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June 2010


The Joy is in the Journey

A researcher looks inside a test tube to find his career

By Allyson T. Collins, M.S.
NEI Science Writer/Editor

Anand Swaroop, Ph.D.
Anand Swaroop, Ph.D.
Chief, NEI Neurobiology-Neurodegeneration and Repair Lab
(Photo first published in Ann Arbor News on Dec 6, 2006)

Anand Swaroop wanted to be a doctor while he was growing up in India, but in college he experienced what he calls a "life-changing event." He witnessed the aftermath of a train accident while riding his bike home from class. The emotions of the injured people caught him by surprise.

"I decided that blood was not my cup of tea," he remembers.

More than 30 years later, Swaroop is a geneticist and chief of the Neurobiology-Neurodegeneration and Repair Laboratory at the National Eye Institute (NEI). Ironically, the scientific discoveries of his career could not have been accomplished without one crucial element--blood.

"I met Mr. X whose DNA I had, and he told me how grateful he was," Swaroop says. "And I was grateful to him for giving me his DNA. That's when I realized that [my research] was no longer about publishing a paper, no longer about cloning a gene. It became personal."

The Making of a Scientist

Swaroop pursued his graduate studies in biochemistry at the Indian Institute of Science in Bangalore. There, he learned that his true passion was molecular biology.

"I wanted to clone genes," he says. "I realized that the mysteries of life are in genes. They are responsible for disease. They are responsible for how a human being originates from a tiny cell."

It was late 1977, and Swaroop was a 20-year-old enrolled in a Ph.D. program. Decades before online journals existed, he and his friends would race to the library for the latest issues of Cell, Nature, and Science to read about the most recent genes that scientists had cloned.

"I was in love with DNA, in love with genes," Swaroop recalls, but he had little classroom or laboratory experience in the field. He finished his Ph.D. in 1982, and had difficulty finding a laboratory for his postdoctoral research. Finally, a colleague of his advisor's offered him a position at Yale University.

"I left a country where there were no shopping malls and no social security, with about $23 in my pocket," he says.

Swaroop arrived at Yale with the mission of cloning a gene that encodes a hormone receptor in the fruit fly. He didn't clone that gene, but he cloned a gene for a cellular motor that is critical in fruit flies as well as mammals. His colorblindness then forced him to look for another species to study because he couldn't distinguish different types of fruit flies by their eye colors.

Humans were the natural choice, he says, because he wanted to clone disease genes.

He moved to Yale's Department of Human Genetics, where researchers were attempting to clone a gene responsible for Duchenne muscular dystrophy (DMD), a condition that leads to rapid breakdown of muscles, eventually resulting in loss of movement and death. They were studying DNA from a man who had DMD and X-linked retinitis pigmentosa (RP), a blinding inherited eye disease.

Researchers began by using DNA from patients with DMD to find the chromosomal region where genes were missing, or deleted, because the gene for the condition would most likely be in that area. By the time Swaroop became actively involved in the research, however, another group had already discovered the DMD gene.

"I was devastated," he says, but decided to move to another Yale laboratory to work on finding the gene for X-linked RP. He wrote his first grant proposal to the National Institutes of Health to obtain funding for the project. Not only was it accepted, but the grant received the highest score from reviewers.

"That was when I became an eye geneticist," he says, smiling.

Rod Photoreceptoe
This image shows a rod photoreceptor. Rods are responsible for night and peripheral vision. (Courtesy of Jerome Roger, Ph.D., NEI Neurobiology-Neurodegeneration and Repair Lab)

Coming Full Circle

As a new member of the vision research community, Swaroop attended a scientific meeting in 1988 where he met Paul A. Sieving, M.D., Ph.D., then professor of ophthalmic genetics at the University of Michigan, Ann Arbor, and now NEI director.

Swaroop wrote to Sieving the following year when he was looking to start his own research lab. The two became colleagues when Swaroop accepted a position as assistant professor in the Departments of Ophthalmology and Human Genetics in Michigan.

Quickly, they began to complement each other's work. Sieving referred families with genetic eye diseases to Swaroop so he could study their DNA. Through Sieving, a clinician-researcher, Swaroop saw beyond the test tube.

"Paul was the person from whom I learned about the families and diseases," Swaroop says. "I learned about retinitis pigmentosa, and before I had no clue what the disease meant."

Sieving invited him to his annual meetings with patients, where he explained: "Behind every tube of DNA, there is a face."

"I can't forget that," Swaroop says. "I met Mr. X whose DNA I had, and he told me how grateful he was. And I was grateful to him for giving me his DNA. That's when I realized that it was no longer about publishing a paper, no longer about cloning a gene. It became personal."

Swaroop sees this moment as the time his career came full circle, from 1974 to 1993. Though he was too emotional to become a doctor, he was still making an impact on human lives.

"Sure, I want to be famous someday," he says. "But that's not as important as someday being able to do something for these people who have given their blood--literally--to me."

Moving Toward Treatments

In the 1990s, many researchers focused on cloning disease genes, so Swaroop instead veered toward his biology roots. He began studying the eye's retina tissue, specifically its light-sensitive photoreceptor cells, where he discovered a gene called NRL.

He and his team later showed that mutations in NRL were involved in retinal diseases, such as RP. The biggest discovery, however, was that NRL is crucial for the development of rod photoreceptors, which are responsible for night and peripheral vision.

"This gene turned out to be the master control gene I was hoping to find," Swaroop says.

In terms of photoreceptors, humans have about 95 percent rods, but the 5 percent of cones may play a more significant role--they help people see color and fine detail. Even so, rods are the first to die in many retinal diseases, Swaroop explains.

"If we understand how to keep rods alive and how they function, I think we may be able to treat retinal diseases," he says. "This has become the theme of my research over the past 10 years."

In the mid-2000s, Swaroop realized that he spent too much time writing grants and scientific papers, instead of developing cutting-edge projects.

Anand Swaroop, Ph.D. in his office

"I was too busy to think," he says. He received an offer from NEI, where Sieving had become the director, to start a government-funded lab that would let him focus on the science.

Today, he sits in his NEI office describing his laboratory. He and his team investigate how stem cells develop into nerve cells in the retina, how these neurons connect to each other, and how they become dysfunctional or die in eye diseases. But, more than that, he wants to find treatments to repair the retinas of people who give their blood to support his research knowledge.

As he describes his work, Swaroop looks toward a plaque on his windowsill that reads, "The joy is in the journey," in both Braille and English.

"Before I retire, I want to solve some big problems," he says. "I want to answer some fundamental questions in retinal biology and participate in therapies for retinal diseases."

Though it's already early evening, he moves to his desk to continue his work.

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