The National Human Genome Research Institute has awarded $54 million to three Centers of Excellence in Genomic Science over five years. These grants will support innovative research projects at the University of Washington, Yale University, and California Institute of Technology.
A large NIH-supported study provides the clearest picture yet of the prevalence of BRCA1 and BRCA2 gene mutations in the US population. The researchers found that 2.4% of breast cancer patients had BRCA1 mutations, while African American women were more likely to have BRCA2 mutations.
A new screening approach can accurately profile compounds in large chemical libraries, speeding the production of data for biological activities and identifying potential drug targets. This advance enables a more complete pharmacological characterization of compounds than traditional methods.
The NHGRI has announced new sequencing targets, including the Northern white-cheeked gibbon genome, to gain insights into human health and disease. The gibbon genome is unique due to its high number of chromosome rearrangements and segmental duplications.
A study found that alterations in the glucocerebrosidase (GBA) gene contribute to dementia with Lewy bodies (DLB), a common neurodegenerative disease. Researchers sequenced DNA from autopsy samples and identified mutations in the GBA gene in nearly 40% of DLB patients.
The NIH has launched an effort to make more knockout mouse models widely accessible to the biomedical research community. The initiative aims to deposit existing knockout mouse lines into public repositories, increasing their availability and accelerating the development of new strategies for understanding and treating human disease.
A new study suggests that a defective skin barrier can trigger immune reactions and lead to conditions like psoriasis and eczema. By creating a temporary artificial barrier, researchers hope to break the cycle of inflammation and find more effective treatments.
The National Human Genome Research Institute is implementing a comprehensive strategy to identify structural variations in the human genome and sequence mammalian genomes. The effort aims to build a powerful toolbox for advancing human health by filling gaps in knowledge.
The US Surgeon General has launched a new, free, Web-based tool called My Family Health Portrait to help Spanish-speaking families organize their health histories. The tool provides a graphic printout that organizes information into a diagram or chart, which can be shared with healthcare professionals.
The rhesus macaque genome shares about 92-95% of its sequence with humans and 98% with chimpanzees, making it an ideal reference point for comparisons among the three closely related primates. The available genome sequence will facilitate studies in human disease research, vaccine development, and comparative genomic analysis.
The NIH has launched two initiatives to identify the genetic and environmental underpinnings of common illnesses. The Genes and Environment Initiative will combine genetic analysis and environmental technology development, while a public-private partnership called GAIN will accelerate genome association studies with $5 million from Pfi...
The NIH has launched a three-year, $100 million pilot project to explore cancer genomics through The Cancer Genome Atlas (TCGA) Pilot Project. This initiative aims to create a systematic framework for identifying and characterizing genetic mutations and genomic changes associated with cancer.
The published dog genome sequence offers insights into genetic factors contributing to human health and disease. The analysis revealed that dogs share common genetic elements with humans and mice, highlighting the importance of understanding the evolution of genomes.
A team of experts, including those from the NIH and the US Department of Justice, identified 850 of the 2,749 reported missing after the 9/11 attacks using DNA analysis. The panel's recommendations include improving forensic DNA typing systems and designing processes to test novel identification procedures.
The Human HapMap project provides a powerful tool for exploring the root causes of common diseases. By mapping genetic variation across the entire genome, researchers can identify genetic contributions to diseases such as diabetes, cancer, and Alzheimer's disease more efficiently.
The NHGRI network will focus on medical sequencing projects targeting dozens of rare single-gene disorders and genes contributing to common diseases like heart failure and diabetes. By analyzing genomic variations in hundreds of individuals, researchers hope to uncover new insights into human health and disease.
The NIH has secured contracts with Deltagen Inc. and Lexicon Genetics Incorporated to provide researchers with extensively characterized lines of knockout mice, featuring disrupted genes. This comprehensive resource will greatly accelerate efforts to explore gene functions in health and disease.
The study found that the human and chimp genomes are almost 99% identical in terms of directly comparable DNA sequences. At the protein level, 29% of genes code for the same amino sequences in both species.
A study published in PNAS suggests that farnesyltransferase inhibitors (FTIs) may reverse nuclear structure abnormalities in progeria cells. Researchers treated progerin-carrying skin cells with FTIs, reducing cell blebbing and improving cellular function.
The National Human Genome Research Institute is expanding its efforts to develop faster and cheaper DNA sequencing technologies. The goal is to lower the cost of sequencing a mammalian-sized genome to $100,000 and eventually cut it to $1,000 or less, enabling routine medical care and personalized diagnosis.
A team of scientists compared the genomes of eight mammalian species, finding that chromosomes tend to break in the same places as species evolve. This discovery has implications for understanding human disease and cancer, which are often linked to chromosomal translocations.
The National Human Genome Research Institute (NHGRI) has selected 13 new targets for a large-scale sequencing program, including mammals and non-mammalian organisms. The program aims to gain insights into the biological processes at work in human health and illness by comparing genomes across species.
Researchers confirm the existence of protein-coding genes on chromosomes 2 and 4, with chromosome 2 home to the longest known gene. The study also identifies the largest 'gene deserts' in the human genome sequence, raising possibilities for studying genome evolution.
Researchers have sequenced the complete DNA sequence of the human X chromosome, confirming 1,098 protein-coding genes. The study found that the X chromosome holds a prominent place in studying human disease, with over 300 diseases mapped to it, including Mendelian disorders like red-green color blindness and hemophilia.
The NHGRI has approved a plan to sequence the genomes of 12 new organisms, including marmoset, skate, and disease-carrying insects, to gain insights into human health and disease. The project aims to identify genetic variations associated with common illnesses and develop powerful tools for biomedical research.
The new test can identify babies born with Severe Combined Immunodeficiency (SCID), a life-threatening illness, early on, allowing for effective treatment. The test uses dried blood samples from newborns, providing the first accurate and high-throughput screen for immune deficiencies.
The chicken genome contains approximately 20,000-23,000 genes, less than the human genome's 20,000-25,000 genes. Researchers found that about 60% of chicken genes correspond to similar human genes.
The ENCODE project aims to build a comprehensive 'parts list' of human DNA's sequence-based functional elements, including protein-coding genes and regulatory elements. The initiative will analyze the remaining 99% of the human genome using novel methods and technologies.
The International Human Genome Sequencing Consortium has completed the human genome sequence, confirming 19,599 protein-coding genes and identifying 2,188 potential protein-coding genes. The finished sequence covers over 99% of the euchromatic portion with an error rate of 1 base per 100,000 base pairs.
The first draft of the bovine genome sequence has been deposited into free public databases, making it available for researchers to study and analyze. The completed genome will aid in medical breakthroughs, disease management, and nutritional enhancement of beef and dairy products.
The NHGRI has launched four centers to pioneer interdisciplinary research on the ethical, legal and social implications of genomic knowledge. The centers will assemble teams of experts to develop innovative approaches to addressing pressing issues in genome research.
A study by the Genetic Epidemiology of Lung Cancer Consortium (GELCC) found strong evidence for a lung cancer susceptibility gene co-inherited with a genetic marker on chromosome 6. The researchers identified a region of interest on chromosome 6q23-25, which contains multiple genes that may contribute to lung cancer risk.
Researchers have completed a high-quality draft sequence of the laboratory rat genome, which will facilitate studies on cardiovascular diseases, psychiatric disorders, and cancer. The comparison of the rat genome with that of humans and mice will provide insight into biological differences and evolution.
Researchers identified four genetic variants strongly associated with type 2 diabetes in Finnish and Ashkenazi Jewish populations. The variants cluster in the regulatory region of the HNF4A gene, influencing insulin secretion in response to glucose.
Researchers at Washington University School of Medicine have successfully assembled the chicken genome, providing a comprehensive resource for scientists worldwide. The draft assembly is based on seven-fold sequence coverage and has been deposited into public databases for free access.
Researchers have successfully produced transgenic zebrafish using cultured sperm cells grown in laboratory conditions, enabling the study of human development and disease. The new technique also holds promise for pre-fertilization strategies in human gene therapy, potentially leading to preventive treatment for certain genetic disorders.
The honey bee genome has been assembled through a team-led effort by the NIH/National Human Genome Research Institute. With approximately 300 million DNA base pairs, it is one-tenth the size of the human genome. Researchers aim to compare the genome with other organisms to understand genes and regulatory regions within DNA.
The International HapMap Consortium has outlined its policies for rapidly releasing human genetic variation data to researchers worldwide. The $120 million project aims to create a public resource map of common human genetic patterns, facilitating the discovery of genes associated with diseases and response to medicines.
The new Social and Behavioral Research Branch (SBRB) at NHGRI will focus on translating genomic discoveries into medical care and public health interventions. The SBRB's research portfolio will encompass four conceptual domains, including testing communications strategies and developing interventions aimed at reducing genetic risk.
The NHGRI Large-Scale Sequencing Research Network will sequence a strategic set of animal genomes totaling 54 billion base pairs. The centers aim to produce high-quality assembled genome sequences that researchers can use to address human biology and human health.
The ENCODE project aims to build a comprehensive 'parts list' of the human genome by identifying and precisely locating all functional elements. Researchers will use high-throughput methods to analyze large-scale DNA target regions, leading to a deeper understanding of human biology and new strategies for preventing and treating disease.
Researchers compared genomic regions in 13 vertebrate species, including humans and zebrafish, to identify conserved non-coding sequences with biological roles. The study provides insights into the understanding of our own genome and highlights the importance of sequencing multiple species' genomes.
Researchers sequenced 99.4% of gene-containing regions on chromosome 7 with high accuracy, revealing duplicated segments that may contribute to genetic diseases. The analysis also identified approximately 1,150 protein-coding genes, shedding light on the genetic basis of human disease.
A study found that the Y chromosome uses a unique gene conversion mechanism to preserve its genetic integrity, allowing it to maintain functioning genes important for male fertility. The discovery was made possible by high-quality DNA sequences from the Human Genome Project.
Scientists have identified a preference for insertion at the beginning of genes and near actively expressed genes, which may explain why gene therapy patients developed leukemia. The discovery could lead to improved gene therapy techniques that insert genes in less risky areas.
Researchers discovered the GARS gene responsible for Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V, providing insights into neurological diseases. The study may lead to new treatment approaches and a better understanding of peripheral nerve diseases.
Hutchinson-Gilford progeria syndrome affects 1 in 8 million newborns worldwide and is characterized by accelerated aging. The researchers identified a single-letter misspelling in the LMNA gene as the cause of this disorder.
Researchers have identified the Progeria gene, which may lead to answers about natural aging and cardiovascular disease. The discovery gives hope to children with Progeria, who die at an average age of 13 due to complications from accelerated aging.
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.
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.