Articles tagged with Human Genomes
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 a gene, CDAN1, associated with CDA-1, a rare form of anemia. The study, involving 45 Bedouin patients, suggests the gene's protein plays a crucial role in blood cell maturation and may lead to new treatments.
The genome of Ciona intestinalis, a closely related sea squirt to vertebrates, is providing clues about the origins of complex biological systems in humans. The study found similarities between Ciona and human genomes, including genes involved in immune systems and heart formation.
The new mouse genome sequence comparison offers a consensus view of the mouse genome, helping researchers understand human genes and their role in diseases. The study's findings have significant implications for improving diagnostic tests and treatments for human diseases.
Researchers at UCSD estimate that many evolutionary genome rearrangements accounted for differences between human and mouse genomes. The study found over 245 major and 3,170 micro-rearrangements, revealing significant evolutionary distance between the two species.
The completed mouse genome provides a powerful research tool to extract meaning from the human genome sequence. It allows scientists to recognize functionally important regions in the human genome by virtue of their conservation through evolution.
Researchers developed a mouse model to study L1 retrotransposition, a process that can cause mutations in genes. The study found that the mouse model mimics human L1 behavior and could aid in understanding how genes function and potentially lead to genetic therapies.
A Rutgers-led consortium has received $6.5 million in funding from the NIH to determine the three-dimensional structure of hundreds of new proteins. The project aims to make protein structure determination less expensive and develop new techniques.
The HapMap project aims to chart genetic variation within the human genome by comparing differences among individuals. Researchers hope to create a tool to detect genetic contributions to many diseases, improving drug design and diagnostic tools.
The new guide aims to overcome barriers for researchers to access and effectively use the wealth of freely available human genomic data. The NHGRI team provides practical instructions for searching and analyzing genomic data using major genome portals, such as Map Viewer, Genome Browser, and Ensembl.
Rutgers University has been awarded $4.3 million by the NSF for the Maize Genome Sequencing Project, which aims to sequence the maize genome and understand its complex genetic structure. The project has the potential to improve crop yields and develop new approaches to genomic studies.
A study published in Nature Genetics reveals a gene mutation underlying Amish microcephaly, a birth defect marked by a small head and brain size. The researchers found that the defect disrupts mitochondrial function, leading to abnormal brain development.
The study found numerous differences among isolates of S. agalactiae, suggesting the pathogen's ability to adapt and emerge as a major human pathogen. The researchers identified genes unique to S. agalactiae that likely play a role in colonization or disease.
The primer series provides a historical background of genetics and the sequencing of the human genome, as well as principles and methods in molecular biology. The authors highlight the potential benefits of the genomic revolution in understanding diseases such as cancer, heart disease, and Alzheimer's disease.
Researchers found HIV integrates into human chromosomes near active genes, which are triggered by the virus itself. This targeting specificity could improve gene therapies by leveraging a retrovirus's efficiency.
The American Sociological Association asserts that measuring race is essential for understanding its role in shaping social definitions, power relationships, and institutional practices. Despite biological research questioning its utility, sociologists argue that racial categories persist and influence daily life.
Scientists found retrotransposons inserting DNA into chromosomes with a high frequency, causing deletions and inversions. The study suggests these elements have been remodeling host genomes more than previously realized, potentially increasing genetic variation.
Researchers have discovered that LINE-1 elements, which make up 17% of human DNA, can cause broad-spectrum mutations by deleting genetic material. In cultured human cancer cells, these elements can delete large segments of DNA, including regions as big as the BRCA1 gene.
The Molecular Sciences Institute (MSI) has been awarded a $15.5 million grant from the National Human Genome Research Institute to develop computer models of cellular signaling, aiming to predict intra-cellular signaling and enable more precise targeted treatments for diseases.
The CEGS program supports interdisciplinary research in genomics and its applications in understanding human biology and disease. Two new grants will focus on vertebrate diversity and cell signaling, potentially leading to major insights into genome changes that underlie evolution and human biology.
A new study suggests that a burst of transpositional activity occurred at the same time humans and chimps diverged, implicating retroelements in the emergence of modern humans. The research found that ancient families of HERV elements may retain biological activity over long evolutionary times.
Cancer biologists have successfully identified 21 potential cancer genes that collaborate with p27, a protein found in abnormally low levels in lymphomas and breast cancers. The study reveals new insights into the cellular pathways that distinguish one type of cancer from another.
Comparing the pufferfish genome to the human genome revealed nearly 1,000 previously unidentified human genes, shedding light on gene regulation and function in the human body. The study highlights similarities and differences between vertebrates and finned fish, providing insights into the evolution of human biology.
Researchers at McGill University have made a significant breakthrough in profiling the yeast genome, creating a comprehensive scale for genetic manipulation. This achievement could ultimately lead to the discovery of better drugs for treating human diseases, including certain forms of cancer.
Research suggests that the human immune system's complexity may be limiting the number of genes in the genome, as it requires more self-tolerance and kills off too many immune cells if there are too many genes. This could make further evolution for humans difficult.
The new site organizes institute information into seven major categories, including Research, Health, and Careers. NHGRI's commitment to ELSI and educational resources make it a valuable resource for the public and professionals.
Scientists discovered that some human LINE-1 elements, known as junk DNA, can jump into chromosomes with broken strands and repair the damage. This finding raises questions about the potential benefits of these ancient genetic elements to human cells.
Yeung's contribution to the Humane Genome Project in the early 1990s helped turn it into a complete database in less than 10 years. He developed methods to miniaturize capillary electrophoresis, allowing for faster identification speeds and higher electric fields.
Researchers from the University of Washington and China have sequenced the genetic code for rice, revealing it may have more genes than humans. The complete genome sequence is now available to the public, providing valuable information for scientific research and potentially leading to improved crop yields.
Researchers at The Wistar Institute discovered that the Epstein-Barr virus (EBV) uses a telomere-like system to survive within its host cells. This finding has significant implications for treating EBV-associated cancers, as inhibiting this mechanism could potentially inhibit tumor cell growth.
The University of Michigan has launched a new Center for Genomics and Public Health, which aims to narrow the gap between genomics and public health practice. The center will examine population-based data to describe genes associated with cardiovascular disease and understand their interaction with other risk factors.
Researchers found that about 25% of genes in fruit flies are evolving rapidly in response to competitive pressures, contradicting the neutral theory. In humans, around 35% of accumulated changes are 'good,' contributing to disease resistance and sexual reproduction, highlighting the ongoing role of natural selection.
Researchers at Dana-Farber Cancer Institute have developed a method for detecting unknown microorganisms in human tissue, leveraging DNA sequencing data. The technique, called computational subtraction, has shown promise in identifying novel infectious agents in mysterious chronic diseases.
A new computer program, First Exon Finder, has been developed to detect overlooked gene segments in the human genome. The program identifies non-coding first exons, which are essential components of gene structure and function.
A new analysis method developed by Johns Hopkins Medicine allows for faster and more accurate determination of the human genome sequence. The technique identifies highly reliable data points within microarray sequences, enabling researchers to examine genetic variations linked to diseases such as high blood pressure and schizophrenia.
The symposium explores the effects of genetics research on social organization, human nature, and what it means to be human. Experts discuss race, ethnicity, genes, and human potential, with a focus on values, ethics, and social impact.
The Fugu genome project has sequenced the entire genome of pufferfish using a whole-genome shotgun strategy, revealing approximately 365 million bases of genetic material. This will aid in identifying genes and regulatory sequences in the human genome, offering new insights into its structure.
Researchers found that destroying two controller proteins restricts DNA replication to a single copy, maintaining genome integrity. Cells with mutant proteins produce excessive DNA, reflecting the importance of these proteins in controlling genome duplication.
The NHGRI awarded Yale University a $15 million grant to develop new genomic approaches and understand the regulation of hundreds or thousands of genes. The team aims to elucidate the functions of unknown DNA regions in the human genome.
Researchers at Whitehead Institute identify a new gene, IBD5, on chromosome 5 that increases susceptibility to Crohn's disease. The study provides a strong case for building a haplotype map of the human genome, which could make finding disease-causing genes faster and cheaper.
A new analytical platform has been developed to rapidly identify and characterize proteins. The system uses Fourier-Transform Mass Spectrometry and a liquid-helium cooled superconducting magnet to analyze protein data, enabling efficient processing of multiple proteins simultaneously.
The University of Washington has received grants for two genomic research centers, led by Deirdre Meldrum and Maynard Olson, respectively. These centers aim to develop new research tools and approaches to understand the human genome, with potential applications in disease diagnosis and treatment.
A Rutgers computer research team is developing a genetic linkage map that may help scientists identify the DNA differences predisposing people to complex diseases. The map will analyze data from over 2,000 single nucleotide polymorphisms (SNPs) to track genes contributing to disease.
Researchers from Israel and abroad identified the genetic mutation causing Hereditary Inclusion Body Myopathy (HIBM), a degenerative muscle disease affecting Jews of Persian descent. The mutations affect an enzyme crucial for protein synthesis, leading to muscle degeneration.
The first public human genome sequence was successfully assembled using GigAssembler, a computer program developed by James Kent and David Haussler. The program utilized a greedy algorithm to assemble nearly 400,000 DNA sequence pieces, resulting in an 88% complete draft.
Researchers have confirmed an estimated 30,000 human genes using a comparative analysis of human chromosome 19 with similar sections of mouse DNA. The study found over 300 additional human genes and confirmed the existence of other computer-predicted genes.
The Ohio State genome map contains 66,000 genes, which is more than double the earlier estimates of 35,000 genes. The map provides annotations that explain the function of all genes, including tissue-specific genes that are active in some tissues but not others.
The Human Genome project has a limited representation of global genetic diversity due to an inadequate sample size from sub-Saharan Africa. This exclusion ignores the worldwide genetic variation and evolutionary history of the human species, according to anthropologist Todd R Disotell.
Researchers compare a large imprinted region in the human genome with its counterpart in the mouse genome, identifying crucial genetic elements that control gene activity. The study provides the first global view of an entire imprinted region in any genome, shedding light on mechanisms of genomic imprinting.
Scientists have embarked on a collaborative effort to sequence the Fugu fish genome, offering valuable insights for identifying genes in the human genome. The project aims to utilize the Fugu genome's compact size and minimal 'junk DNA' to facilitate gene discovery.
The NHLBI launched a $37 million genomic applications initiative to identify human genes relevant to heart, lung, blood, and sleep functions. The program aims to decipher individual gene functions and develop better prevention, diagnosis, and therapy methods.
BLYS, a protein that stimulates antibody production, is being tested in patients with CVID. The trial aims to determine the efficacy of BLyS in producing antibodies and warding off infections.
DoubleTwist has completed the first annotation of the human genome, revealing genes and valuable information. The analysis used Sun Enterprise supercomputers and DoubleTwist's proprietary genomic analysis software to process all available sequence data.
Researchers have located 67 gene regions in hypertensive rats that are also linked to high blood pressure in humans. This study uses a genome-wide approach to pinpoint the exact genes involved in human hypertension, accelerating the search for potential treatments.
The decoded genetic information contains an estimated 10-15,000 genes linked to diseases such as kidney disease, cancer, and hypertension. Researchers can now mine this data for advances in basic understanding of life and applications like diagnosing and treating diseases.
The Drosophila genome sequence completion reveals nearly two-thirds of genes known to cause human disease are present in the genome. This achievement demonstrates the value of basic research using Drosophila in combating human disease.
Renowned scientist J. Craig Venter will discuss his work on decoding the human genome at the American Chemical Society meeting. He co-founded Celera Genomics to sequence the entire human genome by 2001 and is this year's honoree for the David Perlman Memorial Lectureship.
Scientists are using bioinformatics to analyze the vast amounts of data from the Human Genome Project, identifying genes and understanding their functions. The development of effective computational techniques is crucial for tackling this complex task.
Dr. Julie R. Korenberg's comprehensive map integrates three ways of looking at the human genome, marking critical points with fluorescent signposts for rapid translation of clinical problems into genome-based solutions. The guide has significant practical applications in cancer treatment and genetic diagnosis.
A team of scientists has developed a method to identify common human single nucleotide polymorphisms (SNPs) located in active genes. By comparing sequences from cDNA libraries across 50 individuals, they found 201 coding SNPs that could provide valuable insights into genetic differences between people.
Researchers have identified 109 mariner elements in the human genome, which may contribute to genetic disorders such as Charcot-Marie-Tooth disease and hereditary neuropathy. The study's findings suggest that mariner transposons could be a hotspot for genetic change and error.