Researcher Gets Mini Nobel

February 14, 2002

Heather Heilman
Phone: 865-5714

Don't be surprised if Leena Ala-Kokko is the next researcher associated with Tulane to receive the Nobel Prize. This fall, she was awarded the Anders Jahre Prize for medical research done by younger researchers from one of the five Scandinavian countries. So many winners of the Anders Jahre Prize later have gone on to win the Nobel that it is sometimes referred to as the "mini-Nobel Prize."

Ala-Kokko didn't expect to win the prize. She didn't even know she was nominated. Now a professor of medicine at Tulane's Center for Gene Therapy, she's a native of Oulu, Finland, and received her MD and PhD degrees from the University of Oulu. She came to the United States in 1987 to do postdoctoral work with Darwin Prockop at Thomas Jefferson University in Philadelphia.

She stayed on to become a faculty member at Thomas Jefferson, and later MCP Hahnemann University in Philadelphia. When Prockop came to Tulane to found the Center for Gene Therapy, Ala-Kokko came with him. She studies the genetic mutations involved in collagen-related diseases.

"Most of our body is made up of connective tissue. That's what holds us together. And connective tissue is mainly made up of collagen," she said. In particular she focuses on the cartilage collagens found in joints, the lumbar disks, and the eye and ear. These collagens play a role in a wide range of diseases, from osteoarthritis to glaucoma. Recently, she identified some genetic risk factors involved in lumbar disk disease, a common disorder that affects about 5 percent of the population.

"That finding was revolutionary because until now everybody believed you got disk disease just because you had bad luck or you did something wrong," she said. "But genetic factors can cause your disks to be weak, so that minor trauma can cause serious problems."

She spends at least two months each year in Finland and retains a place on the faculty of the University of Oulu. Her ongoing study of lumbar disk disease uses a Finnish population of several extended families.

"Finland is a good country for genetic research because it's genetically isolated, so it's easier to find the genes that cause common diseases," she said. The study began about seven years ago and will go on indefinitely. "It's a lifelong effort, because when you find one thing, ten new questions arise. I can't see the end of it."

She and her collaborators are using the same approach to study osteoarthritis, an even more common disease but one that's trickier to study because of environmental factors and the large number of genes involved. In general, the more common a disease is, the more genetic factors will be involved in causing it. At the opposite end of the spectrum from osteoarthritis is Marfan syndrome, a relatively rare inherited disorder of the connective tissue that is caused by a single genetic mutation.

People with the disorder are susceptible to aortic rupture. They also tend to be very tall, though no one knows why. Children of those with Marfan syndrome have a 50 percent chance of inheriting it. Often, people with the disorder have no symptoms, and until now it was almost impossible to determine who had it. But Ala-Kokko has developed a diagnostic test that can identify those affected.

"If you don't have the gene, good, you don't have to worry about it," she said "If you do, you can be treated. We can't correct the gene defect yet, but that's what we're working toward."

She has also started preliminary work with a genetically isolated population that's closer to New Orleans--the Acadians of south Louisiana, who seem to have a genetic susceptibility to glaucoma. In all her work, there are two basic goals. The first goal is to identify those who are genetically susceptible to different diseases. And the other is to eventually use gene therapy to correct the problem.

Ala-Kokko relies on the close collaborative effort of clinicians in Finland and the other places where her subjects live. There are challenges involved in overseeing research from across an ocean and an eight-hour time difference. But the bulk of the laboratory work is done in her lab in the J. Bennett Johnston Health and Environmental Research Building after DNA is extracted from blood samples taken from her subjects. In general, everything works fine. "I'm very happy with this arrangement," she said.

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