Ellen Jorgensen, at the work in the Genspace laboratory

Hugh Rienhoff climbs the stairs into his attic and ascends into a universe of genes, a space dominated by printouts and digital displays of his daughter’s DNA. It is a ritual he has followed regularly for the past five years, retreating here or to a makeshift basement lab in his San Francisco–area home, on the hunt for an error hidden somewhere within Beatrice Rienhoff’s genetic code. A mutation for which there are no data anywhere in medicine has depleted her muscle mass and weakened her joints. As an infant, Beatrice could not hold up her head at a time when most other babies her age were long past that milestone. Today, at age 7, she is heartbreakingly thin and wears braces in her shoes to support her fragile ankles. Finding the cause could point the way to a meaningful treatment.

Even though Rienhoff is the founder of two biotechnology companies and holds a medical degree from Johns Hopkins University, he has conducted his hunt not as an expert in human genomics but as a do-it-yourself biologist, teaching himself the tricks of the trade as he moves along and doing his research at home. As a gene tracker, he has collected data on more than a billion DNA sequences in a lonely search that has taken him down dozens of blind alleys. Yet despite occasional doubts, he knows he is moving in the right direction. In fact, Rienhoff suspected his daughter’s condition was caused by a genetic glitch the moment he laid eyes on her. The problem was that neither he nor any of his colleagues knew which gene, or genes, was to blame.

To find out, Rienhoff and his wife, Lisa Hane, first sought out an army of geneticists from coast to coast. “When my daughter was born, we went through the usual diagnostic circles, and arriving at nothing concrete, we went through a more extensive process, going outside the San Francisco Bay Area, going to Hopkins where I trained. And I said to them, ‘Why don’t you take a crack at this?’ ” Doctors offered many possibilities, but their theories inevitably led to dead ends. And since a medical condition with an apparent patient population of one could hardly garner federal funding, Rienhoff recast himself as a citizen scientist, a do-it-yourselfer who now finally has a candidate gene in hand.


Rienhoff retreated to his solitary attic to help his daughter, but he is not alone in his approach. A growing cadre of do-it-yourself (DIY) biologists have taken to closets, kitchens, basements, and other offbeat lab spaces to tinker with genomes, create synthetic life-forms, or—like Rienhoff—seek out elusive cures. Robert Sabin has been an independent researcher for more than 30 years, focusing on nutrition and disease; he works in the library, in his bedroom, or out by the pool of his Long Island house. In Cambridge, Massachusetts, MIT grad Kay Aull reprogrammed the genome of E. coli bacteria, a type of life-based engineering known as synthetic biology. That work gained Aull a lot of attention from fellow DIY-ers, including movement leader Mackenzie Cowell, who called her feat “a cool hack.”

DIYbio, as its practitioners call it, has some of the trappings of computer hacker culture, including a rapidly growing global community. Facilities erected specifically for biology hobbyists have sprung up around the United States. And an online network, DIYbio.org—started by two Cambridge, Massachusetts, enthusiasts, including Cowell—facilitates communication among citizen scientists worldwide. Cathal Garvey, a garage biotech enthusiast in Cork, Ireland, and an expert on the DIYbio movement, predicts that the new breed of homegrown experimenters will relaunch the kind of creative, idiosyncratic innovation that is often missing from today’s big science. DIYbio is not a counterculture, he claims. “The separation of science from society is a fad that is coming to an end.”

Through most of scientific history, biological research has been done by individuals exploring the world around them. Early farmers were DIY bioscientists who bred crops and domesticated animals to improve agriculture. Early doctors were tribal leaders trying to heal injuries, fight infection, and mitigate the assaults of the natural world. Even modern genetics started with a hobbyist: Gregor Mendel, the 19th-century Austrian monk who performed groundbreaking studies of crossbreeding in his spare time while tending the grounds of his monastery. Mendel, who theorized that unseen units were transmitting traits from one generation to the next, based his conclusion on a mind-numbing series of experiments involving more than 30,000 pea plants. Yet his enormous contributions went unrecognized for more than a decade after his death in 1884.

More recently, huge corporations and vast university centers supported by government grants have been the engines of bioscience, but that has not stopped hobbyists from trucking on. One DIYbio pioneer was the Russian-American novelist Vladimir Nabokov, the renowned author of Lolita. He spent his leisure time studying butterflies and writing poignant scientific papers on his results. Nabokov served briefly as a curator of butterflies at Harvard’s Museum of Comparative Zoology, but he worked largely at home, where as a self-taught lepidopterist he mounted specimens, planned expeditions, and wrote about butterfly evolution and migration. In 1945 he advanced a hypothesis that Polyommatus blues—strikingly beautiful azure butterflies—arrived in the New World across the Bering Strait. Mid-century entomologists dismissed his ideas, but Nabokov, who died in 1977, was vindicated by researchers from Harvard just this year.

Then there was the case of Lorenzo’s Oil, the medicine concocted by Augusto Odone, an economist, and his wife, Michaela, in their Virginia kitchen in 1987 in hopes of saving their son, Lorenzo, who suffered from a degenerative genetic disease. They taught themselves advanced biochemistry and contracted with a lab to synthesize their medication. Working under the deadline of a fatal illness, the Odones created a novel treatment for adrenoleukodystrophy, which disrupts fat metabolism, primarily in boys. Lorenzo, who was not expected to live past the age of 8, died a day after his 30th birthday, in 2008.

Yet it is only now, at a time when bioscience and the university-industrial complex have all but merged, that the DIY movement has really taken off. With increased access to information and off-the-shelf supplies, the practice of bioscience is becoming available to a burgeoning community that includes gene hunters, curious tinkerers, and independent bioengineers eager to try their hand at creating synthetic life.

Robert Sabin is one of the movement’s pioneers. He forged a path as a citizen scientist in 1980, when he was 33 years old, after making a fortune melting and refining metals. Family members considered his unexpected passion for homegrown biology frivolous and quixotic, but after watching a once-robust refinery employee slowly waste away and die of stomach cancer, Sabin felt compelled to use his money to cure disease. His obsession emerged at a time rife with discovery, including such advances as drugs derived from recombinant DNA and monoclonal antibodies, molecules synthesized in the lab to recognize invasive pathogens or even cancer cells, aiding targeted drug delivery and diagnostic tests. A dropout from three colleges, Sabin hoped to make his own contributions to biology despite having no formal training and no connections—trivial matters, he says, compared with his commitment and desire to learn.

Sabin describes his journey while sitting in his home, nestled amid 200-year-old oaks and elms on Long Island’s North Shore. Not just another high-priced piece of real estate, this is a genuine institute of learning, tailored to a student body of one. “You don’t need a Ph.D. to be a scientist,” he says emphatically. “You need passion. When a scientist gets an idea in his head, he won’t stop until it’s tested. Scientists are possessed by their ideas and what they want to do. I am like that.”

His biological obsession zeroed in on phytic acid, the principal form in which phosphorus is stored in whole grains. Usually it is removed in processing. But “when nature creates something, it’s there for a reason; there’s nothing wasted,” Sabin says. Most scientists back then argued that phytic acid was useless, but he wondered whether its lack might be at the root of some disease.