Navigation Links
Next-gen sequencing identifies genes associated with speech disorder
Date:10/25/2013

A collaborative team of researchers has used next generation sequencing to identify clinically relevant genetic variants associated with a rare pediatric speech disorder. The findings are published in the September 16, 2013 issue of the Journal of Neurodevelopmental Disorders http://www.jneurodevdisorders.com/content/5/1/29.

Childhood apraxia of speech (CAS) is a rare, severe speech disorder that in some patients also affects cognitive, language, and learning processes.

In this study, Elizabeth Worthey, PhD, assistant professor of pediatrics (genomic pediatrics and bioinformatics) at the Medical College of Wisconsin, working with Dr. Lawrence Shriberg at the Waisman Center, University of Wisconsin Madison and their colleagues used whole exome sequencing to search for variants associated with CAS.

Prior studies have identified a few genes associated with CAS. In this study, ten pediatric patients were sequenced, and in eight of the cases, clinically significant variants associated with CAS were identified. In some cases patients were found to have apparently deleterious variants in more than one gene. The findings both confirmed previous reports of candidate causal genes and identified novel candidate associations.

"This study exemplifies the potential productivity of whole exome sequencing for complex neurodevelopmental disorders such as CAS. The current list price to test individual genes is far in excess of the cost of whole exome, and it is also more time effective to perform these tests concurrently rather than looking at one gene at a time," said Dr. Worthey. "It is likely that a significant proportion of patients with complex phenotypes will be found to have deleterious variants in multiple genes; single gene testing would be unlikely to identify such cases."


'/>"/>

Contact: Maureen Mack
mmack@mcw.edu
414-995-4744
Medical College of Wisconsin
Source:Eurekalert

Page: 1

Related biology news :

1. LABS, Inc. Launches Suite of Next-Generation Test Offerings; Focuses on Expanding Complex Biologic Testing Portfolio in 2012
2. Next-generation sequencing technology opens doors to discoveries
3. RIT leads development of next-generation infrared detectors
4. UT Dallas researchers awarded $4.3 million to create next-generation technologies
5. Marvin Test Solutions Demonstrates Next-Generation Armament Test Solutions at Paris Air Show
6. Droplet Digital™ PCR provides accurate quantification of next-generation sequencing libraries
7. Powerful sequencing technology decodes DNA folding pattern
8. Sequencing works in clinical setting to help -- finally -- get a diagnosis
9. The sequencing of the tomato genome
10. DNA Sequencing: Emerging Technologies and Applications
11. University of North Texas Health Science Center Advances Forensic Research by Investing in Semiconductor DNA Sequencing Technology
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/5/2017)... Today HYPR Corp. , leading innovator ... of the HYPR platform is officially FIDO® Certified ... architecture that empowers biometric authentication across Fortune 500 enterprises ... over 15 million users across the financial services industry, ... product suites and physical access represent a growing portion ...
(Date:3/30/2017)... , March 30, 2017 The research team ... for three-dimensional (3D) fingerprint identification by adopting ground breaking 3D fingerprint ... new realm of speed and accuracy for use in identification, crime ... affordable cost. ... A ...
(Date:3/24/2017)... The Controller General of Immigration from Maldives Mr. Mohamed ... received the prestigious international IAIR Award for the most innovative high security ... ... Maldives Immigration Controller General, ... picture on the right) have received the IAIR award for the "Most ...
Breaking Biology News(10 mins):
(Date:10/10/2017)... ... October 10, 2017 , ... USDM ... firm for the life sciences and healthcare industries, announces a presentation by Subbu ... , The presentation, “Automating GxP Validation for Agile Cloud Platforms,” will present a ...
(Date:10/9/2017)... ... October 09, 2017 , ... At its national board ... Stubbs, a professor in Harvard University’s Departments of Physics and Astronomy, has been selected ... member of the winning team for the 2015 Breakthrough Prize in Fundamental physics for ...
(Date:10/7/2017)... ... October 06, 2017 , ... ... Hi-C-based genomic technologies, launched its ProxiMeta™ Hi-C metagenome deconvolution product, featuring the ... and accompanying cloud-based bioinformatics software to perform Hi-C metagenome deconvolution using their ...
(Date:10/5/2017)... ... ... LabRoots , the leading provider of educational and interactive virtual events ... cancer research with a month-long promotion supporting the advancement of breast cancer research with ... promo code PinkRibbon to get 10 percent off their purchase of every the “Cancer ...
Breaking Biology Technology: