilizations throughout history and across the contemporary world.
Fundamental study of the non-living natural world, matter, energy, and physical phenomena governing the universe. Encompasses physics, chemistry, earth sciences, atmospheric sciences, oceanography, materials science, and the investigation of physical laws, chemical reactions, geological processes, climate systems, and planetary dynamics. Explores everything from subatomic particles and quantum mechanics to planetary systems and cosmic phenomena, including energy transformations, molecular interactions, elemental properties, weather patterns, tectonic activity, and the fundamental forces and principles underlying the physical nature of reality.
Practical application of scientific knowledge and engineering principles to solve real-world problems and develop innovative technologies. Encompasses all engineering disciplines, technology development, computer science, artificial intelligence, environmental sciences, agriculture, materials applications, energy systems, and industrial innovation. Bridges theoretical research with tangible solutions for infrastructure, manufacturing, computing, communications, transportation, construction, sustainable development, and emerging technologies that advance human capabilities, improve quality of life, and address societal challenges through scientific innovation and technological progress.
Study of the practice, culture, infrastructure, and social dimensions of science itself. Addresses how science is conducted, organized, communicated, and integrated into society. Encompasses research funding mechanisms, scientific publishing systems, peer review processes, academic ethics, science policy, research institutions, scientific collaboration networks, science education, career development, research programs, scientific methods, science communication, and the sociology of scientific discovery. Examines the human, institutional, and cultural aspects of scientific enterprise, knowledge production, and the translation of research into societal benefit.
Comprehensive study of the universe beyond Earth, encompassing celestial objects, cosmic phenomena, and space exploration. Includes astronomy, astrophysics, planetary science, cosmology, space physics, astrobiology, and space technology. Investigates stars, galaxies, planets, moons, asteroids, comets, black holes, nebulae, exoplanets, dark matter, dark energy, cosmic microwave background, stellar evolution, planetary formation, space weather, solar system dynamics, the search for extraterrestrial life, and humanity's efforts to explore, understand, and unlock the mysteries of the cosmos through observation, theory, and space missions.
Comprehensive examination of tools, techniques, methodologies, and approaches used across scientific disciplines to conduct research, collect data, and analyze results. Encompasses experimental procedures, analytical methods, measurement techniques, instrumentation, imaging technologies, spectroscopic methods, laboratory protocols, observational studies, statistical analysis, computational methods, data visualization, quality control, and methodological innovations. Addresses the practical techniques and theoretical frameworks enabling scientists to investigate phenomena, test hypotheses, gather evidence, ensure reproducibility, and generate reliable knowledge through systematic, rigorous investigation across all areas of scientific inquiry.
Study of abstract structures, patterns, quantities, relationships, and logical reasoning through pure and applied mathematical disciplines. Encompasses algebra, calculus, geometry, topology, number theory, analysis, discrete mathematics, mathematical logic, set theory, probability, statistics, and computational mathematics. Investigates mathematical structures, theorems, proofs, algorithms, functions, equations, and the rigorous logical frameworks underlying quantitative reasoning. Provides the foundational language and tools for all scientific fields, enabling precise description of natural phenomena, modeling of complex systems, and the development of technologies across physics, engineering, computer science, economics, and all quantitative sciences.
Researchers discovered that a high proportion of advanced carcinomas carry a mutant form of the Siglec-XII protein, which is rarely expressed in normal humans. This finding may explain why humans are more prone to aggressive cancers compared to chimpanzees.
A recent study suggests that a unique human genetic mutation may contribute to the high risk of advanced cancers, with approximately 30% of people still producing dysfunctional Siglec-12 proteins. These individuals are at twice the risk of developing advanced cancer compared to those who cannot produce the protein.
DeepMAge is an epigenetic aging clock that accurately predicts human age on over 6,000 DNA methylation profiles, outperforming previous clocks. The clock reveals associations with various age-related conditions, including cancer, dementia, and obesity.
An international team of researchers has connected specific genetic signals with specific areas of the face, identifying 203 genomic regions that play a role in human facial development. The study sheds light on craniofacial malformations such as cleft lip and palate, as well as evolutionary differences between various populations.
