Could a massive leap forward for cystic fibrosis patients help children with cancer?

In 1989, a research team unlocked a valuable piece of information about a disease that affects an estimated 30,000 people in the United States. After years of study, researchers discovered the gene defect that causes cystic fibrosis (CF). That discovery launched an all-out war against the disease. Patient advocate groups funded research in academic laboratories where incremental discoveries began to unravel the basic biology of the disease.

In a CF patient, there is a malfunctioning protein that doesn’t do its job of balancing salt and water in the lungs. Over time, researchers found ways to correct the error in the protein for the most common problem. In 2019, the Food and Drug Administration approved a three-drug combination that could benefit 90% of patients who suffer from the disease. It is a modern breakthrough of science that began with a single genetic discovery.

“Finding the gene responsible for CF was a ‘needle-in-a-haystack’ problem,” said Francis Collins, the director of the National Institute of Health, and director of the team that found the needle. “But thirty years along, with many bumps along the road and so many people waiting and hoping that something like this would happen – here we are.”

How does this apply to children with cancer?

The model of discovery for this leap forward offers a compelling study into research and drug development for other diseases, including childhood cancer. To understand why, we must explore the differences between cancer in adults and children.

In adults, lifestyle-related risk factors, such as smoking, being overweight, not getting enough exercise, eating an unhealthy diet, and drinking alcohol play a major role in many types of cancer. But lifestyle factors usually take many years to influence cancer risk, and they are not thought to play much of a role in childhood cancers.

Most childhood cancers are the result of DNA changes that happen early in the child’s life, sometimes even before birth. Every time a cell divides into 2 new cells, it must copy its DNA. This process isn’t perfect, and errors sometimes occur, especially when the cells are growing quickly. The causes of DNA changes in most childhood cancers are not known but are likely to be the result of random events that sometimes happen inside a cell, without having an outside cause.

The only way to find the cause of these changes is through genetic testing (also called DNA sequencing). While the primary goal of precision medicine is to bring a therapy to a child that matches the genetic error fueling their cancer, there is also a broader use. By building a large data bank and comparing the genetic errors expressed in children across the world, scientists hope to unlock that “needle-in-a-haystack” for pediatric cancer.

Because there are many types of childhood cancers, there are many gene defects to find. To do so will take steady, ongoing research funded dollar by dollar over a period of time. The road may seem long and grueling, but we believe patience and persistence will yield significant results in the future.

In the meantime, precision medicine is already proving a worthwhile investment as doctors are able to tailor therapies to children on an individual basis. There are children who are alive today because of the findings of genetic testing and precision medicine!

But until all children diagnosed with cancer can benefit from it, there is still work to do.

Previously, the estimated life span of a cystic fibrosis patient was 44 years. For most, the recent discoveries will likely turn what was a deadly disease into a treatable condition.

Children with cancer deserve the same odds and outcomes. We believe precision medicine is the best method to make a similar drastic improvement in the survival rates. To read more about our precision medicine initiative, please click here.

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