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How Sickle Cell Gene Mutation was Recently Traced to One Shared Ancestor

March 13, 2018 by Andrea


We've known for decades that sickle cell disease stems from a gene mutation that helped protect people from contracting malaria. And now, as of last Thursday (March 8), when this study was published in the American Journal of Human Genetics, we've learned that every single person who has ever lived with sickle cell disease or sickle cell trait is descended from one Saharan child born 7,300 years ago.

As the New York Times reports, this mutation was only advantageous -- that is, until that child's descendants began to settle in different parts of the African continent, and generations later, unknowingly, met and started families with other descendants of Child Zero, sometimes passing down two copies of the mutation, ultimately creating what we know as sickle cell disease. Sickle cell currently affects about 100,000 people in the U.S. and about 300,000 worldwide.

"Dr. Shriner and Dr. Rotini [leaders of this recent study] analyze the genomes of nearly 3,000 people to reconstruct the genetic history of the disease," the New York Times reports. The hope is that this new discovery will lead to better patient care and better overall understanding of sickle cell itself.

Read the original article in its entirety here.


(*Photo by Ed Uthman [CC BY 2.0] via Wikimedia Commons)

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