Researchers at the University of Pittsburgh School of Medicine have developed a method to create lab-grown liver organoids with blood- and bile-handling systems using synthetic biology and machine learning. The resulting organs can mature faster than natural organs, extending the life of mice with failing livers.
Researchers at the University of Chicago Medical Center have identified two new genes associated with preterm birth: HAND2 and GATA2. These genes play a crucial role in endometrial decidualization and embryo implantation, suggesting that their roles in pregnancy may be more important than previously anticipated.
A study led by The Jackson Laboratory and University of Maine found that the expression of Dlgap2 is associated with memory loss in mice and risk for Alzheimer's dementia in humans. Dlgap2 influences the formation of dendritic spines on neurons, which can affect cognitive function.
Researchers at Harvard University have captured high-resolution 3D images of human chromosomes, providing evidence to change the traditional X-like symbol used in textbooks. The images show that chromosome structure plays a crucial role in regulating gene transcription and cell division.
Recent studies report increased risk of rAAV mobilization in gene therapy, raising concerns for treated individuals and unintended populations. The research highlights the potential for rAAV vector production to replicate under certain conditions.
Researchers at UW Medicine created two cell atlases that map gene expression and chromatin accessibility in human development, providing unprecedented data for understanding cell differentiation. The atlases identify 77 main cell types and approximately 650 cell subtypes, shedding light on the regulatory 'grammar' of the cell.
A recent study published in Gastroenterology identified rare and common genetic variants that significantly increase the risk of developing life-threatening blood clots in IBD patients. The research suggests that genomic medicine could help lower this threat, enabling physicians to provide more precise care.
A large international consortium has sequenced the genome of 130 mammals and analyzed existing data to identify important DNA positions. This information can help researchers understand disease mutations in humans and preserve endangered species.
Researchers used ancient DNA samples to reconstruct the population history of prehistoric dogs, finding they diverged into at least five distinct lineages by 11,000 years ago. The study also suggests human-dog migration patterns didn't always align, with some populations showing little genetic influence from wolves.
Scientists identify a 34,000-year-old Early East Asian fossil with mixed Eurasian descent, showing a quarter of its ancestry came from western Eurasians. The study found that the individual's DNA contained segments from extinct hominins, including Denisovans and Neandertals.
The COVID-19 Host Genetics Initiative presents the results of a genome-wide association study, exploring genetic determinants of COVID-19 susceptibility, severity, and outcomes. The initiative brings together over 1,100 researchers from 46 countries to share data and accelerate research.
The study identified over 3 million novel variants in African genomes, showcasing the continent's vast genetic diversity. It also revealed complex patterns of ancestral mixing and natural selection, shedding light on population history, environmental adaptation, and disease susceptibility.
Studies identified genetic variants associated with COVID-19 severity, including a locus on chromosome 3 and novel genes. Researchers also explored therapeutic strategies and transmission dynamics of the virus.
Researchers at UNC School of Medicine found that most rhinoviruses require human protein STING to infect cells and cause disease. The discovery opens a new avenue for controlling infection and could lead to targeted therapies for treating common colds and acute wheezing episodes.
Researchers used cell-free DNA to monitor infectious and immune-related diseases, including COVID-19 infection, and identified tissue-of-origin through methylation markers. This technology has potential clinical applications in screening for tissue damage, detecting cancer early, and patient care.
Researchers at Duke University identified mutations in SARS-CoV-2 that helped it thrive in humans, including two regions dubbed Nsp4 and Nsp16. These changes affected RNA folding and may have contributed to the virus's ability to spread before symptoms appeared.
The University of Chicago research team has created a novel self-assembling nano-vaccine called ToxAll to protect humans from toxoplasmosis. The vaccine uses immunosense technology to boost each component of the immune system and deliver components of the parasite to relevant target cells.
Researchers at NYU Abu Dhabi have discovered a new immune evasion strategy used by the Plasmodium parasite, which could help develop novel therapeutic strategies and vaccines for malaria. The study found that microRNAs play a crucial role in regulating genes involved in the immune response.
The ASHG 2020 Virtual Meeting brings together thousands of scientists, clinicians, and advocates to share knowledge on the latest developments in human genetics and genomics. The event features over 200 oral presentations, nearly 2,000 scientific poster presentations, and special sessions recognizing outstanding achievements.
