One Scientist’s Quest to Bring DNA Sequencing to Every Sick Kid

Stephen Damiani is a numbers guy.

He can tell you that on May 26, 2010, he and his wife, Sally, listened as a doctor told them that there were no more tests to try to figure out what was wrong with their son. He can recall that at that point 306 days had passed since they’d first noticed he was sick and that Massimo was just shy of his first birthday when he started struggling to pull himself up to stand; his legs would stiffen, his toes would tightly curl, and he’d throw his head back in frustration.

Doctors knew Massimo suffered from a type of leukodystrophy, a genetic disorder of the central nervous system that destroys the brain’s white matter. The only option left would be to try to identify the specific gene responsible for his illness and hope that a diagnosis could eventually lead to a treatment—an endeavor that could take years. Although the human genome had been mapped almost a decade earlier, the practice of systematically scouring patients’ entire genetic code to find the culprit had yet to become routine.

But Massimo’s symptoms were getting worse. So Stephen did something unheard of at the time: He paid nearly $10,000 to ship a sample of Massimo’s blood from their home in Melbourne, Australia, to the US to have his DNA decoded. (He’d read a 2009 WIRED article reporting that Illumina, a relatively unknown San Diego manufacturer of DNA sequencing machines, would soon offer whole genome sequencing commercially.)

But that didn’t get him any closer to an answer. Unlike today, a time when genetic sequencing labs analyze and interpret your DNA to let you know how much Neanderthal ancestry you have or whether you are a carrier for cystic fibrosis, back then the field was so new that the company could only return a mass of raw data that had little meaning: More than 4 million variants across 20,000 genes.

Damiani enlisted an American nonprofit research institute to narrow down the number. But when they came back with a staggering 5,726 genes that might be the cause of Massimo’s disorder, Damiani was devastated. It was Day 560 with no diagnosis.

Because he’s a numbers guy (he’s worked as an entrepreneur and risk manager), Damiani thought all this genetic number-crunching was fundamentally a math problem—one he could figure out with the right algorithms. All he needed was to compare his and Sally’s genomes with Massimo’s readout and a baseline genome. And because he was also a desperate father whose son had by then stopped sitting up or talking, the idea that the information that could save him was buried in a jumble of DNA coding was unbearable.

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.

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