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:8/23/2014)... (PRWEB) August 23, 2014 Summer vacation is ... will be back in session. While shopping for school supplies ... few weeks, Batzner encourages parents and students to also spend ... “Bed bugs are excellent hitchhikers and thrive in heavily populated ... “This makes classrooms and dorms the perfect settings for bed ...
(Date:8/22/2014)... IT manager of Top10BestSEOHosting.com is a web professional who ... recently announced that GoDaddy ( http://www.top10bestseohosting.com/go/GoDaddy.com/ ) is one ... is a popular supplier of cheap web hosting, and ... affordable rates. It offers three Linux shared hosting plans. ... the length of the contract. The longest contract length ...
(Date:8/22/2014)... On Friday, Aug. 22, Liberty University ... Sciences , hosting a ceremony in its courtyard attended ... and public welfare. , The 162-member inaugural class of ... (LUCOM) joined Liberty staff, faculty, and community leaders in ... new medical school. Classes began on Monday, Aug. 4. ...
(Date:8/22/2014)... Today, Zane Benefits, the #1 Online ... Health Plans. , According to Zane Benefits, employers are ... lower the cost of healthcare without reducing coverage for ... however, can be confusing. , The new guide contains ... main types of ABHPs. It also explains the ...
(Date:8/22/2014)... Top 10 Best SEO Hosting (Top10BestSEOHosting.com) has ... highly recommended FatCow ( http://www.top10bestseohosting.com/go/FatCow.com/ ) and BlueHost ... 10 Best SEO Hosting states, “It is hard ... Actually, these companies have outperformed their competitors on ... People can get the best web hosting at ...
Breaking Medicine News(10 mins):Health News:Expert Advice for a Bed Bug-Free School Year 2Health News:Liberty University Dedicates Its New Center for Medical and Health Sciences 2Health News:Liberty University Dedicates Its New Center for Medical and Health Sciences 3Health News:Liberty University Dedicates Its New Center for Medical and Health Sciences 4Health News:FatCow Reviews Released by Top10BestSEOHosting.com 2
... of alcohol abuse costs each Canadian $463 per year. ... abuse in Canada exceed those of cancer. Released today ... Avoidable Cost of Alcohol Abuse in Canada 2002 report estimates ... would result in cost savings of about $1 billion per ...
... much the way alcohol, Alzheimer,s do , , WEDNESDAY, June ... tissue loss in brain regions that help store memory, ... , "Our findings demonstrate that impaired breathing during sleep ... and thinking," principal investigator Ronald Harper, a professor of ...
... IT will Provide Immediate Access to Vital Patient ... ... Jim Traficant,vice president of Harris Corporation,s (NYSE: HRS ) ... Care,Administration (AHCA), and provided a patient,s perspective of healthcare,policy. Traficant projected ...
... of the 1000 Genomes Project announced today that three ... have joined the international effort to build the most ... a tool for medical research. The new participants are: ... Biosystems, an Applera Corp. business, Foster City, Calif.; and ...
... Ill. Primary snoring in children may have an ... obstructive sleep apnea (OSA), according to a research abstract ... 22nd Annual Meeting of the Associated Professional Sleep Societies ... colleagues at the University of Melbourne and Monash University, ...
... cognitive behavioral intervention for insomnia delivered via the Internet ... research abstract that will be presented on Wednesday at ... Professional Sleep Societies (APSS). , The study, authored by ... on 44 participants (mostly female) with an average age ...
Cached Medicine News:Health News:Save $1 billion and 800 lives 2Health News:Save $1 billion and 800 lives 3Health News:Sleep Apnea Linked to Memory Loss 2Health News:Harris Corporation's Jim Traficant Addresses Florida Agency for Health Care Administration 2Health News:3 sequencing companies join 1000 Genomes Project 2Health News:3 sequencing companies join 1000 Genomes Project 3Health News:3 sequencing companies join 1000 Genomes Project 4Health News:3 sequencing companies join 1000 Genomes Project 5Health News:Primary snoring in children impacts cardiovascular functioning 2Health News:Primary snoring in children impacts cardiovascular functioning 3Health News:A self-help program delivered online can improve insomnia in adults 2
(Date:8/21/2014)... , Aug. 21, 2014  Vermillion, Inc. (NASDAQ: ... on gynecologic cancers and women,s health, has appointed ... and Managed Markets. Ms. Bauzon has a ... expanding payer coverage for laboratory services companies. She has ... with PerkinElmer, Inc., where she held the position of ...
(Date:8/21/2014)... 2014  eRelevance Corporation ( www.erelevancecorp.com ), a ... it has completed integration with Nextech, a popular ... and Dermatology practices. "Integration allows our ... practices using Nextech," stated Bob Fabbio , ... from the EMR we are able to automatically ...
(Date:8/21/2014)... , Aug. 21, 2014  Publicis Groupe ... Hartley , Managing Partner and Healthcare Industry Group Leader, ... 100, which recognizes the most inspiring people in the ... leaders in research and development, marketing, technology, creativity, strategy ... in 2006 as a partner in its leading Rosetta ...
Breaking Medicine Technology:Vermillion Appoints Holly B. Bauzon as VP of Sales and Managed Markets 2eRelevance Corporation Integrates with Nextech Electronic Medical Records 2Shannon Hartley Shines in PharmaVOICE 100 2
... 18, 2012  Sotera Wireless, Inc. announced that it has ... Drug Administration (FDA) for the ViSi Mobile™   System, ... in hospitals. The clearance represents a major milestone in ... system, particularly for ambulatory hospital patients. "Continuous ...
... UBM Live has revealed further details of the ... Southeast Asia (SEA) 2012. Set to debut from 10-12 May ... is the first trade show and exhibition of its kind ... ASEAN region. CPhI SEA will provide a ...
Cached Medicine Technology:Sotera Wireless Reports FDA Clearance of ViSi Mobile™ System 2Leading Pharma Ingredients Event Debuts in Growing ASEAN Market 2Leading Pharma Ingredients Event Debuts in Growing ASEAN Market 3
Katena ophthalmic burr for polishing pterygiums, includes one round diamond burr and has an storage case....
Illuminated Trial Lens Set is an attractive set of trial lenses worked to a high standard of accuracy....
Trial Lens Sets....
... is the first ... to offer two kinds ... and taurine. Cleans, rinses, ... and conditions any soft ...
Medicine Products: