Living With The Reality Of Gene Mutations

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(Nogas1974 via Wikimedia Commons)
(Nogas1974 via Wikimedia Commons)

With all of the buzz around the recent breakthrough in gene editing research in the U.S., big questions have swirled about the far-out possibilities of 'designer babies' or genetic enhancements for intellect and athleticism.

But for those living with diseases caused by genetic mutations, the prospect of modifying a human embryo to correct anomalies is a matter of life and death — not of brown eyes or blue.

Leslie, in Marlborough, Massachusetts, called in to our show today on gene editing to tell us the story of her family's dire struggle with genetic mutations.

"My heart is jumping out of my throat because I'm married to a man who has [hypertrophic cardiomyopathy]," she said.

Hypertrophic cardiomyopathy (HCM), a heart condition that can cause sudden cardiac death, was the focus on the blockbuster gene editing study that made headlines last week. The research showed that scientists were able to, for the first time, successfully modify the genetic code to prevent the inheritance of the HCM mutation.

Leslie told us that many of her husband's family members have HCM — siblings, cousins and uncles included. So when Leslie had children, she feared they would inherit the gene mutation, too.

"We've lived for 20-plus years, every day worrying about our children because the disease doesn't manifest itself until kids are older," she said. "Every day of worry with this cloud, will my child die of sudden cardiac death? We don't know, they're not diagnosed, will they be diagnosed?"

Dr. Paula Amato, a co-author of the study showing successful editing of genes in human embryos, who joined us on air today, said her discovery could help families like Leslie's.

"Theoretically this could eliminate that gene mutation in her family," she said. "Not only are you preventing the disease in that child, but you're preventing it in that child's future children as well, in all future generations."

Thankfully, neither of Leslie's children inherited the disease from her husband. But the news of successful gene editing still has her feeling ecstatic.

"To hear about this, to me, is just like a miracle," she said.



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