Prion disease gets personal | Science News

SUPPORT SCIENCE NEWS

Help us keep you informed.

Real Science. Real News.


The Science Life

Prion disease gets personal

Woman’s diagnosis turns her and her husband into scientists

By
7:00am, February 22, 2016
Eric Minikel and Sonia Vallabh

NEW SCIENTISTS  Married couple Eric Minikel (left) and Sonia Vallabh (right) switched careers to investigate a deadly brain disease that Vallabh inherited from her mother.

Sonia Vallabh knows what will probably kill her.

In 2011, the Boston-area law school graduate learned she carries the same genetic mutation that caused her mother’s death from a rare brain-wasting prion disease. Prions are twisted forms of normal brain proteins that clump together and destroy nerves. About 10 to 15 percent of prion diseases are caused by a mutation in the PRNP gene, leading to such deadly diseases as Creutzfeldt-Jakob disease, Gerstmann-Sträussler-Scheinker syndrome and fatal familial insomnia, the disease that killed Vallabh’s mother.

Grief, shared with family and friends, came first. Eventually, Vallabh realized, “We can’t get around this prognosis.… We’ve got to go through it.” So began her and husband Eric Minikel’s odyssey to learn about the disease that had turned their lives upside down.

A scientist

This article is only available to Science News subscribers. Already a subscriber? Log in now. Or subscribe today for full access.

Get Science News headlines by e-mail.

More from Science News

From the Nature Index Paid Content