“Everyone loves the big idea that will change the world. But what about the small idea that makes a difference?” (From 2019)
for her mother’s mutation. Her doctors, genetic counselors, and even some of her family members recommended against it. If a disease has no cure, their reasoning went, what’s the point in knowing? Isn’t ignorance bliss? But Sonia was adamant. “You really want to hope that you’re negative, but the fear that you’re positive keeps interrupting, and it’s a constant psychological dialog,” she says. “Once you know, you start to adapt.
The couple’s drastic career change worried their families. Did they really want to spend all their time thinking about her disease? Were they prepared to waste years of their lives on a quest that would almost certainly fail? Eric’s sister was a doctor and had done some bench work while getting her degree; she had found the experiments hopelessly fussy. “The person next to me could sneeze and change the results,” she warned them. But Sonia and Eric couldn’t be deterred.
Fatal familial insomnia got its name in 1986, when a group of Italian researchers published a paper about it in. They told the story of a patient from Venice who had delivered himself to a neuroscience lab at the University of Bologna just as he was about to die. The man’s family had suffered from the disease for more than two centuries, and he was showing all the symptoms they had learned to fear: muscle tremors, trouble walking, excessive sweating, ever-worsening insomnia and dementia.
That December, with MacArthur’s support, the couple gave a presentation at the Broad, laying out their ambitions. They hoped to develop a drug that would target the misfolded PrP protein, stymieing plaques before they could form. Through a nonprofit they had founded in 2012, the, they had already raised about $17,000, mostly in small donations. They would use the money to fund tests of a promising compound that had been shown to clear prions in mouse cell cultures.
Through mutual friends, the couple had met a scientist named Jeff Carroll, who, like Vallabh, researches his own disorder—in his case, Huntington’s disease. He had recently partnered with a company called Ionis Pharmaceuticals to develop a therapy. Both fatal familial insomnia and Huntington’s result from a mutant protein that is toxic to brain cells. So how do you eliminate the protein? The simplest answer, Carroll explained, was to cut out the middleman.
In October of 2016, buoyed by hope, Vallabh began drafting a white paper to bring before the FDA. It was around this time that she became pregnant.had always intended to start a family, but only after they were sure her condition wouldn’t be passed down. Anything else seemed like a reckless coin flip.
As soon as the couple began their presentation, Lander says, there was a sense of “pushing on an open door”—quite a surprise, given the agency’s stodgy reputation. “People still flat-out don’t believe the FDA was cool with it,” Minikel says. Afterward, one of the 25 scientists in the audience pulled Lander aside and said, “That was one of the best presentations I’ve ever seen.” Schreiber agreed. He alluded to a pharmaceutical company he’d helped set up early in his career. “to show for it.
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