He Did It: Alumnus Jonathan Rothberg

CIT alumnus Jonathan Rothberg was featured in the latest issue of Carnegie Mellon Today. Rothberg was inspired by his son—by both his dramatic entry into the world and his present-day ideas—to create a machine that can sequence DNA more quickly and inexpensively than ever thought possible. The dream of the $1,000 genome has led to the creation of Ion Torrent, Rothberg's latest business venture, and the Personal Genome Machine the company manufactures. Excerpts of the story by Jennifer Bails are below.

Fourteen hours after entering the world, Noah Rothberg stops breathing. His skin turns blue, his blood unable to feed his cells and tissues with enough oxygen. In a terrifying instant, the hospital room swarms with medical personnel. The newborn is rushed from the protective cradle of his mother's arms to the neonatal intensive care unit. The NICU is dimly lit, with the drone of beeping monitors and wheezing respirators punctuated by the occasional infant's cry or alarm. Specialists stabilize Noah, placing him in an incubator to warm his tiny body. He is placed under oxygen. An IV delivers fluids and drugs. Chest wires track his vital signs.

In the nearby waiting room, Noah's father, Jonathan Rothberg, paces in shock. It has been a matter of only hours, but already it seems like a lifetime has passed since he and his wife, Bonnie, were celebrating their son's birth. Now they are confronting an all-too-familiar nightmare. Three years before, the couple's daughter, Jordana, was diagnosed at six months old with tuberous sclerosis complex, a rare genetic disorder that can cause benign tumors to form in the eyes, heart, kidney, skin, lungs, and brain. Symptoms range from mild to severe, but doctors warned that Jordana might never speak and could suffer from seizures and other life-threatening complications.

Still reeling from these possibilities, Rothberg tries not to fall apart in the face of Noah's crisis. He spends a sleepless night on the waiting room couch as doctors run tests to figure out what's wrong. What he finds most unbearable is the lack of answers. "Why can't I have complete information on Noah?" he wonders.

To Rothberg, a biotech entrepreneur, "complete information" means viewing Noah's genetic code to see whether he has an inherited disease. The twisted ladders of DNA that form each person's genome are comprised of three billion "letters," or chemical bases. Rothberg wants to read the "words," or genes, spelled out by Noah's unique sequence of these bases, which could reveal why his son is fighting to breathe. He thinks, "Why can't we sequence his genome so we know what to worry about and what not to worry about?" But he understands that's out of the question.

In 1980, British biochemist Frederick Sanger shared a Nobel Prize for developing a process to read the exact order of chemical bases in DNA. Scientists working on the Human Genome Project throughout the 1990s built factories of huge sequencing machines that used this method to collectively decode one human genome for the first time. It took longer than a decade and almost $3 billion to reach that milestone. As of July 1999, when Noah Rothberg is born, there's still no faster, cheaper way to crack the genetic code.

Rothberg learned how to sequence DNA while working in a lab his junior year at Carnegie Mellon, where he studied to be a chemical engineer like his father. He is the sixth of seven children raised in a family of technology-minded entrepreneurs in New Haven, Conn. He often went on sales calls as a boy with his dad, Henry Rothberg, who founded Laticrete International, which makes adhesives for stone and ceramic tile.

During his senior year at Carnegie Mellon, Rothberg heard Steve Jobs speak in Hunt Library after the launch of the Macintosh; he had been clipping articles for years about the Apple co-founder and still has a 1982 Time magazine cover about the late computing legend. Jobs told the audience the secret to his success was to "just do it," several years before Nike coined the phrase.

…

"DNA sequencing is going to affect everything," says Rothberg, predicting it will become a $100 billion industry. "This is biology's century, just as physics was the foundation of the last century."

In the hospital, waiting for news about Noah, Rothberg was unknowingly about to start that revolution. "Everybody does something different in those situations," he says. "For me, sketching and doing calculations were a way to take my mind off the fact my son wasn't breathing, so I wouldn't have a breakdown."

…

Rothberg imagines a future when a personal genome machine will be found in every doctor's office, where patients will have their genomes sequenced as routinely as they get x-rays. It may sound like science fiction, but industry expert Davies says the vision is not farfetched. "There is going to be a great market for a machine that can miniaturize and simplify DNA sequencing so almost any researcher or clinician has access to it," he says. "I think Jonathan has as good a shot as anyone of making that happen."

The media agrees. Forbes magazine showcased Rothberg and his "gene machine" on a recent cover. In addition, the university trustee is the first person to be recognized twice by The Wall Street Journal's Technology Innovation Awards, which named him as a 2011 runner-up for his work with Ion Torrent; 454 earned him a gold award in 2005. And, he is also the first person to be named as The World Economic Forum's Technology Pioneer three separate times for the companies he founded.

Life Technologies is certainly betting on Rothberg; the global biotech corporation acquired Ion Torrent two years ago in a blockbuster deal for $725 million, with Rothberg staying on as CEO. Today, just as he accompanied his father on the road, his own five children sometimes join him on business trips, including Jordana, who is a healthy, Facebook-loving teenager.

It was on one of those trips that Noah—who struggled so mightily for his first breaths—showed his "old man" that at the age of 11 he had learned a thing or two about success. Rothberg had taken him along when he met with Moore, Intel's chairman emeritus, presenting him with his personal genome sequenced by the Ion Torrent machine. Moore was impressed. "Afterwards," says Rothberg, "Noah told me the next time I start a company, he gets 50 percent."

Read the full story at Carnegie Mellon Today.