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Spring 1999

Gene Hunter
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Peltonen's discovery of the gene led to the development of a prenatal screening test for NCL, and parents who may beat high risk can now receive genetic counseling. To Peltonen, this ability to provide families with knowledge of predisposition to a specific disease is at the heart of her approach to human genetics.

"I think human beings are built so they want to know why their child is sick," says Peltonen, the mother of two. "If there is not a proper reason, they feel alarmed. Why did this happen? Was it one beer too much during pregnancy? Or did I do something wrong? Mothers have a tendency to think, 'It was me, it was my fault.' They're used to carrying the blame. That's a concept that has been missed when this genetic information has been criticized."

Even if her discoveries do not ultimately lead to a cure, Peltonen views her research in a broader context. The knowledge of how a single gene malfunctions in a bizarre disease like NCL, for example, can spark tremendous insights into what happens in more common diseases like Alzheimer's. That is the hope and promise of genetics.

"We still don't know why the brain cells specifically die," says Peltonen, speaking of NCL. "Why don't all the other cells die, too? The molecular defects are still under investigation, and we need multiple experimental systems. The possibility of being so close to the Brain Mapping Institute and other groups who are studying neurobiology was one of the temptations that enticed me to UCLA. This is how we are going to find our answers."

On a cold Friday in late January, Peltonen is breezing through back-to-back meetings in her office. One is with a development officer to plan a March luncheon for the high-powered group Women and Philanthropy, featuring a topic loosely called "Genetics and the Human Spirit." Peltonen has agreed to be the keynote speaker, but in typical fashion she hasn't stopped there. She has offered to corral other UCLA researchers to speak, made suggestions about the guest list and even raised the possibility of starting a fund-raising group called "Friends of Genetics." About the only duty she hasn't volunteered for is arranging the flowers for the centerpieces.

At the moment, Peltonen is preoccupied with one of her doctoral students, Niklas Jarvinen, who arrived from Finland just three days before. Jarvinen - very Finnish with his blue eyes, blond hair and pale skin - has dropped by to discuss his progress in locating a certain gene. The gene is implicated in another dreadful children's disease, one going back 40 generations in Finland, that affects the motor neurons responsible for movement. The disease typically becomes apparent during the second trimester of pregnancy, when women realize the fetus isn't moving. Using the DNA of five Finnish families and their fetuses, Jarvinen has thus far mapped the gene to a region of Chromosome 9. But the student still has a long ways to go to determine its precise spot.

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