A new study analyzed DNA from medieval latrines in Jerusalem and Riga, Latvia, providing insights into the microbiomes of pre-industrial agricultural populations. The findings highlight the value of ancient latrines as sources of bio-molecular information and may provide context for interpreting modern microbiome health.
A new study characterizes the microbial diversity of ancient gut contents from medieval latrines, providing insights into pre-industrial agricultural populations' microbiomes. The research highlights the value of ancient latrines as sources of bio-molecular information, shedding light on the health of modern microbiomes.
Researchers analyzed gene expression in liver, heart, and muscle tissues of aging mice to define an 'aging footprint.' This data helped identify genes and proteins controlling the aging process, which may also be relevant in human aging. The study's findings have implications for understanding age-related diseases.
A study found that over 10% of people with severe COVID-19 have misguided antibodies attacking the immune system, while 3.5% carry genetic mutations impacting immunity. These groups lack effective immune responses crucial for protecting against viruses, leading to life-threatening pneumonia.
Researchers have successfully sequenced the Y chromosomes of Neandertals and Denisovans, shedding light on their genetic relationships. The findings reveal that Neandertals had adopted male sex chromosomes from modern humans, with similar patterns seen in mitochondrial DNA.
Researchers analyzed Y chromosomes of Denisovans and Neanderthals, finding early gene flow events led to replacement of archaic Neanderthal Y chromosomes by modern human Y chromosomes. No replacement of Denisovan Y chromosomes with H. sapiens Y chromosomes was observed.
Researchers at Duke University have identified a potential new drug candidate against enterovirus 71, a common cause of severe hand, foot and mouth disease. The small molecule inhibits the virus's RNA structure, blocking replication and potentially offering a new treatment option.
University at Buffalo biophysicist Priya Banerjee is investigating protein-RNA condensates, which play vital roles in cellular processes and certain human diseases. The research aims to understand the molecular forces governing their composition and behavior.
A genome-wide association study has identified genetic markers associated with a higher risk of developing capecitabine-induced hand-foot syndrome. The study found that patients with low levels of R-cadherin and involucrin were more likely to experience severe skin symptoms.
A new study found that humans exhibit slower epigenetic aging than chimpanzees, with certain DNA sites gaining or losing chemical tags in a clock-like pattern. The researchers analyzed over 850,000 DNA sites in blood samples from 83 chimpanzees aged 1 to 59 and found that aging leaves its mark on the chimpanzee genome, similar to humans.
Recent studies in human genetics reveal insights into transcriptional regulation, gene expression, and mutation's role in shaping the human genome. These findings have important implications for understanding human health and disease, with applications in fields such as medicine and evolutionary biology.
A study investigating SARS-CoV-2 infections on 16 Dutch mink farms found evidence of zoonotic transmission, where the virus jumped between people and minks. The study revealed that over 66% of farm workers had SARS-CoV-2 infection, suggesting direct contact with infected minks was a primary mode of transmission.
The segmentation clock, which governs embryonic body pattern formation, progresses more slowly in humans than in mice. Human cells exhibit slower degradation rates and longer transcription/translation times for the HES7 protein.
The GTEx project reveals population-specific and sex-specific differences in gene expression that can inform how gene variants impact aging and disease. The findings highlight the importance of accounting for sex differences and individual variation in future studies.
Bioengineers at UC San Diego have discovered a new type of membrane-associated extracellular RNA, or maxRNA, that is present on the surface of human cells. This finding suggests a more expanded role for RNA in cell-to-cell and cell-to-environment interactions than previously thought.
Researchers at University of California San Diego use artificial intelligence to identify a DNA activation code called the downstream core promoter region (DPR) that's used as frequently as the TATA box in humans. The discovery could be used to control gene activation in biotechnology and biomedical applications.
Researchers created a comprehensive single-cell transcriptome atlas of the human retina's aging process. The study reveals regional and cell-type specific differences in gene expression associated with various age-related diseases.
A study published in Cell Reports identifies new possible entry points for SARS-CoV-2 into human bodies, including the nasal mucosa and potential hotspots such as the intestine and kidneys. The research provides insights into cellular factors that could contribute to the virus's spread and suggests promising candidates for therapies.
