Tag: science

“Curiosity killed the cat.” I heard that a lot growing up.

Here’s another phrase that stuck with me- “Theirs not to reason why, theirs but to do and die.” That, from The Charge of the Light Brigade, celebrating valiant soldiers. It made an impression, all those messages to mind your own business, just follow along and don’t ask questions. Curiosity seemed to be dangerous, or at least something to be discouraged. Some people behaved as if your curiosity confronted their sense of competence or authority. Others saw “why?” as a challenge instead of a catalyst for discovery.

Of course, scientists embrace curiosity. It fuels their passion and carries them over the months and years it takes to do their work. Even so, I think it takes a certain amount of self-confidence and tenacity to pursue those questions you’re trying to answer. That may sound strange, but given the tendency for your “why?” to be answered by “because…” you need a certain amount of drive and inner strength to empower your curiosity.

Elana Simon has those qualities – she was born into a family of scientists. But she also had a difficult time growing up – she suffered from a mysterious, debilitating stomach pain that just wouldn’t go away.

With all their training and scientific background, her parents and numerous doctors were unable to determine what was ailing her. Finally, after years of doctors and tests, false steps and mis-diagnoses, they discovered she had a very rare form of cancer that afflicts children and young adults. Even though it was not good news, when she was diagnosed with fibrolamellar hepatocellular carcinoma, at least she knew what was causing all that pain. This extremely rare cancer attacks about 200 adolescents and young adults each year. With no cure, only surgery could save her life. At 12 years old she went into the hospital and her pediatric surgeon removed most of her liver. Fortunately the cancer was caught in time.

Children are resilient and Elana recovered. Now what would you do after an experience like that? Some kids would just want to be a kid again. Others might feel damaged or be caught in a web of emotion. But Elana was curious. What caused this mysterious illness? How could it be detected in others before it wreaked havoc? What else could she learn about it?

She went online to see what she could discover. She found:

“The more I found the less encouraging things became. People didn’t know that much about it and people didn’t seem to be doing much about it.”

 

With so few people afflicted by the disease, there was almost no available data. She became determined to find out more and she did. For Elana, curiosity opened a door to a key scientific discovery – a genetic abnormality that may ultimately be the source of her own life-threatening illness. In four years she went from cancer victim to cancer survivor to cancer researcher. Elana initiated a research project to discover the cause of her rare cancer. She also developed a website for sharing data and co-authored a research paper published in Science to report the results of her genetic study. She’s now at work on a second paper describing her research findings. All of this, she accomplished while still a student in high school.

Using time after school and during summer vacations, her curiosity and skill with computers led to an internship at Mount Sinai School of Medicine. Her initial project was to hunt for genetic mutations in elderly pancreatic cancer patients. But, she soon encountered a major stumbling block – as people age they acquire thousands of harmless genetic mutations. With so many genetic variations in each elderly person, how could she find which genetic changes were meaningful?

As she thought about it, she realized that young people have very few genetic mutations, so perhaps similar research on young fibrolamellar patients would yield better results. She proposed that idea to her surgeon at Sloan-Kettering Cancer Center. He agreed to help and began collecting tumor tissue from patients. Finally they had samples from 15 people. Would that be enough to find meaningful results?

 

Elana set up a lab at Rockefeller University where her father is a biologist. With the help of other researchers from Sloan-Kettering and the New York Genome Center they went to work searching for genetic anomalies. The results were more than surprising. In every case, in every tumor, a piece of DNA had broken off and rejoined to create a new, mutated gene. From the Rockefeller University news release, Elana explains:

“Because of the deletion and rejoining of the DNA, a new gene that was a mixture of two previous genes was created, called a chimera. A number of other types of tumors have been shown to be driven by chimeras, but this one is unique – it codes for a kinase, an enzyme that modifies other proteins, that has not been identified in cancers.”

The researchers found that the kinase enzyme was made only in tumor cells and it was “constantly active,” which may explain the tumor’s rapid growth. With Elana’s research, they now have a potential genetic marker for the disease and a promising path to explore for possible treatments and a cure.

Her father added, “Genomics is allowing us to classify cancers based not on the organ they originate in, but on the molecular changes they trigger. Now that we know about this new chimera kinase, we can look for it in other cancers and work to develop new tools that will someday radically improve our ability to fight disease.”

With NIH support, Elana developed an online registry where fibrolamellar patients share medical records. It will also serve as a tool to collect data from patients in other hospitals, cities and countries to support further research.  The registry has the potential to become a model for a system to track other diseases. Here’s a short, well-made video exploring Elana’s story from the American Association for Cancer Research:

With the help of her father and other researchers, Elana was able to transform her personal misfortune into what may be a significant scientific discovery. Yes, she was fortunate to have family connections to state-of-the-art research facilities. She also was highly motivated and had a feeling for the science. But I think there’s more to it than that.

Elana doesn’t see herself as a victim of her cancer. Rather, there’s a self confidence and determination to search for answers. It’s easy to believe her success at such a young age is only the beginning of what she’ll accomplish, guided by that powerful quest to understand the “why.” Curiosity is a catalyst. As it launches us on a journey, there’s no telling where it might take us. What are your thoughts about curiosity? Does it play an important role in your pursuits? Leave a comment, let me know what you think.