The Washington PostThe Washington Post

A new, more diverse human genome offers hope for rare genetic diseases

By Mark Johnson

10 May 2023 · 9 min read

Editor's Note

The pangenome, a new genetic map that includes diversity from around the world, is a medical revolution, the Post reports. It will deliver explanations for illness however, it won't find solutions.

The landmark deciphering of the human genome more than two decades ago allowed doctors to solve thousands of medicine's cruelest mysteries, including the reason 10-year-old Celia Steele has never walked or talked, and now needs tubes to deliver oxygen and food. Deep in the genetic blueprint of the Wichita girl, doctors discovered the cause: two mutations in PDE2A, one of the 20,000 genes in the body. Just four people in the world share her condition.

The answer mattered deeply, but it came with disappointment. Doctors have yet to find a treatment. As powerful and transformative as the sequencing of the human genome has been, the medical revolution it kick-started still falls short, often delivering explanations for illness but no solution.

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