A meta-analysis of NHP studies reveals that AAV gene therapy often causes DRG pathology with no clinical effects, prompting preclinical safety evaluations before clinical trials. The study's findings have the potential to streamline the development process for new vectors.
Researchers genetically rewired yeast cells to manufacture tropane alkaloids, a family of chemical compounds used in traditional medicine for centuries. The breakthrough could provide new sources for plant-based medicines, addressing global shortages and supply chain disruptions.
Researchers developed a lethal mouse model for SARS-CoV-2 by infecting genetically engineered K18-hACE2 mice with the virus. The study reveals acute disease symptoms and fatal outcomes in these mice, providing a valuable platform for medical countermeasure development.
A team of researchers at Children's Hospital of Philadelphia used new computational methods to link characteristic presentations of childhood epilepsies with specific genetic variants. They analyzed clinical information and large-scale genomic data, finding associations between 11 genetic causes and specific symptoms.
Researchers found that women's reproductive secretions have a stronger effect on sperm performance in HLA dissimilar male-female combinations, indicating post-mating sexual selection. The study suggests that fertilization capability is dependent on immunogenetic compatibility between partners.
Researchers developed novel variants of adeno-associated viral (AAV) capsids with improved transduction properties in the mouse retina and cornea. The efficient gene delivery of these variants was confirmed in non-human primate tissue, adding to their potential use in treating human ocular diseases.
Researchers sequenced ancient DNA from 14 woolly rhinoceroses and found that the species remained stable and diverse until temperatures rose too high for them, leading to extinction around 18,500 years ago. Genetic mutations helped the animals adapt to colder weather, but climate change ultimately contributed to their demise.
Researchers at UC Davis aim to create humanized mice by replacing mouse ACE2 with human ACE2 using CRISPR-Cas9 technology, allowing for the study of COVID-19 disease progression and susceptibility variations.
A new algorithm reveals evidence of interbreeding between ancient humans and their relatives, with some humans carrying DNA from an unknown archaic ancestor. The study suggests that genetic exchange occurred frequently among overlapping groups.
Researchers discovered an alternative splicing mechanism enabling parasites to thrive in the human gut's low oxygen environment. The unique enzyme variant allows for anaerobic metabolism, raising hopes for targeted treatments that are safe for humans.
Researchers studying cichlid fishes aim to understand genetic mechanisms controlling facial development, which may also apply to humans. The study's findings could help determine if certain medications prescribed for human diseases might cause facial malformations in unborn babies.
A multidisciplinary team from UTMB discovered a Zika virus mutation that may have contributed to the 2015/2016 epidemic and microcephaly cases. The study found that this mutation enhances mother-to-baby transmission, neurological disease, and lethality in newborn mice.
The ENCODE project has completed Phase 3, providing insights into the human and mouse genomes' functional elements. The study identifies over 900,000 candidate regulatory elements from the human genome, shedding light on cancer biology and other topics.
Researchers successfully expressed and purified recombinant human coagulation factor XIIIa in Pichia pastoris, demonstrating biological activity. This expression system offers an efficient way to produce FXIIIa for further studies and potential large-scale production.
A research team led by Sika Zheng identifies a mechanism that prevents death of neurons, which is triggered at neuron birth and is crucial for maintaining neural circuit integrity. The study challenges the notion that neuronal survival is determined extrinsically.
A new international study has found evidence of stone tools dating back at least 30,000 years to the first human immigration to America. The discovery was made in a Mexican mountain cave and pushes the estimated arrival time back by approximately 15,000 years.
The discovery of Chiquihuite Cave in northern Mexico challenges the long-held theory that the Clovis people were the first human inhabitants of the Americas. The site dates back to 25,000-30,000 years ago, revealing a new narrative on the colonization of the Americas.
Researchers have comprehensively described the human tissue virome atlas using next-generation sequencing technology. They detected 39 viral species in somatic tissues from 547 individuals and found associations between virus infection and human gene expression and disease onset.
Scientists have tracked quadruple helix DNA formation in living human cells for the first time, allowing them to see how it works and its possible role in cancer. The discovery could reveal new targets for drugs that interrupt gene expression, a fundamental process in gene regulation.