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.”

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.

When Lauren was only two years old, her parents noticed a lump in her abdomen and got the worst news imaginable. Their happy, beautiful baby was diagnosed with neuroblastoma – a pediatric cancer of the nervous system. They immediately entered a world of chemotherapy, radiation, surgery, and too many side effects to mention. But after several months, Lauren’s tumor shrunk, and she was declared cancer-free.

When her health improved, Lauren dreamed of being a cheerleader. She joined a competitive squad and even made her school team. She loved every practice, meet, and football game, and she worked very hard to be her best. At 15, she was primed for high school cheering until she began experiencing hip and leg pain that sidelined her. Being so active, a doctor suggested she had arthritis in her hips, so her first attempt at recovery was physical therapy.

Lauren had run out of treatment options.

When treatment options have been exhausted, there is little hope of survival. But through CURE’s funding of the Aflac Precision Medicine Program, doctors have a new tool in their toolkit. Lauren was enrolled in the program to see if there was a genetic reason her cancer was resisting treatment. Genetic testing revealed Lauren’s tumor had a genetic mutation for which there is a drug known to be effective. Lauren was immediately enrolled in a clinical trial for lorlatinib. She was given a single pill once a day, and after only four cycles, all bone metastases and bone marrow involvement had disappeared. Incredibly, the only tumor remaining at that time showed inactive.

Of course, Lauren was ecstatic with the results. She attended Spellman College in the fall of 2019. Unfortunately, Lauren’s cancer came back during her second semester and she succumbed to the disease in February 2020. While the gene therapy didn’t lead to an ultimate cure, it did afford her an extra year of joy and happiness as she pursued her dreams.

Despite the obstacles that cancer put in her way, she had an incredibly positive and hopeful attitude. Just before she passed away, she said,

“My cancer journey has made me realize that you have to live life to the fullest and never give up!”

In 2017, CURE made an unprecedented $4.5 million commitment to the Aflac Cancer Center of Children’s Healthcare of Atlanta to launch the Aflac Precision Medicine Program (APMP). With this award, the Aflac Cancer Center would become one of only a small handful of pediatric cancer centers nationwide able to offer this cutting-edge treatment approach to children with cancer.

An easy way to understand precision medicine is to think of it as “personalized medicine.” Although we know that every child is unique, today’s childhood cancer treatment does not take into account the genetic differences of each child. Rather, a child’s cancer is treated according to disease type. But often, children with the same type of cancer respond differently to the same treatment. A chemotherapy which is effective for some may fail altogether for others because of the genetic differences at play. That is where personalized medicine comes in.

Over the past twenty years science has made incredible leaps in discovery by finding what is referred to as genetic barcodes – our DNA and RNA. We now understand what healthy cells look like and can often find triggers or markers in a tumor where something went wrong with a gene. By locating and isolating that problem and finding chemotherapies or other treatments proven effective against the genetic problem, doctors hope to improve survival while also minimizing exposures to toxic treatments which are not likely to work.

“There are really four outcomes when we look at genetic information taken from a child’s tumor,” explains Dr. Douglas Graham, Director of the Aflac Cancer Center. “The first is the perfect storm – we find a target that has a drug which is known to be effective against it and that drug is approved for children. We also may find a target with a matching drug that is not approved for children and would have to petition for access. The other options are not as optimistic. We may find a target with no drug known to work against it or we may find no target at all.”

The first step in the process is getting the child’s genetic information. Since July 2018, CURE has funded the genetic sequencing of more than 200 children with high risk or refractory cancers who would not have otherwise received the sequencing through another source.

 For 78% of the children sequenced, their treatment was impacted by the genetic information obtained!

CURE Childhood Cancer remains determined that precision medicine is one of the most promising methods for improving survival rates in children. And we steadfastly believe that our children deserve the best and safest options available.

Maylee has always been kind, intelligent, and slightly feisty. Since her birth in Lagrange, Georgia, she has also been a picture of health. So when she got a violent stomach virus at the age of three, her mother, Kristin, knew it was more than just a bug.

“I never expected she would go through life without being sick,” Kristin said. “But I knew right away this was different and something much worse.”

Mom was right. As the emergency room staff began giving Maylee fluids, they also tested to see if she had meningitis. Those tests found something much more sinister; Maylee’s blood had leukemia cells in it. After confirming the diagnosis, her doctor sent her by ambulance to Children’s Healthcare of Atlanta where she would spend the next six weeks.

Maylee and her family began to settle into a new routine of normalcy. She welcomed her second brother into the world and began school. But during the summer of 2018, she began to snore. It might seem innocuous, but Kristin’s mother’s intuition struck again because she had been told sleep apnea can be a sign of relapse. As they rode to the hospital for doctors to evaluate Maylee, Kristin began steeling herself for another fight against cancer, feeling the familiar mix of fear, faith, and comfort.

Something new awaited Maylee at the hospital, though. Since her original diagnosis and with a $4.5 million grant from CURE, the Aflac Precision Medicine Program had launched. This program allows doctors to look at the genetic makeup of a child’s cancer and then search for a treatment designed specifically to treat the genetic abnormality at issue. Once doctors confirmed her cancer had returned, they looked at the genetics of Maylee’s leukemia and found very interesting results.

