by Courtney McGrath
The complex workings of living creatures have fascinated thinkers for centuries. In the fourth century B.C., Aristotle observed hundreds of species, dissecting dozens, in the hopes of classifying them logically. Revered Renaissance artist Leonardo da Vinci performed crude, but innovative, experiments, injecting hot wax into the cerebral ventricles of an ox, dissecting the ox after the wax had hardened in order to discern the precise shape of the ventricles.

The questions asked by scientists haven’t changed much since Leonardo’s day, says Dr. Jonathan Pevsner, an associate professor and molecular biologist at Kennedy Krieger. “We’re still asking how people develop, how metabolism works.” While Dr. Pevsner is an admirer and a student of Leonardo’s scientific work, his own career reflects the influence of technological advances on current scientific research.

Dr. Pevsner’s first book, “Bioinformatics and Functional Genomics,” represents a major contribution to the literature of a growing field. Few universities maintain departments devoted to bioinformatics – the study of biology using the tools of computer science – and few people receive specific training in the field. Texts like Dr. Pevsner’s acknowledge the contributions of bioinformatics to leading medical research, and the importance of training experts in the field.

Bioinformatics began nearly 40 years ago as computers assumed a more prominent place in scientists’ research processes. But recently, says Dr. Eric Jakobsson, director of the Center for Bioinformatics and Computational Biology at the National Institute of General Medical Sciences, “experiments have produced so much data about the components of living systems that it’s now impossible to make sense of that information without using advanced computer programs.”

The draft of the human genome, completed in 2001, contains some 30,000 genes. “We’re just beginning to understand what those genes do. Bioinformatics allows us to sift through that large amount of data and make sense of it,” says Dr. Pevsner. At his lab at Kennedy Krieger, the interface of biological exploration and computer technology is fueling advances into the causes and possible treatments for such disorders as Rett syndrome, Down syndrome and lead poisoning.

In the Pevsner Lab, computers haven’t replaced hands-on research, but they have made it possible for Dr. Pevsner and his colleagues to analyze project results more efficiently. “We’re still doing experiments at the bench where we don’t use any computers,” he says. “We grow cells, we purify proteins, we do biochemical studies. But when we interpret the meaning of our biological experiments, we rely on the computer.”

Pevsner Lab scientists have created two computer programs designed to make it easier for researchers to put the results of their experiments into a broader context. One, Database Referencing of Array Genes Online (DRAGON) trolls entries in other databases and compiles information about the biological characteristics associated with each gene that a researcher is exploring. The other, Standardization and Normalization of Microarray Data (SNOMAD), allows researchers to analyze closely related genes.

The programs are freely available and can be used by any scientist to determine which genes changed in an experiment. The Pevsner Lab team uses them to advance studies of brain disorders in children.

“Our goal is to understand how a molecular defect leads to a child’s disease,” says Dr. Pevsner. “We know that people with Down syndrome have an extra copy of chromosome 21, but we don’t know how that extra genetic material leads to intellectual disabilities. These databases can help us discover which genes are assigned to chromosome 21, which could help us find a damaged pathway we can try to repair.”

On March 4 at 7 p.m., Dr. Jonathan Pevsner will deliver a lecture, “Leonardo da Vinci and the Brain,” at Baltimore’s Walters Art Museum. Call 443-923-7300 for more information.


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