Read e-book online Blood Matters: From Inherited Illness to Designer Babies, PDF

By Masha Gessen

Masha Gessen came across through genetic trying out that she had the feared BRCA1 genetic mutation--the related mutation made recognized lately by means of Angelina Jolie, which predisposes ladies to ovarian and breast melanoma. As Gessen wrestled with a wrenching own decision—what to do with such knowledge—she explored the panorama of a courageous new international, conversing with others like her and with specialists together with scientific researchers, historians, and spiritual thinkers.

Blood issues is a much-needed box advisor to this strange and unsettling territory. It explores the way in which genetic details is shaping the selections we make, not just approximately our actual and emotional future health yet approximately whom we marry, the kids we undergo, even the character qualities we lengthy to have. And it is helping us come to phrases with the novel transformation that genetic info is engineering in our most simple feel of who we're and what we'd become.

 

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Extra info for Blood Matters: From Inherited Illness to Designer Babies, How the World and I Found Ourselves in the Future of the Gene

Sample text

The results of your tests have arrived. ” She paused. ” She paused. ” BRCA1 and BRCA2 are two genes known to play a role in the development of breast and ovarian cancer. The caller was a genetic counselor informing me that my mother had passed on to me a mutant gene. I was surprised. I was shocked. I should not have been. I had gone to get tested, I had known enough to know that I was a likely candidate for the mutation, but I was convinced that I was negative. Even if my mother had been a carrier—I could not know, because she died before the gene was discovered—I had only a 50 percent chance of having inherited it.

The remains of about a hundred babies had been found beneath a late–Roman Empire bathhouse. Because the babies were newborns, showed no sign of disease, and had been disposed of in what seemed to have been a gutter, and because historical records indicate that infanticide was practiced in that culture, they assumed the babies had been killed soon after birth. They collected their left femurs (this was done to avoid testing the same individual twice) and set out to extract their DNA to see if they had been boys or girls.

Symptoms appear between three and six months of age; the baby becomes developmentally delayed and may also go blind. The children die before the age of ten. Niemann-Pick is another enzyme deficiency that leads to the buildup of a fatty substance—in the brain, liver, spleen, and lymph nodes. Babies become blind and disfigured and usually die before the age of two. One in seventy-five Ashkenazim is a carrier. Gaucher’s is also an enzyme deficiency that leads to the buildup of another fatty substance, which can cause symptoms ranging from mild to severe, including anemia, fatigue, and bleeding.

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