So Damiani downloaded some research papers, found some presentations from genetics conferences on YouTube, bought a new computer and the book Bioinformatics for Dummies, and started asking around for advice.

Erica Sontheimer, an American magazine editor living in Australia, learned about the Damianis' story one afternoon while having tea with one of her writers who is also a family physician. As it happened, the writer—Leah Kaminsky—was Massimo's doctor, and she told Sontheimer about the boy's mysterious case. Massimo's father, she explained, was on a mission to find the genetic mutation that was making his son sick. You wouldn't happen to know any bioinformatics gurus, would you? she asked.

In fact, Sontheimer's husband, a postdoc named Ryan Taft, happened to be a bioscientist. “Maybe you could talk to him,” Sontheimer suggested when she told Taft about the boy. (Damiani would later call the introduction “one in a billion.”)

Sontheimer and Taft had been living in Brisbane, Australia, so Taft could finish his PhD in genomics and computational biology at the University of Queensland, with a focus on so-called junk DNA. Taft, 33, had never seen an individual human genome before, but he agreed to give Damiani some pointers on how to manage large amounts of scientific information.

The phone call had barely begun when Damiani launched right in. “I’m looking for someone who can read genomes,” he said.

Stephen Damiami and his wife, Sally, went to extraordinary lengths to search for answers about their son's illness. Sinead Kennedy Sinead Kennedy

Taft ticked through a list of questions he thought might be helpful: What programming skills do you have? How much RAM does your computer have? How are you thinking of doing the variant calling? What question are you trying to answer? As they talked it through, Taft feared that Damiani didn’t fully understand the challenge he was up against.

Within a half hour, Damiani asked him outright if he would consider working on the problem himself. “When can I send you the data?” Damiani asked.

Taft took a long pause. Using sequencing to figure out why Massimo’s genetic instructions were making him sick was uncharted territory. Never mind that he had little free time to take on such a project. After spending the previous decade pushing forward the idea that the noncoding regions of the genome—regulatory RNA molecules that exist outside of genes—had an important function in human biology, Taft had just started his own lab, was on a publishing streak, and would soon be supervising nearly a dozen scientists. (After briefly working in a San Francisco lab after college, Taft, a San Diego native, had found a champion in one of the world’s experts, John Mattick, at the University of Queensland.)

But Taft couldn’t bring himself to say no, either. Like anyone would be, he was moved by the father’s plea. Taft and his wife were planning to start a family soon, and he imagined what he would do if he were in the same situation. He was also deeply honored by the request. This was the first time he’d ever been asked to do something that could so directly impact someone’s life. Besides, he couldn’t think of anyone else to refer Damiani to.

Taft gave Damiani his office address and told him to send his hard drive.

Today genetic data is sorted and compared to tens of thousands of genomes available in public repositories. But in 2011 it would take Taft an entire month just to figure out how to organize and access Massimo’s 3 billion base pairs.

He started with the output from the sequencing machine, which had chopped up the letters into bits that were about 500 letters long. Those were then stitched back together by a software algorithm, leaving about 4 million positions to look for differences between Massimo’s genome and a reference genome, which is made up of population averages. Then came the task of applying sets of algorithms to look for a meaningful signal amid the noise. Even with more triaging, Taft could only narrow down the list to more than 10,000 variants that were possibly linked to Massimo’s disease. It was a lot of hunting and pecking.