When science is personal

Today's Philadelphia Enquirer features news of Nancy Wexler, a woman I've admired ever since I saw her story on public television. She is one of nine people being honored this week by the Franklin Institute for achievement in science in technology.

As you would expect from a writer for the Enquirer, Tom Avril starts the story dramatically:

It might seem hard to convince a roomful of strangers to let you gouge a few skin cells from their arms for genetic testing, especially when you are a foreigner in a poor Venezuelan community ravaged by disease, and you speak very bad Spanish.

So, Nancy Wexler played her ace card. She held out her arm. A bilingual nurse then guided the American scientist through the crowd.

¡Mira! the nurse said, again and again. Ella tiene la marca. "Look! She has the mark."

Wexler had undergone the same skin biopsy that she was asking of the skeptical villagers. The reason, they were astonished to learn, was that she, like them, was at risk for Huntington's disease - a killer that slowly lays waste to the brain, causing its victims to speak as if they are drunk, to jerk uncontrollably, and, finally, to die.

The story links to the headline:

Yet, none has so personal a connection with his research as Wexler. Her mother, a grandfather and three uncles all were stricken with the genetic disease that would become her life's work.

More than a quarter-century has passed since Wexler and her colleagues started to collect skin and blood samples in northwestern Venezuela, part of a research trail that also winds through Philadelphia.

Now 61, she is past the age when most Huntington's sufferers start to display symptoms, so she may be in the clear - and is thus able to continue the quest for a cure.

and then describes how the Huntington "gene" was identified. Today, we know that the mutation that represents Huntingtons is a repeat of a series of bases in DNA. The mutation behaves as a dominant gene--it is expressed whether or not a copy of the mutation is present on the chromosome from the other parent. The number of repeats determines how severe the neurological condition will be. The condition is fatal.

Genetic testing is now available for the disease. The test is considered so reliable that, in England, people cannot purchase private critical-care health insurance if they have had a positive genetic test for Huntingtons. I don't know what US health insurers do.

The new story concludes with an excellent discussion on the effects of knowing--or not knowing--what your future is. Because Nancy's mother carried the gene, she has a 50 percent chance of developing the disease. She has maintained her right to privacy and will not discuss whether she knows she has the gene or not. She was tested, but may have chosen to not see the results.

I greatly admire Nancy as a person and as a scientist. May she long contiue her worthwhile work.

Read the story for yourself at http://www.philly.com/philly/health_and_science/20070423_When_science_is_personal.html

Marie Godfrey, PhD







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