Five years ago, Sonia Vallabh graduated from Harvard Law School and went to work at a small consulting company. But a stunning medical diagnosis made her change course completely: she learned she has a genetic mutation that causes a deadly brain disease. Today she and her husband work in a lab at the Broad Institute of MIT and Harvard and have published research showing a possible pathway to a treatment. As she told the tale at an event on precision medicine with President Obama in February:

“At the heart of my story is a single typo in my genome.

“We all carry around thousands of typos in our DNA, most of which don’t matter much to our health—but my typo is an unusually clear-cut case. It’s a single change in a particular gene that causes fatal genetic prion disease, where patients can live 50 healthy years but then suddenly fall into deep dementia and die within a year. And there’s no treatment—at least, not yet.

“In 2010, I watched this disease unfold firsthand. I had just married my husband, Eric Minikel. My mom, healthy at 51, had single-handedly organized our beautiful wedding. Then, all of a sudden, we were watching her waste away before our eyes. We had no name for what we were seeing. It was only from her autopsy that we learned there was a 50 percent chance I’d inherited the genetic mutation that killed her.

“We decided right away I’d get tested. We wanted to know what we were up against. After months in agonizing limbo, a geneticist confirmed our greatest fear: The same change that was found in your mother was found in you.

“Knowing the hard truth has given us a head start against our formidable medical enemy. We waged a campaign to educate ourselves—taking night classes, attending conferences, and eventually taking new jobs in research labs. We retrained as scientists by day and applied what we were learning to understanding my disease by night. Four years later, we’re devoting our lives to developing therapeutics for my disease.

“We know the road ahead is uncertain—no amount of hard work can guarantee there will be a treatment for me when I need one. We are going to do everything we can, hand in hand with creative allies from every sector, to build this bridge as we walk across it and develop a treatment that could save my life, and the lives of many others.” 

—Antonio Regalado