Elana Simon was just 10 years old when she began feeling intense pains in her belly. For two years, doctors were baffled, suggesting it might be lactose intolerance, Crohn’s disease, or even stress. But in 2008, they discovered the true cause: Elana was battling fibrolamellar carcinoma (FLC), a rare and often deadly liver cancer.
“Finally having a name for my condition brought some comfort after so much uncertainty,” Elana shared with the Observer. “Before knowing what it was, I lived in a mix of pain and fear. Now, I had something to tackle.”
Thankfully, surgeons managed to remove the tumor before it spread beyond her liver, allowing Elana to survive. Her journey didn’t stop there; she went on to excel, studying at Harvard and later joining the research team at New York’s Rockefeller University. This lab is led by her father, Prof Sanford Simon, who shifted his career focus to FLC research following his daughter’s diagnosis.
“The day I found out about Elana’s illness is etched in my memory,” Prof Simon recounted to the Observer. “I was determined to uncover its causes and find a cure.”
“At that time, I was a cell biologist, content with my career path. Elana’s diagnosis turned my world upside down, prompting me to dedicate my research to this cancer,” he added.
Prof Simon’s lab has since made significant strides in understanding FLC’s causes and behavior. Their efforts recently received a substantial boost, a £20m grant from Cancer Research UK, as part of the Cancer Grand Challenges awards. This funding aims to support research teams with innovative ideas to push forward cancer research.
A group including Prof Simon’s lab won this grant to develop new treatments for FLC and similar conditions. Currently, treatments for solid tumors in children are outdated, relying on old chemotherapy methods. The goal is to find simpler, more effective treatments.
This achievement speaks volumes about the progress made in FLC research. When Prof Simon began his work, the origins and nature of FLC were mysteries. “Was it a single disease, or were we looking at different conditions with similar symptoms?” he pondered.
Moreover, the cause of FLC was unknown. “We didn’t know if it was genetic or due to environmental factors,” he explained.
Elana, now pursuing a PhD in computer science and cancer biology at Stanford University, played a pivotal role in this research. As a high school student, she and a friend launched a YouTube campaign to collect tissue samples from other FLC patients. They gathered 15 samples, which were crucial for the Rockefeller team’s discoveries.
“We discovered that FLC is a single disease, caused by one mutation across all the samples we tested. This was a breakthrough,” Elana said.
The team also found that FLC is not inherited but caused by an environmental factor. “This means if you remove the tumor early, you can stop the disease from coming back,” Prof Simon added.
FLC is incredibly rare, with only a few hundred cases reported worldwide each year, though some studies suggest the number could be in the thousands.
“The key is that childhood cancers like FLC have fewer mutations, making it easier to understand their progression. This can provide insights into other cancers,” Prof Simon noted.
This research has broader implications, as seen with the rare eye cancer, retinoblastoma. Studying it led to the discovery of tumor suppressor genes, paving the way for new cancer therapies.
“Our hope is to extend these insights from FLC research to other cancers. The Cancer Grand Challenge funds are a significant boost to our efforts,” Elana stated.
The ultimate goal is to develop simple, pill-based treatments for FLC, especially for regions with limited healthcare resources. “Creating accessible drugs is our ultimate aim,” Prof Simon concluded.