Navigation Links
New NIST SRM helps improve diagnosis of Huntington's disease
Date:4/14/2011

A new Standard Reference Material (SRM) from the National Institute of Standards and Technology (NIST) will help clinical genetics labs accurately diagnose Huntington's disease, an inherited degenerative brain disorder that usually begins between ages 35 and 50 and progressively leads to physical impairment, dementia and death. A person whose mother or father developed Huntington's disease has a 50-50 chance of getting the currently incurable disease.

Huntington's disease results from a genetic mutation affecting approximately one in 10,000 persons. The mutation is characterized by an excessive number of repeats of a sequence of three nucleotides (the chemical building blocks of DNA), cytosine-adenine-guanine (CAG), located on the fourth of the 23 pairs of chromosomes found in every human cell. Since 1993, a genetic test has been available to count the number of CAG "triplet repeats" that exist, determining if a person will develop Huntington's disease, and if so, how severe it will be.

Individuals with up to 26 repeats are normal. Individuals with 27 to 35 repeats also are unaffected, but the number of repeats can increase in their children. Individuals with 36 to 39 repeats may or may not develop symptoms of Huntington's disease; however, if they do, it will likely be at a much later onset and slower progression than more pronounced cases. Individuals with 40 or more repeats will definitely be affected, while individuals with 60 or more repeats will develop symptoms in childhood.

Electing to be tested for Huntington's disease is an extremely difficult choice. Since a positive diagnosis undoubtedly will affect decisions about careers, relationships, having children and other life events, there is no room for error. But errors can occur sometimes because the test requires making many copies of the patient's DNA using the polymerase chain reaction (PCR), the standard technique for "amplifying" or making multiple copies of a DNA molec
'/>"/>

Contact: Michael E. Newman
michael.newman@nist.gov
301-975-3025
National Institute of Standards and Technology (NIST)
Source:Eurekalert  

Page: 1 2

Related medicine news :

1. Hormone Helps You Sniff Out Food, Study Finds
2. New educational booklet helps patients prepare for a colonoscopy
3. New warm line helps clinicians tackle patients substance abuse
4. In trial, video helps people weigh bariatric surgery pros, cons
5. MIT biologists pinpoint a genetic change that helps tumors move to other parts of the body
6. Grant helps UT Southwestern researcher study causes of preterm birth
7. New tool helps surgeons predict patients risk of complications after bariatric operations
8. Internet program reduces infant and toddler sleep problems, helps moms sleep better too
9. Mayo Clinic researchers find cardiac pacing helps epilepsy patients with ictal asystole
10. New targeted drug helps smokers stub it out
11. Surgical technique helps adult male survivors of childhood cancer regain fertility
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
New NIST SRM helps improve diagnosis of Huntington's disease
(Date:4/22/2014)... cancers are small cell lung cancers (SCLC), which ... However, researchers at Virginia Commonwealth University Massey Cancer ... leading to this resistance that may lead to ... mediating B-cell lymphoma 2 (Bcl-2) family proteins, which ... their function, this family of proteins can trigger ...
(Date:4/22/2014)... for Molecular Pathology (AMP) released a report today ... on recommendations for a molecular diagnostics curriculum at ... The report was prepared by the Medical Laboratory ... Training and Education Committee. "Our goal was to ... laboratory scientists appropriately in order to manage the ...
(Date:4/22/2014)... and rabbits, Johns Hopkins scientists have found a way ... preventing the development of atherosclerosis, the main cause of ... death among humans. The condition develops when fat builds ... narrowed and hardened, greatly reducing their ability to feed ... , In a series of experiments, described April 7 ...
(Date:4/22/2014)... in German . ... molecules, but their mode of action is complex: In ... and behavior, while at high concentrations they can cause ... analyze how redox signaling unfolds in single cells and ... been developed jointly by the teams of LMU Professor ...
(Date:4/22/2014)... a new RAND study concludes that U.S. policy makers ... device makers to develop products that produce more value. ... use, a new study suggests the study identifies options ... in the first place. The aim is to help ... health as possible and to ensure that costlier advances ...
Breaking Medicine News(10 mins):Health News:Scientists pinpoint protein that could improve small cell lung cancer therapies 2Health News:AMP publishes curriculum recommendations for medical laboratory scientists 2Health News:Scientists alter fat metabolism in animals to prevent most common type of heart disease 2Health News:Scientists alter fat metabolism in animals to prevent most common type of heart disease 3Health News:Scientists alter fat metabolism in animals to prevent most common type of heart disease 4Health News:Neuroimaging: Live from inside the cell 2Health News:US medical innovation needs smarter incentives to cut health spending, study finds 2Health News:US medical innovation needs smarter incentives to cut health spending, study finds 3
... disease are receiving implantable cardioverter-defibrillators (ICDs) to maintain proper ... the 1980s, but little is known about how well ... 1 percent of recipients. A report in the April ... the largest pediatric experience to date. It finds the ...
... In a major step toward a practical energy ... development of a new generation of sub-microscopic nanomotors that ... motors. Their study is scheduled for the May 27 ... the new study, Joseph Wang and colleagues point out ...
... Campaign Encourages Consumers to Get Active and Give Back By Logging Miles ... ... A healthy lifestyle is always,important and to encourage consumers to get active, ... Breast,Cancer Organization with a donation of up to $200,000. Running from May ...
... Management to Host Conference Call Today at 11:30 a.m. ET ... a provider of liquid nutritional, functional foods, beverages and,nutritional supplements, ... 2008., Financial and operational highlights for First Quarter ... year period to $1.6 million -- Gross profit was ...
... Fla., May 1 Blue Cross and ... David Pizzo has been appointed Market,President - ... http://www.newscom.com/cgi-bin/prnh/20080501/CLTH034 ), (Logo: http://www.newscom.com/cgi-bin/prnh/20000427/BLUELOGOA ... ), Pizzo has served in a ...
... Mich., May 1 Perrigo Company,(Nasdaq: PRGO ... Directors declared a,quarterly dividend of $0.05 per share, ... on May 25, 2008., Perrigo Company is ... distributes over-the-counter (OTC) and prescription,pharmaceuticals, nutritional products, active ...
Cached Medicine News:Health News:Largest study to date finds benefits of ICDs in children 2Health News:Bumble Bee Foods Launches BeeWell Miles; An Interactive Health and Wellness Program Benefitting the Y-Me National Breast Cancer Foundation 2Health News:Bumble Bee Foods Launches BeeWell Miles; An Interactive Health and Wellness Program Benefitting the Y-Me National Breast Cancer Foundation 3Health News:XELR8 Holdings Announces Record First Quarter Revenue 2Health News:XELR8 Holdings Announces Record First Quarter Revenue 3Health News:XELR8 Holdings Announces Record First Quarter Revenue 4Health News:XELR8 Holdings Announces Record First Quarter Revenue 5Health News:XELR8 Holdings Announces Record First Quarter Revenue 6Health News:XELR8 Holdings Announces Record First Quarter Revenue 7Health News:XELR8 Holdings Announces Record First Quarter Revenue 8Health News:David Pizzo Appointed Blue Cross and Blue Shield of Florida Market President - West Florida 2
(Date:1/15/2014)... Ky. , Jan. 15, 2014  Manufacturers, suppliers ... must be able to protect their most important ... http://photos.prnewswire.com/prnh/20130716/CL46586LOGO ) Because of ... it steadfastly remains one of the most litigious ...
(Date:1/15/2014)... R.I. , Jan. 15, 2014 MultiCell Technologies, ... filed a U.S. provisional patent application concerning composition of ... to achieve targeted tumor cell death.  ... small noncoding double stranded RNA molecules (VSRNAs) which interfere ...
(Date:1/15/2014)... , Jan. 15, 2014  According to Millennium ... technology market intelligence, the United States ... (TEO) device markets will expand moderately through 2022, ... segments. In particular, increasing interest in drug-eluting beads ...
Breaking Medicine Technology:Intellectual Property Insurance for Medical-related Products and Services 2MultiCell Technologies Files Patent Application Covering New Class of RNA Therapeutics 2MultiCell Technologies Files Patent Application Covering New Class of RNA Therapeutics 3US and European Transcatheter Embolization and Occlusion Device Market to Surpass $1.6 Billion by 2022 2US and European Transcatheter Embolization and Occlusion Device Market to Surpass $1.6 Billion by 2022 3
... a national reference laboratory and a worldwide ... ARUP offers an extensive test menu of ... clinical and anatomic pathology. Owned by the ... more than half of the nation's university ...
... is a national reference laboratory and a ... development. ARUP offers an extensive test menu ... in clinical and anatomic pathology. Owned by ... include more than half of the nation's ...
... is a national reference laboratory and a ... development. ARUP offers an extensive test menu ... in clinical and anatomic pathology. Owned by ... include more than half of the nation's ...
... is a national reference laboratory and a ... development. ARUP offers an extensive test menu ... in clinical and anatomic pathology. Owned by ... include more than half of the nation's ...
Medicine Products: