Navigation Links
New NIH-funded resource focuses on use of genomic variants in medical care
Date:9/25/2013

Three grants totaling more than $25 million over four years will help three research groups to develop authoritative information on the millions of genomic variants relevant to human disease and the hundreds that are expected to be useful for clinical practice. The awards are from the National Institutes of Health.

More and more medical and research centers are sequencing the DNA of whole genomes (the body's entire genetic blueprint) or exomes (the genome's protein-coding region) of patients. Each time, millions of DNA differences in genes and the regions between the genes are detected. But doctors struggle to know which of those differences, called variants, are relevant to disease and for a patient's medical care. As a result, information on few genomic variants is used in clinical practice.

The grants will support a consortium of research groups to develop the Clinical Genome Resource (ClinGen). The investigators will design and implement a framework for evaluating which variants play a role in disease and those that are relevant to patient care, and will work closely with the National Center for Biotechnology Information (NCBI) of the National Library of Medicine (NLM), which will distribute this information through its ClinVar database. The grants are funded by the National Human Genome Research Institute (NHGRI) and the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), which, along with NCBI and NLM, are part of NIH. ClinGen was developed from NHGRI's Clinically Relevant Variants Resource program.

"With the genomic advances being witnessed every week, this resource should help in developing effective systems that will allow doctors to understand the role of genomic variants in disease and to use genomic information about their patients to improve their care," said NHGRI Director Eric D. Green, M.D., Ph.D.

"We are excited about the opportunity to make the ClinVar database on variants and disease more
'/>"/>

Contact: Steven Benowitz
steven.benowitz@nih.gov
301-451-8325
NIH/National Human Genome Research Institute
Source:Eurekalert

Page: 1 2 3

Related biology news :

1. NIH-funded researchers show possible trigger for MS nerve damage
2. NIH-funded genetic sequencing tool speeds drug discovery, disease diagnostics
3. NIH-funded researchers restore sense of smell in mice using genetic technique
4. NIH-funded study examines use of mobile technology to improve diet and physical activity behavior
5. UN: Rising reuse of wastewater in forecast but world lacks data on massive potential resource
6. Elsevier announces the launch of a new open access journal: Water Resources and Industry
7. Ben-Gurion U. and UChicago research collaboration targets water resource innovations
8. American Chemical Society resource connects scientists, discoveries, chemistry & biology interface
9. Shared Medical Resources, LLC files suit against Histologics, LLC, Womens Health Laboratories and Avero Diagnostics for Willful Patent Infringement
10. Collaboration to establish new computational resources for metabolomics
11. Study shows resources giveaway in Latin America; Outdated model tramples human rights, environment
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:8/29/2014)... 29, 2014) Scientists at the Barshop Institute for ... Medicine at the UT Health Science Center at San ... tissues of the longest-lived rodent, the naked mole rat. ... cells of naked mole rats protects and alters the ... and obsolete proteins. , The factor also protects proteasome ...
(Date:8/29/2014)... in German . ... natural nitrogen cycle on Earth and in biological wastewater ... to depend on nitrite as their source of energy. ... a microbiologist at the University of Vienna, has now ... alternative source of energy. The oxidation of hydrogen with ...
(Date:8/29/2014)... Tibetan plateau -- the largest topographic anomaly above sea ... profound effect on climate and its reflection of continental ... , Katharine Huntington and colleagues employ a cutting-edge geochemical ... fossil snail shells to investigate the uplift history of ... range widely on the timing of surface uplift of ...
Breaking Biology News(10 mins):Factor in naked mole rat's cells enhances protein integrity 2Hydrogen powers important nitrogen-transforming bacteria 2Hydrogen powers important nitrogen-transforming bacteria 3Snails tell of the rise and fall of the Tibetan Plateau 2Snails tell of the rise and fall of the Tibetan Plateau 3Snails tell of the rise and fall of the Tibetan Plateau 4Snails tell of the rise and fall of the Tibetan Plateau 5Snails tell of the rise and fall of the Tibetan Plateau 6Snails tell of the rise and fall of the Tibetan Plateau 7
... pondered at least since the phrase "nature versus nurture" was ... modern genomic sequencing tools, it was hard to measure the ... Now, researchers with the Virginia Bioinformatics Institute at Virginia ... a unique natural environment known as "Evolution Canyon" show that ...
... NASA scientists have revealed the inner workings of the ... that declining chlorine in the stratosphere has not yet ... than 20 years after the Montreal Protocol agreement limited ... area of the annual ozone hole and watched it ...
... Sciences faculty members whose research has resulted in ... startup companies have been named fellows of the ... Wittwer, M.D., Ph.D., professor of pathology and research ... of internal medicine and chief of the Division ...
Cached Biology News:Environment drives genetics in 'Evolution Canyon'; discovery sheds light on climate change 2Environment drives genetics in 'Evolution Canyon'; discovery sheds light on climate change 3NASA reveals new results from inside the ozone hole 2NASA reveals new results from inside the ozone hole 3Researchers named to National Academy of Inventors 2Researchers named to National Academy of Inventors 3Researchers named to National Academy of Inventors 4
(Date:8/28/2014)... Lawrence, MA (PRWEB) August 28, 2014 “This ... single test to screen from 0 to 150 ppb,” said ... test is a significant benefit to plant owners and USDA-GIPSA ... corn and other commodities. Testing can take place in a ... Not only can the plant test the feed and grain ...
(Date:8/28/2014)... BOSTON , Aug. 28, 2014  Next month, executives ... at three key industry events beginning with Patient-Centered Clinical ... Hotel in Boston , September 4-5. Patient ... , and Aaron Fleishman will share insights on ... how a variety of tactics – from media to mobile ...
(Date:8/28/2014)... USA (PRWEB) August 27, 2014 Scientists, ... month for SPIE Laser Damage 2014 symposium. ... materials for high-power lasers will run 14-17 September. The ... for optics and photonics . , The premier conference ... understanding laser damage to optical materials will engage researchers ...
(Date:8/28/2014)... August 28, 2014 Whitehouse Laboratories is ... term partnership with PTI Inspection Systems that ... state of the art leak testing method development and ... instruments currently available. As part of this agreement, Whitehouse ... Voltage Leak Detection Instrument developed and manufactured by ...
Breaking Biology Technology:BBK Worldwide Leads Sessions at Key September Events 2Laser Damage to Draw Researchers, Engineers, Scientists to 46th Annual Conference 2Laser Damage to Draw Researchers, Engineers, Scientists to 46th Annual Conference 3Whitehouse Labs Renews Partnership with PTI Inspection Systems 2Whitehouse Labs Renews Partnership with PTI Inspection Systems 3
... MISSISSAUGA, ON, March 3 /PRNewswire-FirstCall/ - Vasogen Inc.,(NASDAQ: VSGN ... a clinical,trial which is being planned to support an ... the treatment of patients with New,York Heart Association (NYHA) ... December that the FDA was examining its,internal jurisdiction over ...
... of premium-priced products, including resurfacing hips and, alternative ... ... Research Group, WALTHAM, Mass., March 3 Millennium Research ... almost,10% in 2007. Data from MRG,s US Orthopedic Reconstructive Marketrack(TM),indicates ...
... NicOx S.A.,(Euronext Paris: COX) today announced the ... United States, which will assess the blood,pressure profile ... the Ambulatory Blood Pressure Monitoring (ABPM) technique. These,separate ... together recruit a,total of around 420 osteoarthritis patients ...
Cached Biology Technology:Vasogen Provides Update on ACCLAIM II Program 2Vasogen Provides Update on ACCLAIM II Program 3Vasogen Provides Update on ACCLAIM II Program 4US Large-Joint Reconstructive Implant Market Grew 10% in 2007 2NicOx Initiates Two Large ABPM Studies for Naproxcinod in Hypertensive Patients with Osteoarthritis 2NicOx Initiates Two Large ABPM Studies for Naproxcinod in Hypertensive Patients with Osteoarthritis 3NicOx Initiates Two Large ABPM Studies for Naproxcinod in Hypertensive Patients with Osteoarthritis 4NicOx Initiates Two Large ABPM Studies for Naproxcinod in Hypertensive Patients with Osteoarthritis 5
... short years since publication of the best-selling ... acclaimed Protein Protocols Handbook, there have been ... In recognition of the level of attention ... of new methodologies directed to study them, ...
... Pan-Caspase In Situ Assay Kit, Fluorescein is ... caspases in cells undergoing apoptosis. The kit ... use in diagnostic or therapeutic procedures. CHEMICON®s ... a novel approach to detect active caspases. ...
... CaspaTag™ Pan-Caspase In Situ Assay Kit is ... caspases in cells undergoing apoptosis. The kit ... use in diagnostic or therapeutic procedures. CHEMICON®s ... a novel approach to detect active caspases. ...
...
Biology Products: