There’s no need for state-of-the-art research facilities that cost upwards of a half billion dollars when an innovative scientist can set up a personal lab in the living room, the kitchen or on the porch.
This is exactly what Dr. Hugh Rienhoff, a graduate of Johns Hopkins Medical School and a founder of two biotechnology companies, is doing. The walls of his library, bedroom, and attic are lined with shelves of research journals and printouts of genomic codes. Even the basement is transformed into a fully functional research space with vials, flasks, and other laboratory paraphernalia. Several years ago, he left his clinical practice, and he now focuses on collecting and testing multitudes of DNA samples at home. It has become his personal mission to discover the mysterious basis of his seven-year-old daughter Beatrice’s crippling congenital disorder.
Beatrice is an adorable, blonde-headed girl who loves to wear brightly-patterned clothes. The youngest of the Rienhoffs’ three children, she hobbles around the living room, leaning on her metal braces to help her walk and to support her fragile ankles. In the weeks following Beatrice’s birth, Hugh Rienhoff, to his alarm, could already see that his infant daughter was not following a normal progression of joint or bone growth. Beatrice stayed underweight and strained to keep her head upright when she sat.
At first, physicians suggested Marfan’s or Beal’s syndromes as explanations for Beatrice’s twisted joints and warped bones. Marfan’s and Beal’s are both classically dominant genetic disorders that require only one dose of the pathological allele to affect an individual. These syndromes are commonly characterized by elongated limbs and abnormal facial features, but Beatrice has distinct symptoms. She does not exhibit the blood vessel defects that fit the complete profile for these diseases. As the family shuttled Beatrice from doctor to doctor only to receive a series of inconclusive diagnoses, Rienhoff quickly became a frustrated father and began to delve deeper. After consulting with physicians who suggested conditions even rarer than Marfan’s syndrome—such as mitochondrial disorders and Loeys-Dietz syndrome, which affects structural proteins in the body and could be identified by a forked uvula in the back of the mouth— he suspected that Beatrice’s ailment was related to her inability to build new muscle. With this hypothesis in mind, he began to scour dozens of research journals and to take genetic samples from himself, his wife, and his daughter. Drawing his own blood and running the tissue sample through his lab’s machines, Rienhoff analyzed his genome through comparisons to human genetic references on Genbank for possible aberrations to explain Beatrice’s illness.
Information and data from Rienhoff’s studies can be found on the website mydaughtersdna.org, where he also maintains a global forum on genetic conditions and the ensuing efforts scientists have made to crack the code and uncover explanations within the human genome. On the website, anyone can post queries about, and even share personal experiences, with rare congenital syndromes. Rienhoff uses his site to connect patientsand parent advocates like him around the world and to promote understanding and support.
Hugh Reinhoff isn’t the only one conducting novel research outside a sterile, steel-lined lab. Ever since the days of Gregor Mendel and his pea plants, scientific knowledge has advanced in large part from work done by “DIY-biologists”—experts and amateurs independently exploring and expanding the frontiers of research. Lately, the so-called “biohacking” movement—described as such to distinguish it from institutionally-supported bioengineering research—has grown quickly across the globe. Biohackers are able to find and purchase a variety of equipment and parts available on Amazon and eBay and to construct functional research tools—such as polymerase chain reaction (PCR) machines for gene amplification—for as little as 100 dollars from their homes. In fact, Kay Aull, who graduated with a biological engineering degree from MIT, converted an empty closet in her apartment into her personal E. coli laboratory for approximately 500 dollars. While a manufactured PCR machine costs at least 2,000 to 8,000 dollars for one unit,“biohackers” can furnish a complete lab space for merely a fraction of that price.
Through online communities, budding “biohackers” can also easily find peer support for their ideas and connect with others in their fields. For students, there is also iGEM, the International Genetically Engineered Machine competition. iGEM first started at MIT in 2003, expanding since then to 165 teams in 2011, including teams from Brown University as far away as Slovenia. Each year, teams around the world compete in the field of synthetic biology, creating an array of biological machines for different purposes using “biobricks”—specialized genetic sequences supplied by MIT scientists. Using a provided kit of biological materials like promoters and plasmids, participants devise their own experiments and mechanisms for completing a team goal. Take, for instance, some previous winners of iGEM who created a vaccine against common H. Pylori infections and ulcers that can conveniently be mass-produced by genetically modified E. coli bacteria.
The “biohacking” movement has the potential to produce remarkable solutions and discoveries in areas as varied as immunology, alternative energy, and pathology. Through low costs and open accessibility to equipment and materials, even scientists and students without institutional funding and state-of-the-art facilities can contribute to scientific progress. Biological research has been “democratized … [into] an enterprise accessible to anyone who wants hands-on scientific experience”, according to Ellen Jorgensen, founder of a community-based laboratory called Genspace in New York, in an interview with Discover Magazine. Jorgensen and the 11 other members of Genspace are currently pursuing a wide variety of projects, such as creating biofuel from algae and conducting science outreach at local elementary schools. In the future, “DIY-biologists” around the world might discover on a new method to detect contaminants in drinking water or the next remedy for a widespread disease.
Hugh Rienhoff is just hoping for a resolution to the unanswered questions about his daughter’s affliction. Recently, the Rienhoffs decided to put her on a drug trial for treating high blood pressure to prevent Beatrice from developing vascular disease later in life. Shealso now has slight improvement in muscle mass, able to walk up a few steps without assistance. Rienhoff keeps a watchful eye on Beatrice’s progress. In his home laboratory, he continues to comb through the latest research and genetic databases for that one gene and that one mutation to finally explain everything.
ADELA WU B’13 wants to be a closet scientist.