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Environmental Factor, January 2012

Seminar explores the potential of bioinformatics in autism research

By Ian Thomas

NIEHS Director Linda Birnbaum, Ph.D.

Birnbaum noted that autism cases among boys outnumber those of girls, 4 to 1. (Photo courtesy of Steve McCaw)

Geraldine Dawson, Ph.D.

Dawson outlined Autism Speaks’ ongoing commitment to genetic and environmental health research. (Photo courtesy of Steve McCaw)

Dusan Bosnjakovic (center) and Heather Volk, Ph.D. (right)

Leading minds from the genetic, environmental, and technological fields listened as speakers discuss the collective impact of all three on public health, including Autism Speaks’ Dusan Bosnjakovic, center, and NIEHS grantee Heather Volk, Ph.D., right. (Photo courtesy of Steve McCaw)

Autism experts from around the country gathered Nov. 29-30 at the Marriott in Research Triangle Park, N.C., for a two-day discussion sponsored by NIEHS on bioinformatics and its role in autism research. Focusing on the genetic and environmental causes, the group outlined a number of cutting-edge techniques for taking advantage of leading-edge computational and screening approaches to share information, generate new hypotheses, and expand the existing knowledge base surrounding autism spectrum disorders (ASD).

“At present, NIEHS commits roughly $7 million a year to autism research and, while we’ve made some great progress in recent years, we need to do more,” said NIEHS/NTP Director Linda Birnbaum, Ph.D., a member of the U.S. Department of Health and Human Services’ Interagency Autism Coordinating Committee. (http://iacc.hhs.gov/)  “According to the latest figures from the CDC [Centers for Disease Control and Prevention], nearly 1 in 100 kids are affected by autism. Meetings like this help us work toward the goal of more effective treatment and prevention.”

When genes and the environment collide

A major theme throughout the event was that, while genetic and environmental factors must always be studied individually, it is the combined influence of both that could prove vital to discovering new methods of treatment and prevention.

“All too often in autism research, the genetic viewpoint is seen as a competitor to the environmental viewpoint when it comes to causation,” said Cindy Lawler, Ph.D., a scientific program administrator for the NIEHS Centers for Children's Environmental Health and Disease Prevention Research.“ Our goal for this meeting was to bring members of both sides together in the hopes of fostering a greater understanding, so that one can actually inform the other, rather than eclipse it.”

Further complicating the matter is the misperception that autism is a singular disease, Lawler added.

“It’s key to remember that autism is actually a group of neurodevelopmental disorders,” said Autism Speaks’ Chief Science Officer Geraldine Dawson, Ph.D. (http://www.autismspeaks.org/about-us/leadership#geri)  “Even though each disorder contains the same three core symptoms — social impairment, communication impairment, and restricted range of activities — it’s important to recognize that this condition involves multiple influences and etiologies, with environmental factors being one piece of this complex puzzle.” 

The technological edge

Bioinformatics is the application of computer and information technology to analyze, dissect, and catalog biological data for the purposes of formulating and testing new scientific hypotheses. This involves the use of numerous informatics resources, such as databases, modeling and imaging programs, and data mining software, among others.

“All of the information contained in our database comes directly from the scientific literature itself,” said Allan Peter Davis, Ph.D., project manager for the Comparative Toxicogenomics Database, (http://ctdbase.org/)  which is funded in part by NIEHS. “So, for instance, if a scientist has a question about a particular gene-disease relationship, he or she can simply track that piece of data back to the original source material.”

Still, Davis and others agree that automated statistics can only go so far.

“We hire professional Ph.D. curators who do nothing but read these papers and look specifically for chemical-gene-disease interactions, which are then formatted and cataloged into the database. This human element is crucial because it helps to eliminate a lot of the factual ambiguities that basic text mining tends to create,” he said.

A complex approach for a complex problem

“Our number one focus at NIEHS has always been on prevention,” said Birnbaum. “As we all know, autism is a complex group of disorders, which will require complex approaches in order to better understand. Bioinformatics is one such tool that allows us to do that.”

(Ian Thomas is a public affairs specialist in the NIEHS Office of Communications and Public Liaison and a regular contributor to the Environmental Factor.)




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