Elana Simon was given a diagnosis of a rare form of liver cancer at the age of twelve. Six years later, a few months shy of her high-school graduation, she is not only a survivor but a certified cancer researcher: today, she published an article about her disease, fibrolamellar hepatocellular carcinoma, in Science, one of the world’s most important scientific journals.

One of the unique issues that Simon and others with extremely rare illnesses face is that there’s often not enough data to know exactly how to treat them. There are approximately two hundred and thirty thousand new cases of prostate cancer each year in the United States, compared to roughly two hundred new cases of fibrolamellar. This means that doctors know far less about the progression of rare diseases—and, because there are so few cases, they are often misdiagnosed. Meanwhile, drugs for rare diseases are often more difficult to develop, because sample sizes for experimental trials are necessarily smaller.

The paucity of data that could help treat rare diseases is exacerbated by doctors’ reluctance to share what little information does exist, because hospitals tend to compete with one another rather than collaborate. For instance, if a hospital treats a young child with an uncommon ailment, the data it collects in the process often goes unseen and unheard of by doctors at other hospitals. Hospitals often keep data and cell culture to themselves, as anyone who has read Rebecca Skloot’s “The Immortal Life of Henrietta Lacks,” which documents how cells from the tumor of a poor farmer were used extensively in medical research over the past half century, might realize.

As a high-school student, Simon worked to understand her own disease and volunteered at Mount Sinai Medical Center. Before long, she realized that simply finding and aggregating data was deeply important. With the help of a friend and the surgeon who treated her at Mount Sinai, Simon set up a lab at Rockefeller University, where her father is a biologist, and began collecting cancerous tissue from several other patients facing fibrolamellar for the study published today.

The sample size was small—just fifteen subjects—but the data was astonishingly clear and consistent: a genomic analysis revealed a single common gene mutation in the tumor of every patient. Importantly, the mutation was found only in the tumor, not in the surrounding tissue, potentially suggesting a precise diagnostic for fibrolamellar cancer. That analysis has also helped identify specific genes that are turned on in fibrolamellar, which could be targets for treatment.

Simon’s experience also led her to spend the past year developing the Fibrolamellar Registry, a Web site where fibrolamellar patients can share their medical data. The service acts as both an electronic medical-record repository and a tool for collecting data from patients in different hospitals, cities, and countries. A number of parties, including clinicians, computer scientists, and the National Institutes of Health’s office of rare diseases have agreed to join the project as collaborators. Ideally, the registry could serve as a model for larger, more general systems that track all diseases, where individuals can share anonymized data for clinicians from any institution to analyze.

As Simon put it to me over the phone earlier today, patients usually freely surrender their tissue and information to hospitals, but why should they? “It’s their information, it’s their health, so they should have the right to do with it what they want,” she said. Perhaps the best thing patients can do is to give their data away for free to work, bit by bit, toward a cure. The open-access movement has worked for software and genetics; it can work for medicine, too.

Photograph: Jim Varney/Science Source