Navigation Links
Penn Medicine, CHOP researchers demonstrate first common genetic risk factors for autism
Date:4/28/2009

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
kim.guenther@uphs.upenn.edu
215-200-2312
University of Pennsylvania School of Medicine
Source:Eurekalert

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:
*Name:
*Comment:
*Email:
(Date:3/28/2017)... ... March 28, 2017 , ... Alert Sentry Group LLC., a ... Personal Emergency Response Systems), the iSAFE and the iSAFE Plus. These iSAFE products are ... of their kind, the iSAFE and iSAFE Plus offer direct GPS Location and two-way ...
(Date:3/28/2017)... ... March 28, 2017 , ... Calibration, ... to ensuring high-quality results and maintaining GMP and USP compliance. In a new ... accordance with GMP requirements " these requirements are explained. The challenge is ...
(Date:3/28/2017)... , ... March 28, 2017 , ... ... measurement of corrosive ions found in power plant water and steam. , Chlorides ... as turbines and boilers, leading to extensive maintenance and unplanned shutdowns. Monitoring these ...
(Date:3/28/2017)... ... March 28, 2017 , ... ... offered by the American Association of Integrative Medicine and available for application on ... at the AutismOne 2017 Conference in Colorado Springs. , Ed Arranga, president of ...
(Date:3/28/2017)... ... March 28, 2017 , ... Silicon Valley Hair Institute, the San Francisco ... blog post about women’s hair loss. Although hair transplant procedures can be seen as ... Menopause or genetics can be two reasons a woman may see her hair thinning. ...
Breaking Medicine News(10 mins):
(Date:3/27/2017)... LONDON , March 27, 2017 ... require to better understand Eli Lilly and its partnering interests ... Alliance since 2010 report provides an in-depth insight into the ... companies. On demand company reports are prepared upon ... deal and company data. The report will be ...
(Date:3/27/2017)... VANCOUVER, British Columbia , March 27, 2017 /PRNewswire/ ... of Directors has appointed William "Bill" Dubiel as President ... Dubiel was also elected to the Board of Directors ... serve as the Executive Chairman of LightIntegra. ... become LightIntegra,s next President and Chief Executive Officer. We,ve ...
(Date:3/27/2017)... and VANCOUVER, British Columbia, March 27, 2017 /PRNewswire/ ... (the "Company" or "Sophiris"), a clinical late-stage biopharmaceutical ... patients with urological diseases, today reported fourth quarter ... corporate highlights. Key Corporate Highlights: ... Development for Localized Prostate Cancer. During 2016, the ...
Breaking Medicine Technology: