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:2/5/2015)... Conn. , Jan. 26, 2015 NXT-ID, Inc. ... the "Company"), a biometric authentication company focused on the ... new corporate website ( http://www.nxt-id.com/ ) as part of ... smart wallet. The Company launched its new consumer website ... Gino Pereira , CEO of NXT-ID said, "Our new ...
(Date:2/5/2015)... NXT-ID, Inc. (NASDAQ: NXTD ... company focused on the growing mobile commerce market, announces ... CEO Conference on January 29 th at 10:30 ... CEO of NXT-ID will present and host a live ... wallet and its full suite of biometric technologies. Investors ...
(Date:2/5/2015)... VIEW, Calif. , Feb. 3, 2015 /PRNewswire/ ... printer technology, demand from industries such as consumer ... global market for surface mount technology (SMT) screen ... equipment to automatic control will push the adoption ... dispensers will remain steady as glue dispensers are ...
Breaking Biology News(10 mins):NXT-ID, Inc. Launches New Corporate Website As Part Of Ongoing 2015 Branding Initiatives For Wocket Smart Wallet 2NXT-ID, Inc. Launches New Corporate Website As Part Of Ongoing 2015 Branding Initiatives For Wocket Smart Wallet 3CEO of NXT-ID, Inc. to Discuss Company's Biometric Technologies at RedChip Online Conference January 29th 2CEO of NXT-ID, Inc. to Discuss Company's Biometric Technologies at RedChip Online Conference January 29th 3End-user Demand Spurs Global SMT Screen Printers and Glue Dispensers Market 2End-user Demand Spurs Global SMT Screen Printers and Glue Dispensers Market 3
... bird of many countries in Europe and Asia. Great ... has long been known individuals vary considerably in their willingness ... "fast" or "proactive" are quick explorers and are comparatively ... The differences are at least in part genetically determined and ...
... This release is available in French . , ... a new game developed by a team of bioinformaticians at ... to genetic research. "There are some calculations that the human ... recognizing a face," explained lead researcher Dr. Jrme Waldispuhl of ...
... This release is available in French . ... debilitating form of food poisoning, may be a thing of ... by the French National Institute for Agronomic Research (INRA), involving ... the contaminating E.coli bacterium is able to survive ...
Cached Biology News:Bird-brained? Birds' personalities are correlated with their hormone levels 2Forget Farmville, here's a game that drives genetic research 2Will this be the end of hamburger disease? 2
(Date:2/27/2015)... February 27, 2015 Cytokinetics, Incorporated (Nasdaq: ... February 28 with patients and health care advocates in ... Rare Disease Day®. Rare Disease Day is dedicated ... attention to the special challenges faced by patients with ... “Cytokinetics is proud to stand alongside patients and caregivers ...
(Date:2/26/2015)... YORK , Feb. 26, 2015 S&P ... Factual Stock Report coverage on MabVax Therapeutics Holdings ... (MBVX) is a clinical stage biotechnology company focused on ... unmet medical needs in the treatment of cancer. MabVax ... based on the protective immune responses generated by patients ...
(Date:2/26/2015)... , Feb. 26, 2015 /PRNewswire/ - SQI Diagnostics Inc. ... life sciences company that develops and commercializes proprietary technologies ... financial and operational results for the fiscal first quarter ... release are in Canadian dollars (CAD), unless otherwise stated. ... to win new business from our existing customers and ...
(Date:2/26/2015)... 26, 2015 Protiviti ( www.protiviti.com ), a ... the Governance Portal , designed to increase the ... (GRC) tasks across multiple business units and projects. The ... customers better align their controls with the COSO ( ... requirements. In response to client feedback, Protiviti has also ...
Breaking Biology Technology:Cytokinetics Joins Global Movement to Raise Awareness for Rare Diseases 2Cytokinetics Joins Global Movement to Raise Awareness for Rare Diseases 3Cytokinetics Joins Global Movement to Raise Awareness for Rare Diseases 4Cytokinetics Joins Global Movement to Raise Awareness for Rare Diseases 5Cytokinetics Joins Global Movement to Raise Awareness for Rare Diseases 6S&P Capital IQ Initiates Coverage on MabVax Therapeutics Holdings Inc. in S&P Capital IQ Factual Stock Reports 2S&P Capital IQ Initiates Coverage on MabVax Therapeutics Holdings Inc. in S&P Capital IQ Factual Stock Reports 3S&P Capital IQ Initiates Coverage on MabVax Therapeutics Holdings Inc. in S&P Capital IQ Factual Stock Reports 4S&P Capital IQ Initiates Coverage on MabVax Therapeutics Holdings Inc. in S&P Capital IQ Factual Stock Reports 5SQI Diagnostics Reports First Quarter Financial Results 2SQI Diagnostics Reports First Quarter Financial Results 3SQI Diagnostics Reports First Quarter Financial Results 4SQI Diagnostics Reports First Quarter Financial Results 5SQI Diagnostics Reports First Quarter Financial Results 6Protiviti Governance Portal Helps Companies Drive Governance, Risk and Compliance Productivity Across Multiple Business Units 2Protiviti Governance Portal Helps Companies Drive Governance, Risk and Compliance Productivity Across Multiple Business Units 3
... , , ... RPJ Housing, a Northern Virginia -based nonprofit provider of ... life-threatening illnesses, has just completed its annual Rebuilding Together event.  Held ... who provided an estimated $300,000 worth of donated labor. A ...
... helping physicists gain molecular level insight into the ... shape under the influence magnetic fields. Shape-memory materials ... to conventional motors and actuators. But developing practical ... larger changes in shape than most of the ...
... ... ... -- Sword Diagnostics, Inc. , committed to improving healthcare through the use of ... to accommodate planned growth. Double the size of its current space in the suburbs, ...
Cached Biology Technology:RPJ Housing's Rebuilding Together Event Brings Estimated $300,000 Worth Of Volunteer Labor to Northern VA 2Life Sciences Company Sword Diagnostics Moves Operations to Chicago 2Life Sciences Company Sword Diagnostics Moves Operations to Chicago 3
Request Info...
Spaced cover glasses to promote effective hybridization...
... The new D-LUX Detection Platform combines ... provide the most sensitive, specific, and ... Invitrogens D-LUX Detection Platform offers exceptional ... to TaqMan probes, high signal/background ratio, ...
Request Info...
Biology Products: