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 recent study reveals that ORC2 subunit regulates epigenetics and gene expression by compacting chromatin and attracting repressive histone marks at some sites, but activating gene expression at others. This regulation also prevents CTCF binding at certain sites, leading to changes in chromatin structure and gene expression.
An international team reconstructs the genetic interactions of populations in the Southern Caucasus over time, showing a mostly constant ancestry profile. Evidence of migration from neighboring regions is also found, with notable instances of cultural adoption and genealogical links to Central Eurasian Steppe populations.
Researchers at Harvard Medical School found that lithium loss in the brain is an early change leading to Alzheimer's, while a novel lithium compound can reverse memory in mice. The study suggests a new theory of the disease and a potential strategy for diagnosis and treatment.
A new study found that kids of obese parents are more likely to have obesity due to inheriting related genes. The study suggests that a mother's BMI may be particularly important in determining a child's weight, both through direct genetic inheritance and indirect nurture effects.
A new study found that mothers' genetics may have a greater impact on their children's weight than previously thought. Researchers analyzed genetic and health data from over 2,600 UK families to examine the association between parental BMI and child birthweight, BMI, and diet.
Researchers at Salk Institute launched a machine learning framework called ShortStop to explore overlooked DNA regions and discover microproteins with potential roles in disease. The tool identified 210 new microprotein candidates in lung cancer data, including one validated target for therapeutic treatment.
Researchers uncover more clues about the risk conferred by variants in the MUTYH gene, which can cause abnormal growths and increase colon cancer risk. The study's high-throughput functional analysis method accurately sorts variants into functional and non-functional categories.
A new study by University of South Australia researchers uses genetic recall to explore links between multiple sclerosis (MS) and the Epstein-Barr virus. The study aims to identify early warning signs or biomarkers for MS, enabling early detection and intervention.
The American Society of Human Genetics recognizes Dr. Harry Dietz for his work on Marfan Syndrome, Dr. Eric Green for his leadership in advancing human genetics and genomics, Dr. Mike Talkowski for his pioneering contributions to cytogenetics and genomic medicine, and Dr. Elizabeth Bhoj for her extensive work in translational genetics.
Researchers from RIKEN have discovered that Japanese people's responses to alcohol can be divided into three clear clusters based on genetic analysis and experiments. These clusters are associated with specific combinations of gene variations, including ALDH2 and ADH1B, which can help identify individuals at risk for alcohol-related di...
A large Danish study shows that children with a high genetic risk for ADHD are more likely to experience severe neglect and childhood maltreatment. This risk is also influenced by parental mental illness, with girls generally exposed to more maltreatment than boys.
Researchers identify two human brain genes that contribute to brain size and synapse signaling in zebrafish, providing a roadmap for discovering more genes. The study's findings have significant implications for understanding language disorders and autism.
A recent study identified 37 human-specific genes linked to brain development and cognitive abilities, which are hijacked by cancer to drive tumor growth. The researchers discovered nearly half of these genes become aberrantly activated in cancerous tissues, promoting tumor cell proliferation.
A study of 365 adults found nearly one in four had a genetic condition causing their ICU admission, which was unknown to nearly half of those patients and their doctors. The researchers recommend offering genetic testing to all adults admitted to the ICU to improve care and reduce health disparities.
Researchers identified four distinct groups of autism linked to specific genetic variants and biological processes. The study's person-centered approach analyzing phenotypic and genotypic data from SPARK enabled more precise diagnoses and personalized support.
Researchers have identified a gene signature indicative of hepatic ferroptosis using an iron overload-induced mouse model and validated it in human liver injury systems. The study highlights the role of ferroptosis in liver injuries and offers potential therapeutic targets.
A new study from the University of Bath found that individuals with a higher IQ make more realistic predictions, leading to improved life outcomes. Smarter people are significantly better at forecasting, making fewer errors and showing more consistent judgement compared to those with a lower IQ.
A comprehensive analysis of 2,762 Indian genomes reveals a complex history of genetic mixing, endogamy, and population bottlenecks that shaped the country's genetic variation, health, and disease. The study found that most genetic variation in India can be explained by a single migration out of Africa about 50,000 years ago.
Researchers have identified a previously unknown organelle called the hemifusome that plays a crucial role in cellular sorting and recycling. This discovery could lead to targeted treatments for complex genetic disorders like Hermansky-Pudlak syndrome, which affects multiple systems in the body.
Researchers discover vitamin C promotes epidermal thickening by reactivating genes essential for skin cell growth, suggesting a promising treatment for thinning skin in older adults. Vitamin C supports active DNA demethylation by sustaining TET enzyme activity.
The new resource provides a detailed map of blood regulatory variation in South Africans, enabling researchers to interpret genetic variations using genome-wide association studies (GWAS). This innovation has the potential to uncover why people from specific genetic backgrounds may be more susceptible to certain diseases.
Researchers at UCLA have discovered a chromatin-based strategy that enables cells to rapidly produce proteins when nutrients are scarce. This 'priming' mechanism, driven by the MYC gene, allows cancer cells to adapt and survive under metabolic stress.
Researchers at University of Otago have identified a genetic cause for a rare developmental disorder affecting brain growth and function in children. The study found that a specific change in the CRNKL1 gene is associated with severe microcephaly, pontocerebellar hypoplasia, seizures, and intellectual disability.
Researchers identified genetic factors linked to environmental sensitivity in identical twins, influencing ADHD symptoms, autistic traits, anxiety and depression symptoms, psychotic experiences, and neuroticism. The study highlights the importance of gene-environment interactions in shaping mental health.
A new study using NIH's All of Us Research Program data finds that people from the same reported racial or ethnic group can have wide ranges of genetic differences. Genetic ancestry is more complex than self-reported race and ethnicity, with significant associations between ancestry and biological traits like BMI and height.
A new study combines ancient DNA with dietary evidence and linguistics to paint a vivid picture of pre-colonial coastal communities in Papua New Guinea. The research highlights the influence of migrations and interactions on genetic makeup, supporting previous studies on the settlement of remote islands.
A new AI tool developed by University of Missouri researchers can predict the 3D shape of chromosomes inside individual cells, providing a new view of how genes work. The tool helps identify unique differences in chromosome folding between cells, which controls gene activity and can lead to diseases like cancer.
As women age, more genes on their X chromosomes escape silencing, potentially influencing disease. This epigenetic change may explain sex-based differences in age-related diseases.
ADHD researcher Barbara Franke's work transforms understanding of neurodevelopmental disorders through innovative molecular approaches. Her research combines cutting-edge bioinformatics with experimental models to identify genes and pathways underlying behavioral differences.
A genetic variant of ACSF3 has been identified as contributing to the co-evolution of increased human height and basal metabolic rate. This variant is found in humans but not in non-human primates, suggesting a link to the dietary shift towards meat consumption that occurred during modern human evolution.
A recent epigenetic study identified RABGGTB as a promising biomarker for autism spectrum disorder, revealing extensive DNA methylation abnormalities in key brain regions. The findings suggest that studying this gene could unlock new doors to understanding ASD and lead to future diagnostic breakthroughs.
A large-scale genomic analysis reveals Brazil as one of the most genetically diverse countries on Earth, shaped by centuries of colonization and Indigenous heritage. Researchers uncovered over 8.7 million previously undocumented genetic variants, including those potentially affecting population health.
A large genomic study reveals distinct ancestry patterns and early diversification of Indigenous South American populations. The study suggests northern and southern Native American groups diverged between 17,500 and 14,600 years ago, with human presence in southernmost South America confirmed by 14,500 years ago.
Research reveals that different ancestry groups have varying rates of new genetic mutations passed to children, with African groups showing a higher rate. Additionally, parental age, especially paternal age, significantly impacts the number of new genetic mutations, while parental smoking is linked to a small increase in mutation count.
Researchers found that only a small fraction of proteins have genetic differences between males and females. Instead, lifestyle, education, and access to resources also contribute to the health gaps experienced by men and women.
Researchers from Mass General Brigham introduce a data-driven approach to prioritizing genes for public health consideration in newborn genomic sequencing programs. The model achieves high accuracy in predicting gene selection across programs, providing a ranked list of genes that can adapt to new evidence and regional needs.
A novel gene variant in Finns significantly increases the risk of Alzheimer's disease, affecting microglia function and leading to an earlier onset of the disease. The study provides valuable information for developing treatments and highlights the importance of translational research.
A predictive model combining tumor marker readings with patients' genetic profiles enhances predictions for patient survival and surgery decision-making. The new tool accurately identifies candidates who would benefit from surgery, suggesting that current tumor marker evaluations are inadequate for these genetic profiles.
The treatment demonstrated early signals of efficacy, with 65.7% of patients experiencing lasting stable disease, and was generally well-tolerated, with most adverse events being mild and manageable.
A team of researchers has comprehensively predicted the location of non-B DNA structures in great apes using newly available telomere-to-telomere genomes. The study suggests that non-B DNA is enriched in these segments and may play a role in genetic diseases and cancer, with potential new functions discovered.
The study reveals that Phoenician culture spread primarily through cultural transmission and assimilation, with little direct genetic contribution from Levantine ancestors. Punic sites showcased a highly heterogeneous genetic profile, with individuals having both Sicilian-Aegean and North African ancestry.
The Mount Sinai Fuster Heart Hospital cardiology faculty practice has received the 2024 Human Experience Pinnacle of Excellence Award from Press Ganey, a leading patient experience organization. The hospital ranks among the top 5% of healthcare providers in delivering patient experience over three years.
A combined study on human pelvis morphology reveals genetic links between pelvic structure and function, locomotion, and childbirth outcomes. The findings suggest that the transition to bipedalism led to a balance of competing demands, resulting in shorter and wider pelvic shapes.
A study from Michigan Medicine researchers reveals that X-carrying and Y-carrying sperm compete for binding to Spindlins, influencing gene expression and the sex ratio. The findings suggest that this competition is crucial for maintaining the optimal balance of female and male offspring in mice.
A new study deciphers ancient DNA from the Green Sahara, providing critical insights into the African Humid Period and its impact on human migration. The research reveals a unique genetic lineage that remained isolated for thousands of years, highlighting North Africa's heritage.
A genetic twin study found that music enjoyment is partly heritable, with distinct genetic pathways influencing different aspects of music pleasure. The researchers discovered that DNA differences contribute to various facets of music enjoyment, such as emotion regulation and musical ability.
A study of human-specific genes reveals their crucial role in brain development, providing new insights into the evolutionary origins of the human brain. The research highlights the importance of these genes in determining brain complexity and size.
A new study finds that Canada is the slowest country to report genetic information about bird flu, with an average time of 618 days. However, the same researchers note that Canada was able to improve its response to COVID-19, highlighting the need for similar urgency in addressing this public health threat.
Dr. Consuelo Walss-Bass shares her groundbreaking research on schizophrenia, emphasizing the importance of considering both genetic predisposition and environmental factors. She also discusses her work with induced pluripotent stem cells to develop personalized psychiatry and reduce stigma around mental health.
A new genomic analysis suggests that human language capacity emerged at least 135,000 years ago, with regional groups spreading across the globe around 100,000 years after that. The study, which examined 15 genetic studies, provides increasingly converging evidence about the timing of geographic splits among early human populations.
Researchers found that selfish genes use self-assembly properties to harm cells, with aggregate size and distribution being key factors in toxicity. The study also reveals an evolutionary arms race between sabotage and salvation, where rapid evolution of 'selfish' genes can lead to their own destruction.
Genetic changes triggered by environmental factors like pollution, diet, and stress can increase cancer risk. Nearly everyone is exposed to cancer risk factors daily, highlighting the need for public awareness and policy action to reduce exposure.
Researchers found that dogs carrying the genetic variant DENND1B had higher body fat content, while humans also carry this gene linked to obesity. The study highlights the importance of fundamental brain pathways in regulating appetite and body weight.
A new study highlights the need for more diversity in genomics research, as a commonly found gene variant was mistakenly linked to heart disease in people from Oceanian communities. The researchers found that the variant is actually common among healthy individuals from these regions.
Dr. Guy Rouleau, a renowned geneticist and neurologist, has founded the world's first academic institution committed to open science principles. The Neuro institute aims to transform how brain disease research is conducted worldwide by promoting data sharing and collaboration.
A new study discovered that violence can alter human genes for generations, even in grandchildren who never experienced violence themselves. Researchers found epigenetic changes in the genomes of Syrian families affected by the Hama massacre and subsequent civil war.
A new study published in Microorganisms explores the impact of starch on oral health and finds that high AMY1 copy numbers alter the oral microbiome, increasing disease risk. The researchers discovered that populations with a history of agriculture and starch consumption have more copies of the gene, which provides a survival advantage.
A new study found that Neanderthals experienced a drastic loss of genetic variation approximately 110,000 years ago, leading to their eventual extinction. The research measured the morphological diversity in semicircular canals, which revealed lower diversity in classic Neanderthals compared to pre-Neanderthals and early Neanderthals.
An international team led by IU School of Medicine has discovered a novel gene associated with an ultrarare neurodevelopmental disorder. The breakthrough was made using cutting-edge genomic technologies and enabled the diagnosis of a patient at Riley Hospital for Children's Undiagnosed Rare Disease Clinic.
A new study published in Nature Medicine reveals that lifestyle and environmental factors, such as smoking and physical activity, have a profound impact on health and premature death. The research suggests that targeting socioeconomic conditions, reducing smoking, and promoting physical activity can mitigate the risks of chronic diseases.