The genetic testing revealed that Maylee has a gene called CEBPA, which causes her to be predisposed to developing leukemia. Strangely enough, doctors were happy to find this gene because they know it responds well to treatment. If genetic testing had been available when Maylee was originally diagnosed and this gene discovered, Maylee’s treatment would have been different. Rather than the months of chemotherapy, Maylee would have immediately received a bone marrow transplant. Thankfully CURE’s funding allowed the program to launch in 2017, in time to help Maylee when her cancer returned not to mention so many other children yet to be diagnosed.

Maylee has since had what is called an allogenic stem cell transplant and is recovering nicely. She is once again in remission and focusing on getting well.

The discoveries from her genetic testing didn’t end there, however. Doctors also found that her leukemia is familial and that her two brothers share the gene that predisposed Maylee to it. Maylee’s brothers were immediately enrolled in the new genetic predisposition clinic.

“We had many different options available to us when they found out,” explained Kristin. “We chose to monitor the boys and watch for any symptoms. There is no guarantee that they will ever have leukemia. We just need to look for things out of the norm, and since they are enrolled in the predisposition clinic, we can have bloodwork done immediately.”

Maylee has completed treatment and is home growing stronger each day. She ultimately forgave her doctors but was thrilled to leave them behind. While she gets better, Maylee dreams of a return to normal life with no more hospitals, cancer, or chemo. And as each day passes, she inches closer to lacing up her cleats and playing soccer without a care in the world besides the goalie in her way.

In 2017, CURE made an unprecedented $4.5 million commitment to the Aflac Cancer Center of Children’s Healthcare of Atlanta to launch the Aflac Precision Medicine Program (APMP). With this award, the Aflac Cancer Center would become one of only a small handful of pediatric cancer centers nationwide able to offer this cutting-edge treatment approach to children with cancer.

An easy way to understand precision medicine is to think of it as “personalized medicine.” Although we know that every child is unique, today’s childhood cancer treatment does not take into account the genetic differences of each child. Rather, a child’s cancer is treated according to disease type. But often, children with the same type of cancer respond differently to the same treatment. A chemotherapy which is effective for some may fail altogether for others because of the genetic differences at play. That is where personalized medicine comes in.

Over the past twenty years science has made incredible leaps in discovery by finding what is referred to as genetic barcodes – our DNA and RNA. We now understand what healthy cells look like and can often find triggers or markers in a tumor where something went wrong with a gene. By locating and isolating that problem and finding chemotherapies or other treatments proven effective against the genetic problem, doctors hope to improve survival while also minimizing exposures to toxic treatments which are not likely to work.

“There are really four outcomes when we look at genetic information taken from a child’s tumor,” explains Dr. Douglas Graham, Director of the Aflac Cancer Center. “The first is the perfect storm – we find a target that has a drug which is known to be effective against it and that drug is approved for children. We also may find a target with a matching drug that is not approved for children and would have to petition for access. The other options are not as optimistic. We may find a target with no drug known to work against it or we may find no target at all.”

The first step in the process is getting the child’s genetic information. Since July 2018, CURE has funded the genetic sequencing of more than 200 children with high risk or refractory cancers who would not have otherwise received the sequencing through another source.

 For 78% of the children sequenced, their treatment was impacted by the genetic information obtained!

CURE Childhood Cancer remains determined that precision medicine is one of the most promising methods for improving survival rates in children. And we steadfastly believe that our children deserve the best and safest options available.

“We chose Target Pediatric AML because leading researchers agree that this project has the highest potential for a cure in the next five years,” said Joe Depa, Melissa’s father. “All children fighting AML have their tumor samples banked, and when we spoke with the project’s lead researcher, Dr. Soheil Meshinchi, he become emotional as he connected the samples he was studying with our families and our children. We could feel his passion immediately.”

Target Pediatric AML aims to facilitate genomic sequencing for every child fighting AML, searching for unique identifiers and vulnerabilities of the disease in young patients. Once these factors are identified, the hope is that the information will allow existing agents to be delivered in the right combination to effectively treat children fighting the disease. This knowledge will enable expansion of the treatment toolkit and jumpstart more informed, individualized therapy.

The project has already had some key wins:

• The project has created the world’s largest database of genetic data for pediatric cancer patients. The team has provided genetic sequencing (mRNA) for more than 1200 AML patients.
• A new therapeutic target has been identified and funding has been secured for clinical trial. Mesothelin was identified as a therapeutic target in AML. Typically found in lung cancer patients, genetic profiling revealed this protein in AML patients, as well. Bayer Pharmaceuticals has an anti-mesothelin drug for lung cancer and has agreed to participate in a clinical trial in 2018 to test its effectiveness against pediatric AML.
• Additional targets are under development. Based on the RNA sequencing, over 100 potential targets have been identified and are undergoing verification for therapeutic development.
• The information and database is shared publicly. All health institutions, pharmaceutical companies, and researchers can access and leverage the genetic data acquired with the hopes that collaboration will lead to provide more targeted therapies.

The underlying fact is that all children are unique and their cancers are also very different. If we can find common targets in the genomic make-up of AML, we might be able to fight these targets with existing therapies or therapy combinations.

“There are many different subtypes of AML,” explained Joe. “In fact, each of our three children had a completely different type. And yet, today’s treatments are basically the same for every subtype. This project is searching for individual therapies for every child to improve their survival rate. It’s too late for Lake, Mary Elizabeth, and Melissa. But we hope someday their names are attached to a cure for AML so that other families win their fight. We owe them that much.”

To learn more about the United for a CURE Fund, please click here: