-----Original Message-----
From: NIH news releases and news items [mailto:[log in to unmask]] On
Behalf Of NIH OLIB (NIH/OD)
Sent: Wednesday, March 10, 2010 4:50 PM
To: [log in to unmask]
Subject: WHOLE GENOME ANALYSIS COMES NEARER TO USE IN ROUTINE DIAGNOSIS

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: [log in to unmask]>

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,
[log in to unmask]

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>.
  
##

To subscribe (or unsubscribe) from this list, go to
<http://service.govdelivery.com/service/subscribe.html?code=USNIH_1>.
 

__________ Information from ESET NOD32 Antivirus, version of virus signature
database 4932 (20100310) __________

The message was checked by ESET NOD32 Antivirus.

http://www.eset.com
 
 

__________ Information from ESET NOD32 Antivirus, version of virus signature
database 4932 (20100310) __________

The message was checked by ESET NOD32 Antivirus.

http://www.eset.com
 

-----------------------

To change your mail settings or leave the C-PALSY list, go here:

http://listserv.icors.org/SCRIPTS/WA-ICORS.EXE?SUBED1=c-palsy