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Dealing with reams of data

Using Web-based tools they developed to sift through reams of data, scientists from the Kennedy Krieger Institute and Johns Hopkins hope to unravel the genetics of neurological problems associated with Down syndrome, autism and lead poisoning.

Their search starts with microarrays, or so-called "gene chips," which measure the activity of tens of thousands of genes all at once. By analyzing the pattern of gene activity in brain tissue, the scientists hope to find genes that are more or less active than normal and that may, therefore, be involved in causing problems.

On Feb. 16 at the annual meeting of the American Association for the Advancement of Science, Jonathan Pevsner, Ph.D., will demonstrate how two tools they developed, called SNOMAD and DRAGON, can be used to find the needle in the haystack of microarray data. As an example, Pevsner applied the programs to microarray data from Down syndrome.

"In some conditions, like autism, the biological cause is still unclear, but even in Down syndrome, which we know is the result of having an extra copy of chromosome 21, we don't know exactly what genes or processes lead to the neurological changes," says Pevsner, associate professor of neurology at Kennedy Krieger and an associate professor of neuroscience at the Johns Hopkins School of Medicine.

While it makes sense that all chromosome 21 genes would be more active than normal in Down syndrome, no one has ever proved it. In his presentation and in an upcoming issue of the journal Genomics, Pevsner will report that using microarrays (and DRAGON) showed that, indeed, as a group, chromosome 21 genes are dramatically overexpressed.

"There's no smoking gun on chromosome 21 in our initial analysis, but further investigation might reveal specific genes that influence the severity of the condition," says Pevsner.

In addition to dealing with the complexity that comes with receiving a mountain o
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Contact: Joanna Downer
jdowner1@jhmi.edu
410-614-5105
Johns Hopkins Medical Institutions
16-Feb-2003


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