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(85,998 posts) Tue May 27, 2014, 06:37 PM May 2014

Learned a little more about WH Science Fair participant Elana Simon's cancer research- Wow

D Wasserman Schultz ‏@DWStweets 13m
Learned a little more about #WHScienceFair participant Elana Simon's #cancerresearch. #inspiration #wow #beatcancer http://nyr.kr/1kIg3NY

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 . . .

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 . . .

read more: http://www.newyorker.com/online/blogs/elements/2014/02/open-sourcing-cancer.html