Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

New NIH-funded resource focuses on use of genomic variants in medical care

26.09.2013
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 robust with data from the ClinGen effort," said NCBI Director David J. Lipman, M.D. "This comprehensive information will be a valuable resource to disease researchers and clinicians."

It is difficult to determine the roles of variants in common complex diseases, such as heart disease and diabetes, where dozens of variants may be involved, each usually having a small effect. The resource's investigators will focus first on variants underlying certain forms of cancer, cardiovascular disease, and metabolic disorders, where having the variant usually results in getting the disease.

Many groups have their own protocols for assessing whether the genomic variants they have identified are clinically relevant, said Erin M. Ramos, Ph.D., program director in the NHGRI Division of Genomic Medicine. "We have to agree on what evidence is needed to decide whether the effects of a variant are medically relevant, and to make that evidence available to the public as well as the research and clinical communities," she said.

"There are about 2,000 separate databases on specific genes and diseases," said Lisa D. Brooks, Ph.D., director of the Genetic Variation Program in the NHGRI Division of Genome Sciences. "We expect that this central effort partnered with ClinVar will make this information more easily available and widely used."

The following groups are receiving grants (pending available funds after year one):

Heidi L. Rehm, Ph.D., Brigham and Women's Hospital, Boston; David H. Ledbetter, Ph.D., and Christa L. Martin, Ph.D., Geisinger Health System, Danville, Pa.; Joyce A. Mitchell, Ph.D., University of Utah, Salt Lake City; and Robert L. Nussbaum, M.D., University of California, San Francisco
$8.25 million over three years

This group will develop standard formats for gathering and depositing data into ClinVar. It will work with clinical laboratories and with specific gene databases to obtain many data sets on genomic variants and disease associations. It will also develop standards to analyze variants and determine whether they are potentially disease-causing and medically useful. These researchers have formed the International Collaboration for Clinical Genomics to foster these efforts.
Jonathan S. Berg, M.D., Ph.D, and James P. Evans, M.D., Ph.D, University of North Carolina, Chapel Hill; David H. Ledbetter, Ph.D., Geisinger Health System; and Michael S. Watson, Ph.D., American College of Medical Genetics and Genomics, Bethesda, Md.

$8.4 million over four years

This group will define categories of clinical relevance for variants. It will organize clinical working groups with experts in molecular genetics, cancer, cardiovascular disease, and other areas to focus on evaluating variants for clinical relevance. It will also study ways to integrate this information into electronic health records.

Carlos D. Bustamante, Ph.D., Stanford University, Palo Alto, Calif.; and Sharon E. Plon, M.D., Ph.D., Baylor College of Medicine, Houston
$8.4 million over four years

This group will use computational and informatics tools and databases to determine which genomic variants have strong evidence for being associated with disease risk and will prioritize the variants for further study. It will also develop and apply computing methods to process variants more quickly than currently possible. In addition, researchers will improve the predictions of which variants are associated with disease risk in non-white populations. The team will coordinate with ClinVar to disseminate ClinGen's information through public websites.

As the research groups develop consensus on the clinical value of variants, they will work with professional organizations, which will use the information to develop clinical practice guidelines.

The grant numbers of these awards are U41 HG006834-01A1; U01 HG007437-01; and U01 HG007436-01.

NHGRI is one of the 27 institutes and centers at the National Institutes of Health. The NHGRI Extramural Research Program supports grants for research and training and career development at sites nationwide. Additional information about NHGRI can be found at http://www.genome.gov .

The National Library of Medicine (NLM) is the world's largest library of the health sciences and collects, organizes and makes available biomedical science information to scientists, health professionals and the public. For more information, visit http://www.nlm.nih.gov.

About the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): The NICHD sponsors research on development, before and after birth; maternal, child, and family health; reproductive biology and population issues; and medical rehabilitation. For more information, visit the Institute's website at http://www.nichd.nih.gov.

About the National Institutes of Health (NIH): NIH, the nation's medical research agency, includes 27 institutes and centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit http://www.nih.gov.

Steven Benowitz | EurekAlert!
Further information:
http://www.nih.gov

More articles from Health and Medicine:

nachricht Norovirus evades immune system by hiding out in rare gut cells
12.10.2017 | University of Pennsylvania School of Medicine

nachricht Flexible sensors can detect movement in GI tract
11.10.2017 | Massachusetts Institute of Technology

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Neutron star merger directly observed for the first time

University of Maryland researchers contribute to historic detection of gravitational waves and light created by event

On August 17, 2017, at 12:41:04 UTC, scientists made the first direct observation of a merger between two neutron stars--the dense, collapsed cores that remain...

Im Focus: Breaking: the first light from two neutron stars merging

Seven new papers describe the first-ever detection of light from a gravitational wave source. The event, caused by two neutron stars colliding and merging together, was dubbed GW170817 because it sent ripples through space-time that reached Earth on 2017 August 17. Around the world, hundreds of excited astronomers mobilized quickly and were able to observe the event using numerous telescopes, providing a wealth of new data.

Previous detections of gravitational waves have all involved the merger of two black holes, a feat that won the 2017 Nobel Prize in Physics earlier this month....

Im Focus: Smart sensors for efficient processes

Material defects in end products can quickly result in failures in many areas of industry, and have a massive impact on the safe use of their products. This is why, in the field of quality assurance, intelligent, nondestructive sensor systems play a key role. They allow testing components and parts in a rapid and cost-efficient manner without destroying the actual product or changing its surface. Experts from the Fraunhofer IZFP in Saarbrücken will be presenting two exhibits at the Blechexpo in Stuttgart from 7–10 November 2017 that allow fast, reliable, and automated characterization of materials and detection of defects (Hall 5, Booth 5306).

When quality testing uses time-consuming destructive test methods, it can result in enormous costs due to damaging or destroying the products. And given that...

Im Focus: Cold molecules on collision course

Using a new cooling technique MPQ scientists succeed at observing collisions in a dense beam of cold and slow dipolar molecules.

How do chemical reactions proceed at extremely low temperatures? The answer requires the investigation of molecular samples that are cold, dense, and slow at...

Im Focus: Shrinking the proton again!

Scientists from the Max Planck Institute of Quantum Optics, using high precision laser spectroscopy of atomic hydrogen, confirm the surprisingly small value of the proton radius determined from muonic hydrogen.

It was one of the breakthroughs of the year 2010: Laser spectroscopy of muonic hydrogen resulted in a value for the proton charge radius that was significantly...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

ASEAN Member States discuss the future role of renewable energy

17.10.2017 | Event News

World Health Summit 2017: International experts set the course for the future of Global Health

10.10.2017 | Event News

Climate Engineering Conference 2017 Opens in Berlin

10.10.2017 | Event News

 
Latest News

Ocean atmosphere rife with microbes

17.10.2017 | Life Sciences

Neutrons observe vitamin B6-dependent enzyme activity useful for drug development

17.10.2017 | Life Sciences

NASA finds newly formed tropical storm lan over open waters

17.10.2017 | Earth Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>