SAGIC researchers aim to compile genetic, genomic and phenotypic data of sleep apnea patients

Published on April 11, 2013 at 6:06 AM · No Comments

As more and more data indicate that sleep apnea is linked with cardiovascular disease, stroke, diabetes and even an increase in deaths related to car accidents, an international consortium spanning five continents is working together to unravel the genetic basis for the condition.

From a scientific discovery standpoint, researchers in the Sleep Apnea Genetics International Consortium (SAGIC) are embarking on a massive undertaking. Considering those researchers are working in seven different time zones, the amount of biomedical information the group is intending to gather, combine and analyze, becomes even more remarkable.

"SAGIC's goal is to compile genetic, genomic and phenotypic data of sleep apnea patients from various ethnic backgrounds in different countries, that will allow investigators to determine the genetic basis of sleep apnea and its associated co-morbidities. This information could then lead to better ways of treating these patients," says Ulysses Magalang, MD, director of the Sleep Disorders Center at The Ohio State University Wexner Medical Center, a member institution of SAGIC. "In order to achieve that, we'll have to find new ways to collect, share and store data."

This month, SAGIC published its first piece of data in the journal Sleep. The study shows that despite being thousands of miles apart and using different equipment and computer programs, when it comes to scoring a variety of sleep apnea events to assess the severity of the condition, experienced technicians at each of the nine study sites are all interpreting the events similarly.

The study authors say that while their analysis lays the foundation for the validity of the group's future findings, the real success is that the research offers evidence that future multi-site collaborations may not need centralized data processing center in order to produce sound data.

"Collaborations like these are critical to accelerating discovery, but having a centralized center to combine and interpret data is expensive and can slow progress down," said Allan Pack, MD, Chairperson of SAGIC and director of the University of Pennsylvania Center for Sleep and Circadian Neurobiology. "Our findings have a real world application for sleep researchers planning multi-center efforts and for clinicians evaluating the findings from these collaborative efforts. We've proven that when it comes to studying sleep, despite being in different countries, we are speaking the same language."

However, the reality is that the group doesn't speak the same language. In fact there are seven languages, including Portuguese, Icelandic, German, and Mandarin Chinese that are as far apart linguistically as they are geographically.

That's where biomedical informatics expert Heather Lansky of the Ohio State University Center for Clinical and Translational Science (CCTS) and Department of Biomedical Informatics comes in. Lansky is in charge of developing the standard survey format that will be the "data backbone" for the Consortium, and for getting all that data back into REDCap, a secure, web-based application designed by Vanderbilt University to support research data capture.

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