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Gene sequencing: tip of the iceberg

By Bill Snyder
January 2010

When the rough draft of the human genome was unveiled in 2001, many scientists were astonished to learn it contained only about 30,000 genes, just a third more than the number required to make the simple roundworm, C. elegans.

Since then, the estimate has been revised downward, to between 20,000 and 25,000 genes. Clearly the complex organism that is human must arise from more than just the genes, but likely reflects interactions among the genes, the multiple proteins they encode and the environment.

It would appear, then, that reading the gene sequence is just the beginning of the road to personalized medicine.

As important as the genetic revolution has been to our current understanding of human disease, equally important has been the informatics revolution, the development of computer-assisted technologies capable of analyzing the gargantuan amount of data coming out of the genome.

This is one reason Vanderbilt University Medical Center is positioned to be a leader in personalized medicine. Its Department of Biomedical Informatics, one of the first in the country, is also the largest, with 66 faculty members.

“It represents Vanderbilt’s commitment over more than two decades to the principle that what will differentiate us in the 21st century as an academic health center is our ability to effectively manage data, information and knowledge, and bring it to the point of decision-making,”said the department’s chairman, Dan Masys, M.D.

The commitment goes back even farther, added Dan Roden, M.D., assistant vice chancellor for Personalized Medicine and director of the Oates Institute of Experimental Therapeutics.
Back at least to 1963, when John Oates, M.D., established the Division of Clinical Pharmacology and galvanized a group of physicians and scientists to explore variability in drug responses and other clinical problems before they were “fashionable,” Roden said.

Vanderbilt’s leadership position reflects the willingness of the university to invest in new technologies, facilities and people, and the openness of its faculty to try new approaches. During the past two years alone, Vanderbilt scientists have (among many other things):

• Identified mutations that may contribute to one cause of sudden infant death syndrome (SIDS), to abnormal heart rhythms that can be lethal, and to age-related macular degeneration, a leading cause of blindness;

• Found genetic clues that may help crack the mysteries of autism and Alzheimer’s disease, and which may improve diagnosis and treatment of attention-deficit hyperactivity disorder; and

• Launched a new initiative to tailor better-targeted therapies for lung cancer and melanoma, based on the unique genetic portraits or “genotypes” obtained from patients’ tumors.

Another ingredient that distinguishes Vanderbilt is its “culture of caring,” said Jeff Balser, M.D., Ph.D., vice chancellor for Health Affairs and dean, School of Medicine.

“Personalized medicine isn’t just about DNA sequencing and knowing what drug to give people,” he said. It includes “looking at the entire context of the individual – their social situation, their age, their resources, and (tailoring) care specifically to that individual.

“Equally important is the compassionate, personal touch in our care for patients,” Balser continued. “It is all personalized medicine … and I believe we are creating the future of personalized medicine at Vanderbilt.”

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