Navigation Links
Rett syndrome genetic variants now available for advance testing, diagnosis & research
Date:2/6/2014

Philadelphia, PA, February 7, 2014 Despite the identification of gene mutations in methyl CpG binding protein 2 (MECP2) being linked to Rett syndrome (RS), research has been hindered by the lack of commercially available reference materials. Through collaboration between the Centers for Disease Control and Prevention (CDC) and members of the clinical-laboratory and non-profitresearch communities, 35 DNA samples containing many common RS genetic variants have now been characterized and made publicly available, eliminating a major stumbling-block for investigators and opening the possibility of earlier, more accurate diagnosis of Rett syndrome, reports The Journal of Molecular Diagnostics.

The study was conducted via the CDC Genetic Testing Reference Materials Coordination Program (GeT-RM), which aims to help the genetic testing community obtain appropriate and well-defined reference materials for inherited genetic disorders, including cancer and infectious diseases. Researchers selected eight cell lines from RS patients already available from the National Institute of General Medical Sciences' Coriell Cell Repository, which contained six of the most common mutations that cause RS, as well as one additional point mutation. In addition, DNA was obtained from 27 newly established cell lines derived from blood samples from Rett patients, which included a number of other MECP2 variants. Two of the samples were from males.

The samples were sent for DNA sequence and deletion/duplication analyses (using MLPA, semi-quantitative PCR, or array) to College of American Pathologistaccredited clinical genetic testing laboratories, and each sample was tested in between two to five laboratories. The investigators found that the results were concordant among laboratories and assay platforms.

"The panel of 35 publicly available genomic DNA samples developed and characterized as part of this study contains a wide variety of point mutations, delet
'/>"/>

Contact: Eileen Leahy
jmdmedia@elsevier.com
732-238-3628
Elsevier Health Sciences
Source:Eurekalert

Page: 1 2 3

Related biology news :

1. Mouse study shows gene therapy may be possible cure for Hurler syndrome
2. Nordic study: Few persons with metabolic syndrome adhere to nutrition recommendations
3. Obesity and nutrition are keys to avoiding metabolic syndrome
4. European young investigators network for Usher syndrome awarded E-Rare collab project
5. Gene responsible for hereditary cancer syndrome found to disrupt critical growth-regulating pathway
6. Fungus that causes white-nose syndrome in bats proves hardy survivor
7. Experts clarify conflicting criteria for diagnosing polycystic ovary syndrome
8. PharmaPoint: Dry Eye Syndrome - India Drug Forecast and Market Analysis to 2022
9. International Rett Syndrome Foundation chief science officer receives prestigious military awards
10. Breast cancer surgery linked to swollen arm syndrome
11. ASU-Mayo research project targets carpal tunnel syndrome diagnosis
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/15/2015)... , June 15, 2015 A ... from Telstra reveals the majority of US consumers using mobile ... via biometrics, such as fingerprint and voiceprint, instead of having ... According to Telstra,s " Mobile Identity   -   ... report, with smartphones now the primary channel used by ...
(Date:6/11/2015)... 11, 2015 Daon, a global leader ... its IdentityX Mobile Authentication Platform v4.0 has been ... is an industry consortium launched in 2013 to ... stronger authentication.  In order to receive certification, a ... series of tests that measure compliance and ensure ...
(Date:6/9/2015)... 09, 2015 Research and Markets  ( ... "Gesture Recognition & Touchless Sensing Market by ... & Others), Product (Biometric & Sanitary Equipment) & ... report to their offering. The total ... to reach $ 23.55 Billion by 2020 at ...
Breaking Biology News(10 mins):One in Four US Consumers Would Share Their DNA With Their Bank to Secure Financial and Personal Information, Telstra Report Finds 2One in Four US Consumers Would Share Their DNA With Their Bank to Secure Financial and Personal Information, Telstra Report Finds 3One in Four US Consumers Would Share Their DNA With Their Bank to Secure Financial and Personal Information, Telstra Report Finds 4Daon's IdentityX Mobile Authentication Platform One of First Products to be Certified by FIDO Alliance 2Global Gesture Recognition & Touchless Sensing (Technology, Application & Products) Market 2015-2020 2
... flu spread from Mexico to Texas and then fanned out ... behavior. Families kept children home from school, postponed trips to ... so doing, the American population may have inadvertently altered the ... the spread of emerging infectious diseases, and how the spread ...
... 4 April 2009 | An international symposium ... the use of nuclear technologies to enhance animal nutrition and ... can be transmitted to humans, such as swine and avian ... over 100 countries will present up-to-date findings for solving or ...
... a relatively widespread phenomenon, the experts have still not been ... of workplace abuse or bullying. Basing their work on previous ... Madrid and Jos Lus Graa, of the Faculty of Psychology ... as a "process of systematic and repeated aggression by a ...
Cached Biology News:Scientists examine perceptions of risk and the spread of disease 2FAO/IAEA Symposium to address animal production and health 2Bullies have harassed 14 percent of workers over past 6 months 2
(Date:7/1/2015)... ... July 01, 2015 , ... The next-generation sequencing (NGS) clinical ... segments, including the molecular diagnostics industry. BCC Research reveals in its new report that ... lower test costs, and a growing need for better diagnostics as part of a ...
(Date:7/1/2015)...  Axovant Sciences Ltd. (NYSE:  AXON), a leading ... dementia, today announced that the company will host ... p.m. EDT following its presentation of RVT-101 clinical ... (AAIC). The event will include ... Lawrence Friedhoff , Chief Development Officer, will present ...
(Date:7/1/2015)... InferMed , s ... will augment Elsevier ... olutions suite   Elsevier , a world-leading ... announced today the acquisition of  InferMed , a ... InferMed,s Arezzo technology supports clinicians in choosing the most ...
(Date:7/1/2015)...  UCB, a multinational biopharmaceutical company, and Genpact ... designing, transforming, and running intelligent business operations, have ... their close collaboration in driving transformation that achieved ... (GBS) finance organization. The Aecus Innovation ... together effectively to embrace the innovative promise of ...
Breaking Biology Technology:NGS-Based Diagnostics, the ‘Must-Have Platform’, Sends Market Segment CAGRs Soaring According to BCC Research 2NGS-Based Diagnostics, the ‘Must-Have Platform’, Sends Market Segment CAGRs Soaring According to BCC Research 3Axovant Sciences To Host Investor Briefing And Live Webcast During AAIC 2015 Meeting 2Axovant Sciences To Host Investor Briefing And Live Webcast During AAIC 2015 Meeting 3Elsevier Acquires InferMed, Provider of Clinical Decision Support Technology 2Elsevier Acquires InferMed, Provider of Clinical Decision Support Technology 3Elsevier Acquires InferMed, Provider of Clinical Decision Support Technology 4UCB and Genpact Receive Aecus Innovation Award for Success in Global Business Services 2UCB and Genpact Receive Aecus Innovation Award for Success in Global Business Services 3UCB and Genpact Receive Aecus Innovation Award for Success in Global Business Services 4UCB and Genpact Receive Aecus Innovation Award for Success in Global Business Services 5
... Calif., Jan. 16 Varian, Inc.,(NasdaqGS: VARI) today announced ... temporary positions and to close certain facilities. , ... in the global economic environment,we are taking proactive steps ... to demand fluctuations while continuing to invest in new ...
... Jan. 16 Despite difficult,financial times and flat federal ... be implemented rapidly and at modest cost --,can yield ... three leaders,of the National Cancer Institute (NCI) in a ... (Logo: http://www.newscom.com/cgi-bin/prnh/20080627/CLF051LOGO ) , ...
... A handheld, ultra-portable device that can recognize and immediately ... compounds may eventually be possible, using a method that ... circuit chips, according to Penn State researchers., "Probably one ... circuit is to place the wires accurately," says Theresa ...
Cached Biology Technology:Varian, Inc. Announces Cost Reduction Plan 2National Cancer Institute: Battling Cancer and a Recession 2National Cancer Institute: Battling Cancer and a Recession 3Easy assembly of electronic biological chips 2
... Liquid. In 100 mM KCl, 20 ... 20% glycerol, pH 7.9. AVOID FREEZE/THAW CYCLES. Human ... protein of 765 amino acids encoded by a ... positive and negative supercoiled DNAs without the requirement ...
RNase-Free DNase 50 l...
Request Info...
... is a DNA-dependent RNA polymerase which is ... It efficiently synthesizes in vitro transcripts from ... from a T7 promoter. Transcripts can ... in vitro translation, substrates in RNA processing ...
Biology Products: