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219 records returned

Mechanistic Signatures of Drug Responses in CancerEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by applicant): This application proposes a systematic effort to collect and analyze multi-factorial Pharmaco-Response Signatures (PRSs) for 15 therapeutic small molecules across a bank of 80 cancer cells lines for which genomic data is becoming available. The signatures will be used to elucidate response mechanisms, identify specific determinants of drug sensitivity or resistance at the cellular level, and create new response classifiers. PRSs will be based on high dimensionality measurements of phenotypes in single cells collected using high content microscopy supplemented by biochemical and plate-ba...
Source: NHGRI Active Grants - September 30, 2009 Category: Genetics & Stem Cells Source Type: funding

African Diversity and the Genetics of Human HealthEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by applicant): Understanding the genetic and environmental factors influencing phenotypes is central to improving human health. However, most studies of genetic architecture involve populations living in the United States, Europe and Asia. Though large, these population samples capture only a tiny subset of the standing genetic and phenotypic variation in humans. Africa on the other hand contains tremendous phenotypic, cultural, linguistic, genetic and environmental diversity and is the source of the worldwide range expansion of all modern humans in the past 100,000 years. In fact, African populations...
Source: NHGRI Active Grants - September 30, 2009 Category: Genetics & Stem Cells Source Type: funding

New Resources for e-PatientsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by applicant): New Resources for e-Patients addresses the unmet medical needs of consumers who search for health and healthcare information online, currently a population of more than 160 million people in the U.S. It will fill gaps and address deficiencies in currently available online health information resources. It will maximize the value of public domain health information from U.S. Government sources. Textual consumer health information will be collected from NIH, FDA and other government sources. This information will be subjected to automated topic analysis and classification using methods of ...
Source: NHGRI Active Grants - September 30, 2009 Category: Genetics & Stem Cells Source Type: funding

Integrating Patient Generated Family Health History fromEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by the applicant): Abstract: This application addresses broad Challenge Area (10): Information Technology for Processing Health Care Data, and specific Challenge Topic, 10-HG-101: New information technology and resources for disease prevention and personalized medicine. Background: The long established wisdom of including family health history as a key part of an individual's medical record has been invigorated by the new emphasis on personalized medicine. While in the past, family health history was used to understand an individual's disease risk and to focus disease prevention efforts, in 21st centu...
Source: NHGRI Active Grants - September 30, 2009 Category: Genetics & Stem Cells Source Type: funding

A Data Analysis Center for integration of fly and worm mEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by applicant): The aims of the ENCODE (Encyclopedia of DNA Elements) and modENCODE (model organism ENCODE) projects are to apply high-throughput, cost-efficient approaches to generate a catalog of functional elements in the human, worm, and fly genomes, which will serve as the basis for biomedical research advances. By their smaller genome size, powerful genetics, and ease of experimentation, D. melanogaster and C. elegans can help guide the study of functional elements in the human genome, reveal new insights into global gene regulation and embryo development, and enable experimental studies of gene ...
Source: NHGRI Active Grants - September 30, 2009 Category: Genetics & Stem Cells Source Type: funding

Development of a semiconductor-based platform for genomiEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by applicant): We propose to develop a novel disposable semiconductor sensor and system able to directly and rapidly read gigabases of de novo sequence. The system is comprehensive, and includes simplified and robust sample preparation technology, and produces data fully compatible with current standards. A new type of semiconductor sensor - an Ion Torrent Chip -has been designed and developed to directly detect polymerization of DNA without the need for ANY intermediate enzymatic reactions, chemiluminescence, fluorescence, optics, optical imaging, or other constraints of having to detect light or use...
Source: NHGRI Active Grants - September 30, 2009 Category: Genetics & Stem Cells Source Type: funding

Direct Single Base-Pair Real-Time DNA Methylation SequenEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by applicant): In this program, we will enable direct DNA methylation profiling during real-time DNA sequencing, without bisulfite conversion. We will accomplish this by tailoring Pacific Biosciences' high throughput Single-Molecule Real-Time (SMRT) DNA sequencing technology for the detection of altered DNA polymerase kinetics due to the presence of 5-methylcytosine (5mC) in the DNA template. In addition, we will develop five-base SMRT sequencing, in which the 5th base indicates the presence of 5mC in the original sample. Our proposed technologies offer several advantages over current methylation prof...
Source: NHGRI Active Grants - September 30, 2009 Category: Genetics & Stem Cells Source Type: funding

Tool for annotation and analyses of human whole-genome sEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by applicant): Abstract Current estimates place the number of personal variants at approximately 4 million per genome. Given the rapid advances in genome sequencing technologies and the future democratization of human genome sequencing, small groups and even individual scientists will soon be performing their own human genome projects. We believe that the ability to automatically annotate the millions of variants that these projects will produce, to combine data from multiple projects, and to recover subsets of annotated variants for diverse downstream analyses will become a critical analysis bottlene...
Source: NHGRI Active Grants - September 30, 2009 Category: Genetics & Stem Cells Source Type: funding

Carbon Nanotubes: A New Synthetic Nanopore for SequencinEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by applicant): Nanopore sequencing offers the possibility of rapid single molecule sequencing with long reads, almost no sample preparation, and direct electronic readout from a small, computer-chip-like device. Nanopores are orifices that are so small that electrophoretic translocation of DNA through them necessarily occurs one base at a time. All nanopores require some means of localizing DNA with atomic precision as well as controlling its speed of translocation through the pore. Here, we introduce an entirely new type of nanopore for the DNA translocation, the single walled carbon nanotube (SWCNT)...
Source: NHGRI Active Grants - September 30, 2009 Category: Genetics & Stem Cells Source Type: funding

Bioassay Ontology and Software Tools to Integrate and AnEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by applicant): Increasingly large and diverse data sets are being generated by publically funded screening centers using various high- and low-throughput screening technologies. Much of this data is accessible. The largest public repository of small molecule screening results is PubChem, currently covering over 1,500 assays for 370,000 compounds. The number of publically available assays is expected to grow more than 10 fold during the next five years. The utility of this invaluable resource is currently limited, because the knowledge contained in complex and diverse bioassay data sets is not formaliz...
Source: NHGRI Active Grants - September 30, 2009 Category: Genetics & Stem Cells Source Type: funding

Enhancing ENCODE Through a Transcription Factor TaggingEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by applicant): We propose to use bacterial artificial chromosome (BAC) recombineering to epitope tag 40 transcription factors per year for chromatin immunoprecipitation (ChIP) followed by sequencing to map binding sites genome wide. A major hurdle for the ENCODE project is the availability of ChIP-grade antibodies for each factor to be analyzed. Epitope tagging of chromatin-associated proteins presents an alternative approach for ChIP, using the same epitope-specific antibody for each factor. Expressing epitope tagged factors from BACs ensures that the factors are expressed at near-physiological level...
Source: NHGRI Active Grants - September 30, 2009 Category: Genetics & Stem Cells Source Type: funding

Genetics of MRSA InfectionEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Enter the text here that is the new abstrRecent advances in large-scale DNA sequencing have the potential for rapid advances in correlating disease phenotypes with genotypes. Infectious disease research has long focused on the pathogen's role in infection but less so on the impact of the host genotype. The current epidemic of Methicillin Resistant Staphylococcus aureus (MRSA) infection is a Grand Opportunity to apply new genetic methods to understanding this disease. There are multiple outcomes from MRSA infection, ranging from curable localized infection to devastating invasive infection. The project will study 500 subjec...
Source: NHGRI Active Grants - September 30, 2009 Category: Genetics & Stem Cells Source Type: funding

Next-Generation Medical Resequencing of Gout Disease GenEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by applicant): This proposal responds to the GO Program ARRA Medical Sequencing Discovery Projects to establish next-generation technologies for medical resequencing in smaller academic laboratories compared to larger facilities like the Genomic Sequencing Centers. In this application, we propose to use next-generation sequencing for medical resequencing of genes that have shown highly significant associations with gout and serum uric acid levels in genome-wide association studies (GWAS) in the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE). Resequencing will characterize the ov...
Source: NHGRI Active Grants - September 30, 2009 Category: Genetics & Stem Cells Source Type: funding

Deep Sequencing Analysis of mRNA Isoform Expression ChanEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by applicant): Myotonic dystrophy (DM) is the most common form of adult onset muscular dystrophy, with an incidence of about 1 in 8,000 adults. The most common form of the disease, DM1, is caused by an expanded CTG repeat in the 3' UTR of the DMPK gene, and CUG repeat RNAs from this gene fold into hairpins that accumulate in nuclear foci, resulting in effective depletion of the alternative splicing factor Muscleblind (MBNL1) and hyperactivation of the splicing factor CUG Binding Protein 1 (CUGBP1). Misregulation of splicing by these factors is central in the disease. Thus, characterization of the spec...
Source: NHGRI Active Grants - September 30, 2009 Category: Genetics & Stem Cells Source Type: funding

Microlysis Technology: Enabling Cell Type-Specific ProteEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by applicant): This application addresses broad Challenge Area (06) Enabling Technologies and Specific Challenge Topic 06-HG-102: Technologies for obtaining genomic, proteomic, and metabolomic data from individual viable cells in complex tissues. Perhaps the greatest challenge in the area of proteomics is to develop methods that can report on the abundances and post-translational modification states of many different proteins in a single cell or cell type obtained with high spatial and temporal resolution from complex, living tissue. There are two fundamental issues that need to be addressed in order ...
Source: NHGRI Active Grants - September 30, 2009 Category: Genetics & Stem Cells Source Type: funding

Defining the genetic basis of human respiratory chain diEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by applicant): The mitochondrion is the center stage for energy metabolism, apoptosis, signaling, and ion homeostasis. Much of what we know about this organelle comes from studying mitochondrial respiratory chain disease (RCD). This devastating disease is due to genetic defects in the mtDNA or the nuclear DNA that give rise to a malfunctioning mitochondrial respiratory chain. Virtually all organ systems can be affected. RCD affects an estimated 1:5000 live births and is devastating - it is extremely difficult to diagnose, requiring consultation by multiple physicians and invasive biopsies, and at pres...
Source: NHGRI Active Grants - September 30, 2009 Category: Genetics & Stem Cells Source Type: funding

Genetics of Lipid Levels: Draft Sequencing of 1000 GenomEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by applicant): This application responds to NHGRI's call for Medical Sequencing Discovery Projects that will use next-generation sequencing technology to tackle high-impact challenges in medical genetics. We propose to build on our successes in the study of blood lipid levels and other complex traits in a Sardinian population cohort by generating draft whole genome sequences for 1,000 individuals using whole genome shotgun approaches, as pioneered by the 1,000 Genomes Project. The proposed experimental plan poses many logistical, computational and statistical challenges, which we are uniquely poised t...
Source: NHGRI Active Grants - September 30, 2009 Category: Genetics & Stem Cells Source Type: funding

Development of Electron Microscopy-based Nucleic Acid PoEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by applicant): We aim to provide a comprehensive foundation for development of an ultra-low-cost, ultra-fast nucleic acid polymer sequencing technology based on single-atom resolution transmission electron microscopy (TEM) of heavy atom-labeled nucleic acid polymers. Our particular approach is based on TEM imaging of ultra-dense (3 nm strand-to-strand spacing) parallel arrays of high molecular weight ssDNA molecules labeled base- selectively with heavy atoms. This will allow read lengths of at least ~150 kb and potentially as much as 2-4 Mb or more, with no special difficulties posed by highly repetit...
Source: NHGRI Active Grants - September 30, 2009 Category: Genetics & Stem Cells Source Type: funding

A Universal Front End to Improve Assembly Outcomes for NEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by applicant): DNA sequencing is currently in the midst of disruptive technological shifts, with 454, Illumina, and Solid providing us with enormous throughput increases and large reductions in cost per base. Massively parallel technologies deliver a few Gbp of sequence per week as short fragments, or reads. New applications of sequencing only recently considered impractical are enabled: personal genome sequencing, metagenomics analysis of 'soups' containing several, to hundreds of unique organisms, and finally, de novo sequencing of novel genomes of complex organisms. No matter how the sequencing is ...
Source: NHGRI Active Grants - September 30, 2009 Category: Genetics & Stem Cells Source Type: funding

Virtual Machines and Cloud Computing for automated and pEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Increasing amounts of sequence data are being generated in multiple biomedical research disciplines, particularly through the application of next-generation sequencing technologies to the genomic analysis of humans and their associated microbiome. However, the bioinformatic infrastructure necessary for sequence processing, requiring demanding software installations and access to powerful CPUs, currently presents a dramatic bottleneck for the further expansion of research in this field. Our proposal aims to address this problem through the generation of a portable, stand-alone Virtual Machine (VM) software package that comb...
Source: NHGRI Active Grants - September 30, 2009 Category: Genetics & Stem Cells Source Type: funding

Mapping Transcription Factors Binding Sites in the MouseEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by applicant): Large-scale efforts are underway to systematically map transcription factors binding sites throughout the human genome. The ENCODE project has focused its initial attention on two cell lines, 1) K562 cells, a myeloid precursor cell line and 2) GM12878, a lymphoblastoid cell line, and our laboratory has mapped the binding sites of a large number of transcription factor expressed in these cells. To study their conservation and help provide functional information into these binding sites and to determine if these sites are occupied in vivo, we propose two types of studies. First, we will m...
Source: NHGRI Active Grants - September 30, 2009 Category: Genetics & Stem Cells Source Type: funding

Statistical Methods for Next-Gen Sequencing in Disease AEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Statistical Methods for Next-Generation Sequencing in Disease Association Studies Through this project we propose to develop statistical approaches and software for genotype calling andassociation testing in next-generation sequence data. The field is driven by molecular advances that allow foraffordable, massively parallel sequencing. The rapid development of statistical methods for next-generationsequence data in disease studies is necessary to keep pace with the advancing molecular technology. Next-generation sequencing is based on random, short-read technology; thus the coverage of any nucleotide ishighly variable and ...
Source: NHGRI Active Grants - September 30, 2009 Category: Genetics & Stem Cells Source Type: funding

Next Generation Mendelian GeneticsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by applicant): This application addresses NHGRI RFA-OD-09-004 for Medical Sequencing Discovery Projects. The ultimate goal of this proposal is to scale a new approach to identify the candidate genes and mutations that underlie rare Mendelian diseases in humans by exome resequencing. For decades, linkage analysis has been the mainstay of human genetics. However, for rare Mendelian diseases where family collection is difficult or pedigrees are small, this approach is less useful. Although the molecular bases of more than 2,600 Mendelian diseases have been determined by linkage mapping or a candidate gen...
Source: NHGRI Active Grants - September 30, 2009 Category: Genetics & Stem Cells Source Type: funding

Development of a Software Pipeline for Sequence DataEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by applicant): Next-gen sequencing technologies are generating an incredible amount of data in a very short time span. While the raw sequence data is submitted to NCBI, at present there is no standard pipeline at NIH that can process this vast amount of data in a uniform, robust, fast and accurate manner to produce the variant calls needed for further biological research. For large collaborative projects, such as 1000 genomes or TCGA, it is critical to the quality of the results that all data for the project be processed consistently, through a single, validated analysis pipeline. The pipelines must b...
Source: NHGRI Active Grants - September 30, 2009 Category: Genetics & Stem Cells Source Type: funding

Quantification of gene expression in targeted rare cellsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We present here a technique to quantify expression of up to 100 genes in 1-10 cells residing in intact tissue in an animal. This powerful approach is broadly applicable to the study of a wide variety of biological processes. Specifically, we propose that these techniques can distinguish gene expression patterns in a selected cell type in gross tissue samples and allow the recognition of regulatory pathways and metabolic processes that are fundamental to stem cell and cancer cell behaviors. (Source: NHGRI Active Grants)
Source: NHGRI Active Grants - September 30, 2009 Category: Genetics & Stem Cells Source Type: funding

Nanodiagnostics and Nanotherapeutics: Building ResearchEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by applicant): This proposal on Nanodiagnostics and Nanotherapeutics:Building Research Ethics and Oversight responds to RFA-OD-009-0003, addressing Challenge Area 02: Bioethics and Challenge Topic Unique Ethical Issues Posed by Emerging Technologies, as set forth in 02-OD (OSP)-101. The ability to manipulate atoms and molecules at the nanoscale has catalyzed the emerging field of nanomedicine. While many biological phenomena occur at the nanoscale, nanomedicine denotes material fabricated at the scale of 1-100 nanometers (nm) to take advantage of novel properties (biological, optical, thermal, chemica...
Source: NHGRI Active Grants - September 30, 2009 Category: Genetics & Stem Cells Source Type: funding

Miniaturized DNA Sequencer for Identification of MicrobiEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by applicant): Miniaturized DNA Sequencer for Identification of Microbial Pathogens Abstract. The goal of this project is develop a compact and inexpensive DNA sequencer based on the implementation of sequencing-by-synthesis chemistry on a droplet-based digital microfluidic cartridge. The proposed device would be capable of sequencing 10's to 100's of base pairs using an inexpensive disposable cartridge and a compact and simple piece of equipment. The cartridge will also integrate sample preparation capability, including DNA amplification, to enable widespread use by non-specialists and provide rapid ...
Source: NHGRI Active Grants - September 30, 2009 Category: Genetics & Stem Cells Source Type: funding

An Ontology of Qualities for the Annotation of BiomedicaEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by applicant): Our proposal is to develop an ontology of qualities (i.e. distinguishing characteristics such as: long, short, increased, decreased, red, blue, and so on) and use it, in conjunction with ontologies of particular anatomies and biological processes, to describe phenotypic data from zebrafish, fruit fly, mouse, and human rigorously. This work will provide one of the integral components necessary for integrating phenotypic descriptions semantically with other aspects of biomedical knowledge. Currently these descriptions are recorded either as free text or using a terminology that is idiosyn...
Source: NHGRI Active Grants - September 30, 2009 Category: Genetics & Stem Cells Source Type: funding

Automated Integration of Biomedical KnowledgeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by applicant): Today, ontologies are critical instruments for biomedical investigators, especially in those areas, such as cancer research, that require the command of a vast amount of information and a systemic approach to the design and interpretation of experiments. In fact, ontologies are proliferating in all areas of biomedical research, offering both challenges and opportunities. One of the principal challenges to the full realization of their potential stems from the fact that ontologies are developed in isolation, rendering it impossible to move, for instance, from genes to organisms, to disea...
Source: NHGRI Active Grants - September 30, 2009 Category: Genetics & Stem Cells Source Type: funding

Increasing confidence and changing behaviors in primaryEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by applicant): Primary care physicians have almost no training in genetics, nor in the ethical, legal and social implications (ELSI) of genetic testing, diagnosis and therapy. Further, mere provision of curricular content fails to impact physician behavior. However, programs with elements that are based on established educational and adult learning principles have been shown to effective in affecting behavioral change. We propose to evaluate whether participation in a web-based curriculum focusing on the ethical legal and social issues in primary care genetics will improve primary care physicians' app...
Source: NHGRI Active Grants - September 30, 2009 Category: Genetics & Stem Cells Source Type: funding

Pharmacogenomics of Breast Cancer Adjuvant ChemotherapyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by applicant): This proposal represents a response to NIH RFA-HG-08-004 Genome-Wide Association (GWA) Studies of Treatment Response in Randomized Clinical Trials. We propose that we perform a GWA study using DNA samples from the Success A breast cancer trial of adjuvant chemotherapy. Breast cancer, the most common cancer, and the second-leading cause of cancer death in women, is of major public health importance. Most women with breast cancer are treated with, and benefit significantly from combination chemotherapy. However, patients with breast cancer display large individual variation in efficacy an...
Source: NHGRI Active Grants - September 30, 2009 Category: Genetics & Stem Cells Source Type: funding

Digital DNaseI mapping and footprinting of the mouse genEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by applicant): The goal of this project is to produce comprehensive, high-definition maps of mouse regulatory DNA marked by DNaseI hypersensitive sites to parallel the human catalogue currently under production by the ENCODE Project. Digital DNaseI technology enables efficient genome-wide mapping of accessible chromatin and DNaseI hypersensitive sites. The core regions of DNaseI hypersensitive sites are constitutively populated by regulatory factor binding sites, the nucleotide-resolution footprints of which may be systematically exposed on a genome-wide scale by ultra-deep sequencing. DNaseI hypersen...
Source: NHGRI Active Grants - September 29, 2009 Category: Genetics & Stem Cells Source Type: funding

Connectivity Map 100kEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by applicant): PROJECT SUMMARY: The Connectivity Map 100k project aims to forge a path toward a comprehensive 'functional look-up table' that that links disease biology, genome function and small-molecule action. Such a Connectivity Map would enable researchers worldwide to generate testable hypotheses that might otherwise remain undiscovered. By using genomic signatures as a common language with which to describe different cellular states, a broad range of research applications would be enabled. We propose here an ambitious plan to generate 100,000 Connectivity Map profiles of genetic and pharmacolog...
Source: NHGRI Active Grants - September 29, 2009 Category: Genetics & Stem Cells Source Type: funding

Computational & Functional Annotation of the Zebrafish GEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by applicant): Zebrafish with its growing arsenal of tools that allow the generation of transgenics, gene knockdowns and knockouts, and mutant resources coupled with its high-throughput and cost efficiency is quickly becoming the major animal model for drug screens and gene related studies. However, as with other vertebrate genomes, the majority of the zebrafish genome (97%) is made up of non-genic sequences whose functional necessity remains largely unknown. One vital function that is clearly embedded in these regions is gene regulation, instructing genes when and where to turn on or off. However, un...
Source: NHGRI Active Grants - September 29, 2009 Category: Genetics & Stem Cells Source Type: funding

Promoting genetic literacy in students and teachers: TheEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by applicant): This application addresses broad Challenge Area (12): Science, Technology, Engineering, and Mathematics Education (STEM) and specific Challenge Topic, 12-OD-104: Innovative approaches to STEM education. Title of project: Promoting genetic literacy in students and teachers: The effectiveness of non-classroom instructional strategies and settings Rapid advancements in genetic technology, the popularity and coverage of genetics by the press, and the increased understanding of the role genetics plays in our health necessitates a basic understanding of the science for everyone. In spite of t...
Source: NHGRI Active Grants - September 29, 2009 Category: Genetics & Stem Cells Source Type: funding

Pharmacogenomic studies in VISP: results & implicationsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION: (provided by applicant): More than 750,000 Americans suffer stroke each year. Of these, nearly 160,000 die and hundreds of thousands are disabled. The burden on the public health is even greater given that 11 million subclinical strokes per year contribute to cognitive decline and dementia. Ischemic stroke accounts for 85% of all strokes. Established stroke risk factors play major roles in defining stroke risk at a population level, but prediction of individual risk remains unrealized. Identification of factors that place individuals at risk for ischemic stroke is central to the development of therapeutic prev...
Source: NHGRI Active Grants - September 29, 2009 Category: Genetics & Stem Cells Source Type: funding

Analysis and integration of expression patterns in embryEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by applicant): Instructions for building tissues and organs are encoded into the genome and at each Step of embryonic development a series of transcriptional regulatory events are required for their accurate execution. Understanding the regulatory programs that pattern genes during embryogenesis is a key step in understanding developmental diseases and the mechanisms behind the formation and repair of healthy tissues and organs. The mechanisms that pattern tissues and organs are strikingly similar across species. Therefore model organisms, like the fruit fly, provide convenient experimental systems to...
Source: NHGRI Active Grants - September 28, 2009 Category: Genetics & Stem Cells Source Type: funding

Randomized Clinical Trials - Whole Genome Studies CoordiEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by applicant): The Department of Biostatistics at the University of Washington proposes to establish a Coordinating Center for a series of genome-wide association studies of treatment response in randomized clinical trials. The Coordinating Center will be administered within the Center for Biomedical Statistics of the Department of Biostatistics and it will take advantage of the experience gained by departmental activities as Coordinating Center for the Geneva project. Geneva is a series of 14 genome-wide association studies within the Gene-Environment Initiative. The new RTC-WGA Coordinating Center w...
Source: NHGRI Active Grants - September 28, 2009 Category: Genetics & Stem Cells Source Type: funding

Informed Consent and Data Access Issues in State-based BEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by applicant): This application addresses broad Challenge Area (02) Bioethics and specific Challenge Topic, 02-HG-101: Informed consent and data access policies. The ethical, legal, and social issues (ELSI) underlying the development and implementation of state-sponsored birth cohort studies and their accompanying biobanks are complex and potentially volatile. Michigan and other states, such as Connecticut and California, are in the midst of investigating and deliberating on how to set up biobanks, and there is a pressing need for practical ELSI research and guidelines for these historic initiatives. ...
Source: NHGRI Active Grants - September 26, 2009 Category: Genetics & Stem Cells Source Type: funding

Returning Individual Genetic Research Results to ParentsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This study will be important as genetic research moves towards participants truely realizing the benefits of the research they are a part of. (Source: NHGRI Active Grants)
Source: NHGRI Active Grants - September 26, 2009 Category: Genetics & Stem Cells Source Type: funding

Generating and Managing Large Scale Proteogenomic Data fEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by applicant): The first human genome sequence was published in 2001, yet as of now, eight years later, major questions remain, such as how many genes are encoded by the genome, and of those genes, how many functional products are encoded due to phenomena like alternative splicing. The Encyclopedia of DNA Elements (ENCODE) project has been coordinated by National Human Genome Research Institute (NHGRI) to answer these questions by comprehensively classifying functional elements on the human genome. The pilot phase of the project studied 1% of the genome in detail, revealing extensive transcription wel...
Source: NHGRI Active Grants - September 26, 2009 Category: Genetics & Stem Cells Source Type: funding

Enhance human ENCODE by function comparisons to mouseEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by applicant): Our goal is to discover and use relationships between mouse and human regulatory genomes to advance the ENCODE Project in its effort to map all functional elements in the human genome. Our comparative approach aims to uncover principles and solve problems that are proving difficult by studying the human genome alone. ENCODE is vigorously mapping hundreds of function-associated biochemical markers in selected cell lines, resulting already in tens of millions of reproducible biochemical features. Some observed protein:DNA interactions find and refine known transcriptional enhancers, promo...
Source: NHGRI Active Grants - September 26, 2009 Category: Genetics & Stem Cells Source Type: funding

Transcriptomics from Single Circulating Tumor CellsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by applicant): This application addresses the broad Research Area: 06, Enabling Technologies And Challenge Topic: 06-HG-102* Technologies for obtaining genomic, proteomic, and metabolomic data from individual viable cells in complex tissues. Methods will be developed to analyze gene expression from single cancer cells enabling studies at an unprecedented level of sensitivity. We propose techniques to measure RNA transcription from individual circulating tumor cells (CTCs) isolated from the blood of cancer patients. By accessing confirmed cancer cells, separated from the large background of normal cell...
Source: NHGRI Active Grants - September 26, 2009 Category: Genetics & Stem Cells Source Type: funding

Toward a Framework for Policy Analysis of Microbiome ResEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by applicant): It is recognized that research on the human microbiome is important for its potential scientific and medical impact. The complexity of microbiome research, however, could change the way that genetics is studied and understood because it calls for a more complex, nuanced framework for defining and demonstrating causality. The understanding of the human microbiome could also disrupt traditional assumptions about definitions of species, self, disease and normality. It is also recognized that microbiome research can raise ethical, legal, and social issues. The mandate to study the ELSI issu...
Source: NHGRI Active Grants - September 26, 2009 Category: Genetics & Stem Cells Source Type: funding

GWAS of Hormone Treatment and CVD and Metabolic OutcomesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by applicant): The results of the early-terminated WHI hormone trials (WHI-HT) led to a dramatic 50% reduction in hormone use by post-menopausal women in the ensuing 5 years since the trial was terminated. Yet, controversy persists, and several important clinical and scientific questions remain unresolved. Individuals are known to vary considerably in response to drug therapy and other interventions, both in magnitude of treatment effect and in risk of adverse events. Much of this variation in drug response has been hypothesized to have a genetic basis. Based on previous data from animal models, obser...
Source: NHGRI Active Grants - September 25, 2009 Category: Genetics & Stem Cells Source Type: funding

Dynamically scalable accessible analysis for next generaEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by applicant): Project Summary Wide availability of next-generation sequencing (NGS) instruments has enabled any investigator, for a modest cost, to produce enormous amounts of DNA sequence data. However, working with these raw sequences presents significant problems for individual investigators, small labs, or core facilities. For an experimental group with no computational expertise, simply running a data analysis program is a barrier, let alone building a compute and data storage infrastructure capable of dealing with NGS data. Fortunately, a computational model - Cloud computing - has recently eme...
Source: NHGRI Active Grants - September 25, 2009 Category: Genetics & Stem Cells Source Type: funding

Providing the $1000 genome via improved single moleculeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by applicant): DNA sequencing technology has improved dramatically over recent years with orders of magnitude improvements in the yield of sequence data having resulted from applying massively parallel approaches. Helicos has taken next generation sequencing even further with its single molecule technology, allowing simpler sample prep, lower sample quantities, and lower costs than competing platforms. However, this cost is still not low enough to make whole genome sequencing routinely available for medical or other applications. For sequencing whole genomes to become widespread, it will be necessary ...
Source: NHGRI Active Grants - September 25, 2009 Category: Genetics & Stem Cells Source Type: funding

A new system for mammalian cell genetics using a haploidEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The objective of this project is to develop a powerful new method for mammalian cell genetics for use in the identification of undiscovered genetic networks in cancer and other diseases. The specific aims are: 1. To generate a new platform for loss-of-function genetics. We will use a cell line haploid for all but one human chromosome and efficient gene-trap mutagenesis as an alternative methodology for phenotype-based, recessive genetic screens. 2. To use gene-trap screens in haploid cells to identify cancer relevant genes. We will employ this unique technology to discover novel genetic networks operative in cancer cell bi...
Source: NHGRI Active Grants - September 25, 2009 Category: Genetics & Stem Cells Source Type: funding

Nanopore-based Electrical Device for DNA SequencingEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by applicant): The technologies that make sequencing DNA fast, cheap and widely available have the potential to revolutionize bio-medical research and herald the era of personalized medicine. Being able to sequence human genomes for $1000 will enable comparative studies of variations between individuals in both sickness and health. Ultimately it can improve the quality of medical care by identifying patients who will gain the greatest benefit from a particular medicine, and those who are most at risk of adverse reactions. Nanopore-based sequencing technologies attempt to thread a long DNA molecule thr...
Source: NHGRI Active Grants - September 25, 2009 Category: Genetics & Stem Cells Source Type: funding

A Strategy for High Quality Clinical Resequencing of theEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DESCRIPTION (provided by applicant): The overall goal of this proposal is to develop a strategy towards clinical resequencing of the human genome which we define as the application of human genome resequencing to large clinical populations for disease gene discovery research as well as a clinical application that has diagnostic potential. Our strategy relies on third generation single molecule DNA sequencing as utilized by the Pacific Biosciences platform. We anticipate that single molecule DNA sequencing technology will ultimately be the sequencer of choice given these systems' rapid collection of massive amounts of DNA s...
Source: NHGRI Active Grants - September 25, 2009 Category: Genetics & Stem Cells Source Type: funding