Doctor Determined to Create More 'Ah-Ha' Moments to Help Kids With Cancer
Ten years ago, children with a form of cancer called neuroblastoma could expect to be treated with very toxic drugs that could cure fewer than half of them. The children who are survivors have many short and long-term side effects. Today, an improved understanding of neuroblastoma biology is allowing the development of more rational and less toxic treatments. In fact, children (and adults) with a certain form of neuroblastoma have the option, at time of relapse, of taking a drug that can literally shut off the function of a mutated gene inside them that’s fueling the growth of their cancer. Very soon, this will become an option at the time of diagnosis to hopefully prevent relapse. For these patients, the new therapies mean a chance at living without the “C” word at the center of their lives. It was a long road getting to the new treatments, though, with countless hours in a research lab at the center of the story.
“After months of slogging away, we had that ‘ah-ha’ moment,” says Dr. Yael Mossé, an associate professor with Children’s Hospital of Philadelphia’s Center for Childhood Cancer Research and the woman behind that landmark breakthrough. “Something was abnormal in the genetic code of the gene we were looking at, ALK (Anaplastic Lymphoma Kinase). When we started to see it come up in all of the patients who had the inherited form of the disease, and the people we expected carried the abnormal gene and had passed it on to their child, we could hardly believe it,” she says.
Dr. Mossé’s specialty is researching the possible genetic causes of neuroblastoma, a cancer that starts in nerve tissue and is the most common form of the disease found in children under the age of 1. Her lab’s research surrounding ALK, a cancer-causing gene, has led to the breakthrough discovery of mutations that are the primary cause of inherited neuroblastoma. Those same mutations also play a large role in the more common forms of the disease that are not inherited.
It Was Personal
When she was young, Dr. Mossé wanted to be a pediatrician. “I just really wanted to take care of kids, but I had no interest in research. I had no idea what it was or the direct impact it could have on taking care of patients.”
In college Dr. Mossé watched her best friend get diagnosed with leukemia. Her head began to spin with questions of how and why young people could be diagnosed with cancer. She began to question the path she wanted to take. ”I decided to specialize in oncology, and each patient I saw drove home the point that I couldn’t improve treatments by simply being a clinician. There had to be more,” she said.
Mentors helped her see new ways she could ask questions and then go into a research lab and design experiments based on those questions. Dr. Mossé says, “If I could shed light on an area, I would be able to bring it back directly to the patient.” She knew this was her way to help pediatric cancer patients. She’d found her calling.
A Long Way to ‘Ah Ha’
Dr. Mossé’s breakthrough came on the heels of research that was first hypothesized in 1972. When her discovery came all these years later, she says, “It was extremely exciting and almost a blur. After working at it that long, when it finally happens, you have to convince yourself it’s real.” But she knows that the ability to keep working and trying new things in the lab was crucial.
“Convincing others that this work has broader relevance and will be impactful is key,” adds Dr. Mossé. Her research is funded in part by a $100,000 grant from the Northwestern Mutual Foundation, which works to accelerate the search for cures for childhood cancer and to support families fighting the disease.
Dr. Mossé argues that sustained funding of translational research is essential to fighting pediatric cancers because one never knows when a breakthrough may happen. She adds, “The support we get from groups like the Northwestern Mutual Foundation is immeasurable because it provides us with a direct impact. It gives us the opportunity to bring the most innovative trials to kids and apply our findings far beyond the children with rare cancers to children with more common forms of cancer. It’s incredible what we can do now.”
Her Fight Is Just Beginning
“The biggest challenge for me has been the subset of children with neuroblastoma where the mutation in the ALK gene is not in every cell in their body but restricted to the tumor,” says Dr. Mossé. In this context, turning off the ALK gene is much more complicated.
Helping discover effective and less toxic treatments for the children with the sporadic form of neuroblastoma is what Dr. Mossé says drives her now, and with good cause. Neuroblastoma is aggressive; Dr. Mossé says that close to 50 percent of children with the high-risk form of the disease suffer a relapse, and there is no known cure for these kids. The hope is that research like Dr. Mossé’s will lead to a better understanding of what directly fuels the growth of neuroblastoma in these children so that more effective treatments can be created.
“Our treatments have been extremely toxic, and we’ve only modestly improved the outcomes for these kids. Clearly this is not the right approach anymore,” says Dr. Mossé, “and that’s why I’ve been so motivated to try to understand the cells and genes involved. How can we provide some more rational therapies for these children?” Her quest continues both at her patients’ bedsides and in her lab.
A Moment in the Sun
Dr. Mossé will step out of her lab, for a few days at least, when she travels to Pasadena, California, to ride on the Northwestern Mutual float during the 128th Rose Parade® presented by Honda. This year’s parade theme is Echoes of Success, which celebrates the selfless contributions of others and how their inspirational gifts affect those around them.
Dr. Mossé will be joined on the float by a pair of her patients, a mother and daughter with the genetic and hereditary form of neuroblastoma. The float they will ride on celebrates the joy of being a kid, something that 7-year-old Edie Gilger’s parents may not have imagined for their daughter when she was diagnosed with cancer at 6 months old.
“I’ve learned that the impact of research goes far beyond the families involved in our clinical trials,” says Dr. Mossé. “We can now find those common threads and apply them to others impacted by cancer.” And with Dr. Mossé’s determination to keep heading back into the lab, there may be even more “ah-ha” moments ahead.