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NHGRI in Medical News

BioNanomatrix Awarded Phase II NIH Grant to Support Development of Its Single-Molecule Nanoscale Whole Genome Analyzer

... - New $2.1 Million SBIR Grant Extends nhgri Support for Commercial Development of the Company's Revolutionary Whole Genome Imaging and Analysis Platform - PHILADELPHIA, March 17 /PRNewswire...

3 sequencing companies join 1000 Genomes Project

...es of people with specific illnesses. "In some ways, this application of the new sequencing technologies is like building bigger telescopes," said nhgri Director Francis S. Collins, M.D., Ph.D. "Just as astronomers see farther and more clearly into the universe with bigger telescopes, the results of th...

Researchers Publish Genome Sequence for Duck-Billed Platypus

...man Genome Research Institute (NHGRI), said in a prepared statement. The nhgri helped fund the analysis of the genome sequence of the platypus, which is n...amural Research, said in a prepared statement. More information The nhgri has more about genomics . -- Robert Preidt ...

Scientists identify new leads for treating parasitic worm disease

...vity. Chemical genomic advances are being used to develop a new approach to a parasite that has afflicted countless generations of humankind, said nhgri Director Francis S. Collins, M.D., Ph.D. This study showcases the beauty of high-throughput chemical screening for biomedical applications. NCGC Di...

Genome-wide association study on Parkinson's disease finds public home at NIH

..., both of the National Institutes of Health (NIH). nhgri hopes to speed up research by making previously un...s, said Teri Manolio, M.D., Ph.D., director of the nhgri Office of Population Genomics. This is the first orphan data set nhgri is adopting to make public through NCBI, but it ce...

Global Analysis of Human DNA Tracks Migration, Identity

... "This new project will increase the sensitivity of disease discovery efforts across the genome fivefold and within gene regions at least 10-fold," nhgri director Dr. Francis S. Collins said in a prepared statement. More information For more information on understanding the human genome, visit t...

DNA Findings Reveal Genetic History of Humans

... "This new project will increase the sensitivity of disease discovery efforts across the genome fivefold and within gene regions at least 10-fold," nhgri director Dr. Francis S. Collins said in a prepared statement. More information For more information on understanding the human genome, visit t...

Project Will Map Genomes of 1,000 People Worldwide

... "This new project will increase the sensitivity of disease discovery efforts across the genome five-fold and within gene regions at least 10-fold," nhgri director Dr. Francis S. Collins said in a prepared statement. "Our existing databases do a reasonably good job of cataloging variations found in at...

International consortium announces the 1000 Genomes Project

... across the genome five-fold and within gene regions at least 10-fold, said nhgri Director Francis S. Collins, M.D., Ph.D. Our existing databases do a reason...formed consent for their DNA to be analyzed and placed in public databases. nhgri and its partners will follow the extensive and careful ethical procedures e...

Penn wins $5M to start center for ethical, legal and social implications research

...g ethical, legal and social implications of genomic research is central to our goal of safely and effectively moving discoveries into the clinic, said nhgri Director Francis S. Collins, MD, PhD. These centers will work to identify and address the most pressing issues being confronted by individuals, famili...
NHGRI in Medical Technology

Researchers Identify New Genetic Risk Factors for Type 2 Diabetes

...nally are making significant progress,” said nhgri Director Collins, who led the NIH component of the....niddk.nih.gov/dm/pubs/overview/index.htm . nhgri and NIDDK are two of the 27 institutes and centers...f the Department of Health and Human Services. The nhgri Division of Intramural Research develops and imple...
NHGRI in Medical Dictionary

Spinal muscular atrophy

...Spinal muscular atrophy is a rare degenerative problem that affects the spinal cord and nerves, resulting in muscle wasting and weakness. nhgri Clinical Research on Spinal Muscular Atrophy ... Spinal muscular atrophy is a group of inherited disorders that cause progressive ... ...

Polycystic Kidney

...nts - HealthNewsflash ... Polycystic kidney disease (PKD) is a genetic ... What is autosomal dominant polycystic kidney disease? ... nhgri Clinical Research on Autosomal Dominant Polycystic Kidney Disease ... Important It is possible that the main title of the report Polycystic ...

Phenylketonuria

... Phenylketonuria (PKU) is a genetic disorder that is characterized by an ... Response to Phenylketonuria to Tetrahydrobiopterin (BH4) Current nhgri Clinical Studies ... The History of Newborn Phenylketonuria Screening in the United States ... Phenylketonuria information including symptoms,...

Muscular atrophy

... atrophy is a disorder of specialized nerve cells that ... I find information about treatment for spinal and bulbar muscular atrophy ? ... nhgri Clinical Research on Spinal Muscular Atrophy ... Spinal muscular atrophy is a group of inherited disorders that cause progressive ... Spin...

Genetic

...ls and families affected by an uncommon number of X and/or Y chromosomes, including ... NCI's gateway for information about cancer genetics. ... nhgri Talking Glossary of Genetic Terms ... issues associated with genetic testing are also discussed. ... Answers to frequently asked questions abo...

Autosomal dominant

...sa. ... In autosomal dominant retintis pigmentosa, one of the chromosome ... What is autosomal dominant polycystic kidney disease? ... nhgri Clinical Research on Autosomal Dominant Polycystic Kidney Disease ... Easy-to-use, talking glossary of genetic terms, produced by the Nation...

Atrophy

...e poor nourishment, poor circulation, loss of hormonal ... Atrophy of the testes occurs with prolonged use of enough exogenous sex steroid ... nhgri Clinical Research on Spinal Muscular Atrophy ... Spinal muscular atrophy is a group of inherited disorders that cause progressive ... Online M...

Alpha-1 Antitrypsin Deficiency

...in deficiency ? ... What are the symptoms of alpha - 1 antitrypsin deficiency (AATD) ... alpha - 1 antitrypsin deficiency inherited? nhgri Clinical Research on Alpha - 1 Antitrypsin ... Alpha 1 - Antitrypsin Deficiency information including symptoms, diagnosis, misdiagnosis,...
NHGRI in Biological News

NIH announces new program to develop therapeutics for rare and neglected diseases

...scoveries across a wide range of illnesses," said Alan E. Guttmacher, M.D., nhgri Acting Director. "Biotechnology and pharmaceutical companies have enormous ...n, M.D., NCGC Director and Senior Advisor for Translational Research to the nhgri director. "This will still be hard work and it will take time and produce ...

Free online toolkit provides standard measures for genome and population studies

...is the first product of the Consensus Measures for Phenotypes and eXposures (PhenX) initiative. Supported by a $6.8 million cooperative agreement from nhgri and conducted by RTI International in Research Triangle Park, N.C., PhenX is a three-year project to develop a set of standard measures across 20 rese...

Skin cancer study uncovers new tumor suppressor gene

...f genomic strategies for understanding cancer and possible therapies," said nhgri Scientific Director Eric Green, M.D., Ph.D. "It is gratifying to see that g...t, colon and melanoma. To explore the role of MMP genes in melanoma, the nhgri researchers studied a bank of tumor and blood samples collected from 79 pat...

In just 5 years, gene discovery to clinical trial of potential treatment

...S' genetic mutation in 2003. Just two years later, nhgri scientists identified the class of experimental ca...gevity.) Studying cells from HGPS patients, the nhgri scientists found that the minute change in the LMN...progerin production can be blocked by a FTI drug, nhgri scientists soon discovered in their studies of lab...

Anti-cancer drug prevents, reverses cardiovascular damage in mouse model of premature aging disorder

... said the study's senior author, Dr. Collins, who is the former director of nhgri and who continues to conduct research as a special volunteer in the Genome ... genetic disorders often has implications for more common conditions," said nhgri Scientific Director Eric D. Green, M.D., Ph.D. "For example, a growing body...

NHGRI seeks DNA sequencing technologies fit for routine laboratory and medical use

... decade, fueled in large part by tools, technologies and process improvements developed as part of the successful effort to sequence the human genome. nhgri subsequently launched programs in 2004 to accelerate the development of sequencing technologies and the rate of reduction of genome sequencing cost. ...

Major collaboration uncovers surprising new genetic clues to diabetes

...se discoveries can empower new approaches to understanding environmental influences and to the development of new, more precisely targeted drugs, said nhgri Director Francis S. Collins, M.D., Ph.D., who is a co-author of the study. Dr. Collins' laboratory is a participant in the FINRISK 2002 and Finland-Un...

New genetic variants associated with lipid levels, risk for coronary artery disease

...ids . These results are yet another example of how genome-wide association studies are opening exciting new avenues for biomedical research, says nhgri Director Francis S. Collins, M.D., Ph.D., who is a coauthor of the study and an investigator in NHGRIs Genome Technology Branch. While some of the gen...

Researchers uncover new piece to the puzzle of human height

...articipants in the Finland-United States Investigation of Non-Insulin Dependent Diabetes Mellitus Genetics (FUSION) study, which receives support from nhgri and the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). It has been exciting to see how the SardiNIA and FUSION investig...

NIH launches Human Microbiome Project

...n to the sequencing centers at the Baylor College of Medicine, Houston, and Washington University School of Medicine, St. Louis, which are part of the nhgri Large-Scale Sequencing Research Network; and the Broad Institute of MIT/ Harvard, Cambridge, Mass., and the J. Craig Venter Institute, Rockville, Md.,...

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NHGRI in Biological Technology

Large-scale genetic study sheds new light on lung cancer

...ective will help to focus our research vision and speed our efforts to develop new strategies for disarming this common and devastating disease," said nhgri Acting Director Alan E. Guttmacher, M.D. Like most cancers, lung adenocarcinoma arises from changes that accumulate in people's DNA over the cours...

Hutchinson Center Receives $7.6 Million Federal Grant to Study How Genetic Variations Influence Risk of Common Diseases

...e investigators from the University of Arizona Cancer Center, Ohio State University and the University of Pittsburgh. For more information about the nhgri program and the other grantees, please visit http://www.genome.gov/27527085 . At Fred Hutchinson Cancer Research Center, our interdisciplinary tea...

Pacific Biosciences Acquires Single Molecule Sequencing Technology from LI-COR Biosciences

...vidow Ventures, Alloy Ventures and Maverick Capital among others. The company has also received an Advanced Sequencing Technology Award grant from the nhgri (National Human Genome Research Institute) to develop the $1,000 genome. More information is available at http://www.pacificbiosciences.com . CON...

NIH collaborates with EPA to improve the safety testing of chemicals

...unter. The collaborative research program is outlined in the jointly authored Science paper. The co-authors Francis S. Collins, M.D., Ph.D., nhgri director; George M. Gray, Ph.D., assistant administrator for EPAs Office of Research and Development which houses the NCCT; and John R. Bucher, Ph.D.,...

Consortium publishes Phase II map of human genetic variation

...hat are shedding new light on the complex genetics of common diseases, said nhgri Director Francis S. Collins, M.D., Ph.D. This new approach to research, cal...chers to conduct genome-wide association studies in additional populations, nhgri plans to extend the HapMap even further. Among the populations donating add...

WHOLE GENOME SEQUENCING

...ncing pass rates Proven experience and provider of sequencing for nhgri funded whole genome projects HIGHLY EX...ome projects along with a host of microbial genome projects. The nhgri acknowledged our quality and past contributions to the genomics ...

FULL LENGTH INSERT SEQUENCING

...ology Oracle-based Galaxy LIMS nhgri funded, GLP-compliant facility ...quality scores for each base. nhgri SEQUENCE PROVIDER The nhgri (National Human Genome Research Institute) recogni...
NHGRI in Biological Definition

Genomics

... :444-56 Mouse 98% source: Americans for Medical Progress 85% comparing all protein coding sequences, nhgri Dog 95% Jon Entine in the San Francisco Examiner C. elegans 74% Jon Entine in the San Francisc...
NHGRI in Biological Dictionary

Proteomics

...er of the Swiss Institute of Bioinformatics, dedicated to the analysis of protein sequences and structures, as well ... Summary of the April 2002 nhgri workshop on Proteomics . ... The term ' proteomics ' carries with it the connection to genomics and the ... A fast-tracked paper on a possible n...

Genome project

...coli K-12 genome . ... Project . HapMap 3 and ENCODE 3. Human Microbiome. Microbial Genome Projects ... The Bovine Genome Project leveraged nhgri funds with funds from other sources. ... The Floral Genome Project will generate large EST datasets, capturing thousands ... The Floral Genome...

DNA sequencing

...ional Human Genome Research Institute. ... The first methods for sequencing DNA were developed in the mid-1970s. ... Synopsis of the April 1996 nhgri Workshop on DNA sequence validation; what methods should be used to check DNA sequencing accuracy. ... to determine the actual sequence o...

DNA sequence

...National Human Genome Research Institute. ... DNA sequence information derived by the HGP laboratories is freely ... Synopsis of the April 1996 nhgri Workshop on DNA sequence validation; what methods should be used to check DNA sequencing accuracy. Every living organism has its own DNA ...

Codon

... in one polynucleotide ... Codon . National Human Genome Research Institute (NHGRI) by artist Darryl Leja. Look up a description of Codon in the nhgri Talking Glossary ... OptimumGene codon optimization tool optimizes any difficult sequence in any host to advance gene expression with pro...

Base pair

...esearch Institute (NHGRI) ... Look up a description of Base Pair in the nhgri Talking Glossary ... Base Pair . National Human Genome Research Insti...NHGRI) by artist Darryl Leja. Look up a description of Base Pair in the nhgri Talking Glossary ... The rules of base pairing tell us that if we ca...

Autosome

...ries, research information, and more. ... For example, in humans, there are 22 pairs of autosomes . ... Look up a description of Autosome in the nhgri Talking Glossary ... Site Feedback Ad Content Feedback About AE Copyright © Info ... ...
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