The Washington Post: A new, more diverse human genome offers hope for rare genetic diseases

wapo celia

By Mark Johnson

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.

But hope for Celia and millions of other people with hereditary diseases rose on Wednesday with the announcement of a second scientific landmark: a new, more detailed version of our genetic code that finally begins to account for human diversity — a factor of critical importance to medicine.

Read the full story via The Washington Post

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