Early Diagnosis of Genetic Diseases - KCBD NewsChannel 11 Lubbock

2/3/04

Early Diagnosis of Genetic Diseases

If parents know they are carriers of a genetic disease, does that mean they must get pregnant first, before they can find out if they've passed the disease on to the child? Not anymore.

Today, science is using a screening procedure called Pre-Implantation Genetic Diagnosis or PGD for short.

Anne and Larry Zimmerman were the first couple to undergo this testing a few years ago. Here's how it works.

Anne and Larry went through standard invitro fertilization. But before the embryos were transferred into Anne's womb, doctors at Weill Cornell extracted one of the embryonic cells and ran sophisticated genetic tests. The embryos that were normal were then transferred to the womb. The result: first Lizzie and later Luke.

"We can offer families the technology that is now out there to allow them to have their own children with their own genes, but without a potentially fatal gene that neither parent wants," explains Dr. David Abramson, opthalmologist.

And the parents couldn't be more pleased with the results.

"It's been just terrific, both these kids can have a tumor-free existence," said Larry Zimmerman.

You see, Larry knew he was a carrier for retinoblastoma, an eye cancer that shows up in children. But here's what's new.

Researchers at Cornell say they can now test for about 100 diseases through PGD, which not only prevents that disease in the child, but it can literally remove that genetic defect from the family line.

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