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:10/15/2014)... to bacterial pneumonia in female mice to an enzyme ... are naturally more resistant to respiratory infections than males. ... increased resistance to bacterial pneumonia in female mice is ... They also show that this enzyme is ultimately activated ... , The team, lead by Professor Lester Kobzik at ...
(Date:10/15/2014)... , Oct. 15, 2014   Neurotechnology , ... announced the availability of the VeriLook Surveillance ... 3.0 provides real-time biometric face identification using live ... surveillance cameras. The new version not only identifies ... people from objects while they are moving through ...
(Date:10/14/2014)... 14, 2014)—It,s been millions of years since T. ... led by Ohio University scientists is breathing life back ... through dinosaur snouts. The research has important implications for ... but to enhance the sense of smell and cool ... said Ohio University doctoral student Jason Bourke, lead author ...
Breaking Biology News(10 mins):VeriLook Surveillance 3.0 SDK Identifies Faces and Moving Objects, Differentiates Pedestrians from Other Moving Objects in Video Surveillance Systems 2VeriLook Surveillance 3.0 SDK Identifies Faces and Moving Objects, Differentiates Pedestrians from Other Moving Objects in Video Surveillance Systems 3Dinosaur breathing study shows that noses enhanced smelling and cooled brain 2Dinosaur breathing study shows that noses enhanced smelling and cooled brain 3
... College students often spend their free time thinking about ... taking it to the next level. They,re using genetic ... in wine that,s been shown to reduce cancer and ... be entered in the International Genetically Engineered Machine (iGEM) ...
... Infectious Diseases (NAID), one of the National Institutes of ... Washington (UW) to use systems biology approaches to comprehensively ... networks that are induced or altered during the course ... program will be led by Dr. Michael Katze, UW ...
... October 16, 2008 Two new articles examine the ... health disparities. The studies, published in American Journal ... of hypertension and cardiovascular disease present in African Americans ... that these low birth weights may be a result ...
Cached Biology News:Better beer: College team creating anticancer brew 2Better beer: College team creating anticancer brew 3NIAID funds studies of how SARS and bird flu evade antiviral responses 2Racial disparities in cardiovascular health linked to birth weight, slavery 2Racial disparities in cardiovascular health linked to birth weight, slavery 3
(Date:10/22/2014)... Diego, CA (PRWEB) October 22, 2014 ... balances from Sartorius, A & D Weighing, Rice ... Sartorius CPA Semi-Micro Balance . The Sartorius CPA ... for an affordable high-quality, precise, and user-friendly laboratory ... manufacturing of laboratory equipment, their laboratory balances are ...
(Date:10/22/2014)... Hill, SC (PRWEB) October 22, 2014 ... expansion of its cardiovascular pharmacogenetics menu, which enables ... patient outcomes. With PCLS’s evidence-based results, healthcare ... needs and optimize their therapy, while minimizing risks ... In the U.S., according to the FDA [1] ...
(Date:10/22/2014)... --  Synthetic Biologics, Inc. (NYSE MKT: SYN), a ... and diseases, announced today that the U.S. Patent and ... a composition of matter patent application that covers the ... This is Synthetic Biologics, first allowed patent application directly ... the Company,s extensive C. difficile patent estate. ...
(Date:10/22/2014)... , Oct. 22, 2014 Nuvilex, Inc. ... approximately 400 million people worldwide are living with diabetes, ... people by 2030.  The global market for diabetes treatments ... approximately 330,000 people worldwide died from pancreatic cancer.  Pancreatic ... due to cancer in the United States ...
Breaking Biology Technology:Pipette.com Launches the Addition of Sartorius CPA Semi-Micro Balance to Their Product Portfolio with Special Promotional Pricing 2Pipette.com Launches the Addition of Sartorius CPA Semi-Micro Balance to Their Product Portfolio with Special Promotional Pricing 3PCLS Announces Expansion of Cardiovascular Pharmacogenetic Testing Menu 2PCLS Announces Expansion of Cardiovascular Pharmacogenetic Testing Menu 3Synthetic Biologics Announces Allowance of Key U.S. Composition of Matter Patent for C. difficile Program 2Synthetic Biologics Announces Allowance of Key U.S. Composition of Matter Patent for C. difficile Program 3Synthetic Biologics Announces Allowance of Key U.S. Composition of Matter Patent for C. difficile Program 4Nuvilex Brief Analyst Report: Thinking Outside the Box by BrokerBank Securities, Inc. 2
... consecutive year, the City of Madison received recognition ... in the country. , ,In its 2006 Digital Survey ... research and advisory institute on information technology and best practices ... top user of technology in its 125,000-249,999 population category. Madison ...
... Wauwatosa, Wis. - A Medical College of Wisconsin ... work to isolate, grow, and identify a new type of ... to have the potential for diversification. , ,The readily-available adult ... , ,According to the Medical College, the team recently ...
... symposium presented last week at the Milwaukee School ... impressive as their messages. , ,Mary Glass of ... is championing the issue for Milwaukee neighborhoods, delivered a ... everyone the critical opportunity to take advantage of what ...
Cached Biology Technology:Medical College team seeks stem cell patent 2Medical College team seeks stem cell patent 3Handicapping Milwaukee's wireless initiative 2Handicapping Milwaukee's wireless initiative 3Handicapping Milwaukee's wireless initiative 4Handicapping Milwaukee's wireless initiative 5
... CL3 series is designed to enhance ... clinical applications at a reasonable cost. ... quick connect rotors and various biocontainment ... interface allows you to control and ...
PP2B-Abeta (C-20)...
DNA Polymerase I Large (Klenow) Fragment is a DNA polymerase that lacks the 5'Cut Site3' exodeoxyribonuclease activity of intact DNA Polymerase I but it contains the 3'Cut Site5' exodeoxyribonuclease...
... a fully licensed, high throughput, water bath thermal ... to 24 microplates. This equates to 9,216 reactions ... A robotic arm rapidly transfers a basket of ... ramping times that are considerably faster than those ...
Biology Products: