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An excerpt from We the Scientists: How a Daring Team of Parents and Doctors Forged a New Path for Medicine

Until the late nineteenth century, there were no professional scientists. Science was pursued by anyone with curiosity, intense passion, or personal interest in a topic. … In the twentieth century, however, the notion that anyone could be a scientist gave way to the establishment of a profession. Science became a guild. To get in, you needed years of study, the acquisition of expertise, specialized training under the tutelage of seasoned veterans, and a university degree.

Over time, scientific projects got more complicated, and more expensive, to run. Governments stepped in, providing grants to fund research. As stewards of public monies, they required that recipients demonstrate some sort of sanctioned expertise. Professionals directed the studies, evaluated the utility of the projects, gathered the data, and analyzed and published the results.

Scientists still needed help from wider society. For one thing, they wanted patients and families to lobby Congress for more government funding to support basic science and advocate for bigger budgets for agencies that gave research grants, such as the National Institutes of Health. They needed patients to enroll in the clinical trials they organized, and to donate blood, tissue, and other samples to help advance their research, which revolved around questions they found the most interesting. …

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When I first began reporting on the NPC [Niemann-Pick disease type C] project, I could see the parents and scientists were trying to construct a fundamentally new kind of collaboration. They were good people who all wanted to save the children’s lives. But despite their common goal, it quickly became apparent that they had different attitudes and approaches toward the production of science. For over half a century, the focus in medical research had been on discovery launched by an individual investigator and experiments inside a lab. The parents tried to force the lab doors open. They didn’t intend to follow the usual rules. …

… This new group of citizen scientists started collecting data about themselves. They released patient-driven studies online — and found themselves cited as experts by the director of the NIH, who in a blog post about their work linked to their self-reported data alongside a paper published in a traditional scientific journal. The pandemic offers a historic opportunity to finally build an infrastructure that can both enable and grow citizen science. It is too soon to know if the sense of urgency and spirit of collaboration that marked the early days of Covid will continue once the acute phase of the pandemic starts to recede. I realize that there are scientists who likely still remain unconvinced that collaborating with citizen scientists is a good idea. They might continue to insist that only those with elite and specialized training can do the work they do, or raise concerns that people who are not professionals could end up pursuing questionable or even potentially dangerous treatments in a desperate attempt to save themselves or their loved ones. There are also certainly members of the public that don’t see themselves as experts, capable of shaping and directing and participating in meaningful scientific research. Still, I like to think that after they read this book, they will be persuaded by the evidence and change their minds — just as the very best scientists often do. …

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Chris Austin [MD ’86] was the neurology resident on call one evening in 1989 when a severely ill patient arrived by ambulance to his hospital in Boston. The patient had late-stage amyotrophic lateral sclerosis, or ALS, a fatal neurological disorder also known as Lou Gehrig’s disease, that paralyzed people’s muscles. The man had signed a do-not-resuscitate order and wanted to die at home, but because of a mix-up, the paramedics revived him. Angry that his wishes had been disobeyed, the man requested that the ventilator keeping him alive be shut off. Doctors at the hospital complied with the patient’s plea. The twenty-nine-year-old Chris sat with the family at the bedside, watching as a life ebbed away. It took three hours before the man took his final breath.

Through the long and agonizing vigil, Chris felt increasingly enraged not only at his own helplessness but at a system that seemed to be failing its most central task: healing the sick. Chris had undergone years of grueling and intense training at some of the top institutions in the country. He graduated summa cum laude in biology at Princeton University, earned his medical degree from Harvard Medical School, and was accepted for a top-tier neurology residency at Massachusetts General Hospital, one of the premier hospitals in the country. He was the product of the best that medicine had to offer, and yet in his retelling of the story, he couldn’t offer much. He always emphasized that his job that evening was to “turn off the monitors when the patient died.” His moral distress that he could not do more shook him to the core. …

The diseases Chris encountered most frequently in the neurology clinic were intractable and devastating. Huntington’s disease relentlessly destroyed nerve cells in the brain. Alzheimer’s disease stripped people of their memories and identity. Chris’s patients came into the office seeking hope and, more often than not, he had no effective therapy to offer. He usually wasn’t even able to point to a promising drug on the horizon. “I couldn’t stand simply telling patients with incurable neurological diseases that there was nothing we could do for them and having that be my life’s work,” Chris recounted.

As a doctor, Chris saw one patient at a time and tried to alleviate their symptoms. He valued the relationships he developed with his patients and their families. Working in a neurology clinic, taking care of people over the course of many years, gave him insight into the magnitude and burden of the diseases he treated. He saw the devastation that the loss of memory, abilities, and function wreaked, not only on the patient but also on loving family members, friends, and colleagues who struggled to help. The reverberations from the death of a single person affected an entire community. Chris tried hard to improve patients’ lives, but he decried the system that left him with so few options. He wanted to try to change the course of the disease not only for the person sitting in front of him but also for “the many, many patients out there, even those I won’t see,” he said.

He set out to understand the ecosystem of medicine. He joined the lab of Constance Cepko, a developmental biologist and geneticist at Harvard Medical School. He figured that by studying genetics, his findings might lead to advances in the field, potentially reaching more people than he could care for in a clinic. In the lab, he learned the foundations of basic genetics, devising experiments with model organisms such as mice and fruit flies that sometimes shared important common genes with humans. …

While Chris spent most of his time running experiments in the lab, he continued to see neurology patients, moonlighting at Massachusetts General as well as at a community hospital that had a walk-in clinic where patients with no insurance could come in off the street …

Science and the scientists who loved and practiced it were isolated from the people they wanted to help and needed to engage in order to advance. “Research is ultimately about the patient, about humanity,” Chris said. “But on a day-to-day basis, it is divorced from that …”

Everywhere he looked, he saw a divide. Researchers didn’t focus on the body as a whole, but rather specialized in its many different parts; cancer doctors treated the breast, prostate, or brain as if they were separate entities, even though the gene mutations that caused cancer in one organ might be the same in another, or located along common molecular pathways. Drugs that were already being prescribed for one disease might be useful in treating another, but there was no systematic program that tried to identify these compounds. …

…  By November 2002, he was ensconced at the NIH as senior adviser for translational research to Francis [Collins]. …

Chris came to the NIH at a time when the agency’s mission was the subject of public debate. The NIH’s funding came from the people, and therefore, some scientists argued, the money should be spent on basic research, studies that focused on fundamental scientific questions or tried to understand the processes that drove disease. Funding the research to turn ideas into drugs that could be used at a patient’s bedside should be left up to the pharmaceutical companies, this line of argument went.

Chris knew from his own experiences that patients, especially those with rare diseases, could not rely on drug companies to find solutions for them. One only had to look at the statistics: there were around seven thousand known diseases that affected humans, and only five hundred had treatments. Many people were left without recourse or options. …

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Chris set out to build a lab containing sophisticated equipment that could do rapid screening of drug libraries, enabling a more accelerated approach to identifying potential compounds to treat disease … Chris built a robotics system at the NIH lab that could do the type of automated screening typically employed at drug companies. It cost around $30 million, was fully automated, and included three robots that worked round-the-clock, twenty-four hours a day, seven days a week. Chris estimated the robots screened hundreds of thousands of compounds every day. …

To help spread the word about the lab, Chris spent a lot of time on the road traveling … Chris figured that the people most likely to want to partner with NIH would be scientists working at universities or medical centers who didn’t have access to the kinds of sophisticated screening technologies the new NIH lab boasted.

But increasingly, much to his surprise, Chris also fielded requests for help from people who were not scientists. Many of them barely recalled the fundamentals of their high school biology class but had turned themselves into experts on conditions most general practitioners never saw. At rare disease conferences, after Chris gave a talk, ordinary people with no scientific training at all frequently waited for the crowds to disperse so they could tell their stories to him. Some were parents of children with fatal diseases who had raised funds and were looking to support good ideas that might help their children and accelerate the development of a drug.

Chris wanted to build a scientific team consisting of patients and advocates and parents as well as scientists, clinicians, and researchers. Could professional scientists and citizen scientists work together as partners and combine their different types of expertise?

Scientists could never know the answer for sure unless they ran the experiment. Now all Chris needed was an opportunity to test the idea. He finally got the chance in November 2007.

More than a dozen people showed up for the meeting in Chris’s lab to discuss the prospect of working together. …

… Chris took the visitors to see the robots. Standing together, the parents and scientists watched as a robot claw added patients’ cells to small plates, then moved them to another place in the work area where drugs and chemicals were added. During the tour, [a visitor] asked Chris Austin whether they had named the robots yet. The scientist said they had not. “I have a name for you,” [the visitor] said. “I think you should name it Hope.” …Looking back on the day years later, [Austin] said, “I felt like we might actually be able to conquer this thing working together.”

Amy Dockser Marcus, MBE ’17, is a staff reporter for The Wall Street Journal. In 2005, she was awarded the Pulitzer Prize for Beat Reporting for her series on cancer survivors and the challenges they faced living with the disease. This edited excerpt from her 2023 book We the Scientists: How a Daring Team of Parents and Doctors Forged a New Path for Medicine appears with permission of the author and the publisher, Riverside Books Penguin Random House.

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