Navigation Links
Penn Medicine, CHOP researchers demonstrate first common genetic risk factors for autism

PHILADELPHIA Researchers have made an important step forward in understanding the complex genetic structure of autism spectrum disorders. A researcher collaboration, including geneticists from the University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia (CHOP), have detected variations along a genetic pathway that is responsible for neurological development, learning and memory, which appears to play a significant role in the genetic risk of autism. Their findings will be published online in the journal Nature on April 28.

Evidence suggests there is a strong genetic component increasing the likelihood of an autism diagnosis, estimated to impact 1 in 150 children in the United States. The study findings suggest that a particular genetic variation, found on a cluster between CDH10 and CDH9, is commonly found in children with autism, according to co-senior author Gerard Schellenberg, PhD, professor of pathology and laboratory medicine at the University of Pennsylvania School of Medicine.

"We studied more than 10, 000 children of whom more than 4, 500 had been diagnosed with an autism spectrum disorder and found a common genetic variation that increases the risk of a child developing autism, along with a rarer genetic change that contributes to some cases of autism," Schellenberg said. "This work yields important clues on what goes awry during development in children with autism and will help us focus on what is the cause of autism at a molecular level."

"It is very compelling to find evidence that mutations in genes involved in brain interconnections increase a child's risk of autism, because other autism researchers have made intriguing suggestions that autism arises from abnormal connections among brain cells during early development," said study leader Hakon Hakonarson, MD, PhD, director of the Center for Applied Genomics at The Children's Hospital of Philadelphia and associate professor of Pediatrics at the University of Pennsylvania School of Medicine.

In a second study, researchers found deleted or duplicated genes along two major central nervous system gene networks in children with autism spectrum disorders. The changes were on the ubiquitin pathway, which is responsible for regulating synaptic operations and nervous system development. One ubiquitin-related gene studied, UBE3A, was previously thought to be connected to autism, while another, PARK2, was previously found to mutate and lead to juvenile Parkinson's disease. Future research will test the effects of the missing or extra genetic copies.


Contact: Kim Guenther
University of Pennsylvania School of Medicine

Related medicine news :

1. Hofstra University to Establish New School of Medicine, Partnering with the North Shore-LIJ Health System
2. Next Step(R) Institute of Integrative Medicine, Inc. Takes Wellness to a New Level With 2008 Series of Wellness Weeks
3. Tip sheet for the Annals of Internal Medicine, April 15, 2008, issue
4. Elsevier expands Procedures Consult with emergency medicine, orthopedics and anesthesia procedures
5. McGraw-Hill Professional Redesigns AccessMedicine, Highlighting Media and Educational Features
6. AMD Global Telemedicine, Inc. Forms Telemedicine Design Group
7. Healthcare Reform Should Include Connected Health and Participatory Medicine, Says Report Submitted to President Obama by Center for Connected Health
8. McGraw-Hill Professional and JAMA Launch New Online Evidence-Based Medicine, Clinical and Educational Resource
9. Local Infertility Specialist, Dr. Rachel Bennett, Westchester Reproductive Medicine, Opens New Office in Mount Kisco
10. AMD Global Telemedicine, Inc is Pleased to Announce the Selection of its Examination Camera for the Canadian National Telehealth Videoconference Equipment RFP
11. Stanford researchers find culprit in aging muscles that heal poorly
Post Your Comments:
(Date:11/27/2015)... ... November 27, 2015 , ... MPWH, the No.1 Herpes-only dating community in the world, revealed ... 1-1 ). More than 3.7 billion people under the age of 50 – or ... to WHO's first global estimates of HSV-1 infection . , "The data shocks us ...
(Date:11/27/2015)... ... ... A simply groundbreaking television series, "Voices in America", which is hosted by Hollywood ... issues that are presently affecting Americans. Dedicated to providing the world with a wide ... subjects consumers focus on, one episode at a time. , In the latest ...
(Date:11/27/2015)... , ... November 27, 2015 , ... CBD College ... of Allied Health Education Programs (CAAHEP) awarded accreditation to its Diagnostic Medical Sonography program. ... accredited colleges, as only one of twelve colleges and universities in the state of ...
(Date:11/27/2015)... ... 27, 2015 , ... Avid collector, Andrew Hawley from Vintage Rock Posters, announces ... This is one of Joplin's most famous and beautiful concert posters. The concert was ... in Ann Arbor. The According to Hawley, "It is hard to believe that Joplin's ...
(Date:11/26/2015)... , ... November 26, 2015 , ... Inevitably when people ... customers choose to buy during the Black Friday and Cyber Monday massage ... need to search the Internet high and low to find the best massage chair ...
Breaking Medicine News(10 mins):
(Date:11/26/2015)... Nov. 26, 2015 Research and Markets ( ... Cardiac Pacemaker Market Outlook to 2019 - Rise in Cardiac ... " report to their offering. ... Boston scientific and others. --> ... Medtronic, Biotronik, Boston scientific and others. ...
(Date:11/26/2015)... DUBLIN , November 26, 2015 /PRNewswire/ ... the addition of the "2016 Future ... Drugs of Abuse Testing Market: Supplier Shares, ... report to their offering. --> ... of the "2016 Future Horizons and ...
(Date:11/26/2015)... , November 26, 2015 ... the "Self Administration of High Viscosity Drugs" ... ) has announced the addition of the ... report to their offering. --> Research ... addition of the "Self Administration of High ...
Breaking Medicine Technology: