Navigation Links
Autism Genome Project delivers genetic discovery
Date:4/24/2014

"This result warrants an immediate referral to a neurologist," explains senior author Stephen Scherer of the Toronto's Hospital for Sick Children and the University of Toronto. Similarly, CNV testing indicated a high risk for muscular dystrophy in several of the autism families and identified syndromes associated with heart problems in others.

CNVs are genetic changes that involve duplication or deletion of entire segments of DNA. They do not typically show up on standard genetic tests which search for "spelling mistakes" in the DNA letters that compose a gene. Those standard tests identify a clear genetic autism link in only 15 to 20 percent of the cases.

"This report and its extensive supplements should become a new guidebook for medical geneticists working with families affected by autism," Dr. Scherer says.

In addition, the study added dozens of genes to the growing list of those that contribute to the development of autism. Surprisingly, the autism genes identified through CNV testing had little overlap with those detected using standard exome gene sequencing, yet researchers say they affect the same brain pathways.

"These gene discoveries will help guide further research on autism subtypes and their treatment," Dr. Scherer says.

In response, the investigators urge medical geneticists to add CNV testing to the standard gene tests for autism and to consult medical recommendations for the many autism-linked syndromes that CNV testing can reveal. CNV testing is currently available, though it's not typically part of standard genetic testing for autism. Whole genome sequencing is the next step in genetic testing for Autism but is not yet widely available in ordinary medical settings. Autism Speaks has taken a world-leadership position in in this direction with its Au
'/>"/>

Contact: Steffanie Marchese
steffanie.marchese@autismspeaks.org
646-345-8537
Autism Speaks
Source:Eurekalert  

Page: 1 2 3

Related biology news :

1. Holding a mirror to brain changes in autism
2. Autism risk gene linked to differences in brain structure
3. Autism Speaks awards $1.1 million to fund high priority studies
4. Spontaneous gene glitches linked to autism risk with older dads
5. Gene mutation identified as contributor to autism spectrum disorders
6. Researchers across North America team up to find genetic markers for autism
7. New genes contributing to autism and related neurodevelopmental disorders uncovered
8. Research shows how PCBs promote dendrite growth, may increase autism risk
9. Common genetic variants identify autism risk in high risk siblings of children with ASD
10. MindSpec launches online Autism Reading Room
11. New treatment for irritability in autism
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Autism Genome Project delivers genetic discovery
(Date:3/11/2015)... March 11, 2015   The Sync Project™ ... to scientifically measure and harness music to improve ... biometrics and objective measurements of physiology, enabling the ... scale in large populations. It is designed for ... clinicians perform rigorous studies and accelerate the discovery ...
(Date:3/10/2015)... 10, 2015   Tute Genomics , pioneer in ... by next-generation sequencing company PrimBio Research Institute ... targeted gene panel interpretation. PrimBio, a certified ... most current technologies to support the work of experts ... offers two types of exome sequencing services: 1) Targeted ...
(Date:3/4/2015)... DUBLIN , Mar. 04, 2015 Research ... announced the addition of the "Global Biometrics ... their offering. The market for biometric ... CAGR of around 14% till 2020 ... will be increasing security needs, government projects and ...
Breaking Biology News(10 mins):Introducing The Sync Project, a Global Collaboration Harnessing the Scientific Potential of Music for Health 2Introducing The Sync Project, a Global Collaboration Harnessing the Scientific Potential of Music for Health 3PrimBio Research Selects Tute as Whole Exome Analysis Provider, Creating Integrated, End-to-End Solution for Next-Generation Sequencing & Data Analysis 2PrimBio Research Selects Tute as Whole Exome Analysis Provider, Creating Integrated, End-to-End Solution for Next-Generation Sequencing & Data Analysis 3Global Biometrics Market Forecast and Opportunities, 2020 2Global Biometrics Market Forecast and Opportunities, 2020 3
... PARK, MD, Nov. 25, 2008 -- Researchers in Ohio ... magnetic resonance -- the physical phenomenon that allows MRI ... the human body. Their discovery, a new mathematical ... informative and sharper images. As described in ...
... -- Dieters or those who consume fewer calories during flu ... virus, according to research by Michigan State University nutritional immunology ... November issue of the Journal of Nutrition , Gardner ... to die during the first few days of infection than ...
... The Oklahoma Experimental Program to Stimulate Competitive Research (EPSCoR) ... National Science Foundation (NSF) and the Oklahoma State Regents ... annual support is renewable for the next five years ... new theme area, "Building Oklahoma,s Leadership Role in Cellulosic ...
Cached Biology News:New discovery may enhance MRI scans, lead to portable MRI machines 2Feed a cold, feed a fever: Research shows calorie cut makes it harder to fight flu 2Oklahoma EPSCoR receives $20 million for biofuels research 2
(Date:3/26/2015)... 26, 2015 PRC Clinical, a Silicon-Valley ... several management and executive appointments effective immediately. , Mike ... (CFO) and member of the Board of Directors. Daniel ... and Sue Dowden will assume the position of Senior ... Chief Operations Officer (COO), has been appointed to the ...
(Date:3/26/2015)... and CINCINNATI , ... plc (LSE: SHP, NASDAQ: SHPG ) and ... three-year, broad research collaboration for rare diseases. The goal ... novel therapies to treat rare diseases with high ... capabilities with Cincinnati Children,s research expertise. As a ...
(Date:3/26/2015)... 26, 2015 "In America," the popular news ... States that is hosted by legendary film actor James Earl ... botany in an upcoming segment. , Botany is commonly ... it is actually quite a bit more complicated than that. ... types of living organisms, from the smallest bacteria known to ...
(Date:3/25/2015)... 2015 Agnition announced today that it ... Farmer, airing for the first time at 7:30 a.m. ... Farmer will explore the extremely important role soil microbes ... a patented Microbial Catalystâ„¢ technology that enhances soil and ... segment will air again on April 28. , A ...
Breaking Biology Technology:PRC Clinical Announces Key Management Appointments and Launches East Coast Operations 2PRC Clinical Announces Key Management Appointments and Launches East Coast Operations 3Shire and Cincinnati Children's Establish Rare Disease Research Collaboration 2Shire and Cincinnati Children's Establish Rare Disease Research Collaboration 3Shire and Cincinnati Children's Establish Rare Disease Research Collaboration 4Shire and Cincinnati Children's Establish Rare Disease Research Collaboration 5Agnition to be Featured In Upcoming Episode of American Farmer on RFD-TV 2
... ... out of top five ,global pharmaceutical companies. , ... Rochester, NY (PRWEB) December 1, 2009 -- iCardiac Technologies, ... today that a top five pharmaceutical company has selected iCardiac as a preferred vendor ...
... ... veteran of the high-technology industry, has formed nanoEdge™ Technologies, a business development and intellectual ... to invest in promising technologies and act as a nanotechnology incubator. , ... Monterey, CA (PRWEB) December 1, ...
... Mass November 30, 2009 An international ... and ETH Zrich have demonstrated compact, multibeam, and ... the light spectrum (infrared). By contrast, typical lasers ... wavelength. The innovative multibeam lasers have potential use ...
Cached Biology Technology:Another Top Five Pharmaceutical Company Selects iCardiac as Preferred Provider of ECG Core Lab Services 2Silicon Valley Veteran Launches New Venture on the “nanoEdge” of the Emerging Nanotechnology Revolution 2Silicon Valley Veteran Launches New Venture on the “nanoEdge” of the Emerging Nanotechnology Revolution 3Silicon Valley Veteran Launches New Venture on the “nanoEdge” of the Emerging Nanotechnology Revolution 4Scientists demonstrate multibeam, multi-functional lasers 2
p21 Ras Immunogen: Recombinant C-H-ras p21(val-12). Storage: 4 C...
Rabbit polyclonal to Myosin VIIa (rating: *****) ( Abpromise for all tested applications). entrezGeneID: 4647 SwissProtID: Q13402...
Rabbit polyclonal to GPCR G2A ( Abpromise for all tested applications). entrezGeneID: 29933 SwissProtID: Q9UNW8...
6-keto Prostaglandin F1α EIA Antiserum 6-keto-PGF1alpha EIAs prostaglandins antisera enzyme immunoassays reagents 6-keto-PGF1.alpha....
Biology Products: