Navigation Links
Next-gen sequencing identifies genes associated with speech disorder

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

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
Medical College of Wisconsin

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:
(Date:5/9/2016)... , UAE, May 9, 2016 ... when it comes to expanding freedom for high net ... Even in today,s globally connected world, there is ... conferencing system could ever duplicate sealing your deal with ... obtaining second passports by taking advantage of citizenship via ...
(Date:4/26/2016)... and LONDON , April 26, ... of EdgeVerve Systems, a product subsidiary of Infosys ... announced a partnership to integrate the Onegini mobile ...      (Logo: ) ... customers enhanced security to access and transact across ...
(Date:4/15/2016)... Research and Markets has announced ... 2016-2020,"  report to their offering.  , ... global gait biometrics market is expected to grow ... 2016-2020. Gait analysis generates multiple variables ... to compute factors that are not or cannot ...
Breaking Biology News(10 mins):
(Date:6/27/2016)... ... June 27, 2016 , ... ... Amgen, will join the faculty of the University of North Carolina Kenan-Flagler ... of strategy and entrepreneurship at UNC Kenan-Flagler, with a focus on the school’s ...
(Date:6/24/2016)... ... , ... While the majority of commercial spectrophotometers and fluorometers use the z-dimension ... are higher end machines that use the more unconventional z-dimension of 20mm. Z-dimension ... bottom of the cuvette holder. , FireflySci has developed several Agilent flow cell ...
(Date:6/23/2016)... - FACIT has announced the creation of a ... Propellon Therapeutics Inc. ("Propellon" or "the Company"), to ... of first-in-class WDR5 inhibitors for the treatment of ... an exciting class of therapies, possessing the potential ... patients. Substantial advances have been achieved with the ...
(Date:6/23/2016)... 23, 2016  The Biodesign Challenge (BDC), a university ... to harness living systems and biotechnology, announced its winning ... New York City . ... showcased projects at MoMA,s Celeste Bartos Theater during the ... MoMA,s senior curator of architecture and design, and ...
Breaking Biology Technology: