U.S. Department of Health and Human Services
NATIONAL INSTITUTES OF HEALTH NIH News
National Institute of Neurological Disorders and Stroke (NINDS) <http://www.ninds.nih.gov/>
National Human Genome Research Institute (NHGRI) <http://www.nhgri.nih.gov/>
For Immediate Release: Wednesday, March 10, 2010
CONTACT: NINDS Office of Communications and Public Liaison, 301-496-5751, <e-mail: stimsond@xxxxxxxxxxxxx>
NINDS MEDIA AVAILABILITY
WHOLE GENOME ANALYSIS COMES NEARER TO USE IN ROUTINE DIAGNOSIS
WHAT:
For the first time, researchers have used whole genome sequencing to achieve a molecular diagnosis in a patient with a genetic disorder. The results suggest that in the near future, genome sequencing could become a routine part of medical care, both to diagnose rare disorders and help estimate the risk of common disorders.
The study was led by James R. Lupski, M.D., Ph.D. and Richard A. Gibbs, Ph.D., of the Department of Molecular and Human Genetics at Baylor College of Medicine in Houston, Texas. The researchers scanned the genome - the complete set of human genes - in an individual with the neurological disorder Charcot-Marie-Tooth disease type 1 (CMT1). The individual and three other members of his family with CMT1 all carried two disease-causing mutations in a single gene previously linked to the disorder, called SH3TC2.
The effort was funded by the National Institute of the Neurological Disorders and Stroke (NINDS) and the National Human Genome Research Institute (NHGRI), both part of the National Institutes of Health.
Studies like these are bringing geneticists closer to the goal of sequencing an individual's genome for $1,000 or less, a cost considered reasonable for routine medical practice. When the NHGRI-funded Human Genome Project began, the cost of sequencing less than 0.1 percent of the genome was about $100,000. The researchers estimate that repeating their study today would cost less than $50,000.
The researchers considered CMT a good test case for applying whole genome analysis to an individual patient because it is a disorder with many potential genetic causes. CMT has been linked to mutations in more than 31 genes, with a single gene mutation typically causing a unique variant of the disorder. In all cases, the disorder involves a breakdown of peripheral nerves that control the body's muscles and relay sensations to the brain. The most common symptoms are muscle weakness and wasting in the feet and hands.
The researchers "provide a glimpse of the future for which we need to prepare," according to an accompanying commentary by Richard P. Lifton, M.D., Ph.D., of the Department of Genetics at Yale University in New Haven, Conn.
ARTICLE:
JR Lupski et al. Whole-genome sequencing in a patient with Charcot-Marie-Tooth Neuropathy. New England Journal of Medicine, March 10, 2010.
WHO:
Story Landis, Ph.D., director, National Institute of Neurological Disorders and Stroke, is available to comment on this paper
CONTACT:
To schedule interviews, please contact Daniel Stimson, stimsond@xxxxxxxxxxxxxx
NHGRI (www.genome.gov) develops and implements technology to understand, diagnose and treat genomic and genetic diseases through its Division of Intramural Research. The NHGRI Division of Extramural Research supports grants for research and for training and career development at sites nationwide.
NINDS (www.ninds.nih.gov) is the nation's leading funder of research on the brain and nervous system. The NINDS mission is to reduce the burden of neurological disease - a burden borne by every age group, by every segment of society, by people all over the world.
The National Institutes of Health (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. It is the primary federal agency for conducting and supporting basic, clinical and translational medical research, and it investigates the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit <www.nih.gov>.
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