Chad Carr, whose fatal battle with brain cancer made headlines and captured hearts around the world, has helped researchers looking for a cure for his condition make a significant discovery.
By studying Chad's brain tumor, pediatricians, neurosurgeons and pathologists with the University of Michigan's Pediatric Brain Tumor Research Initiative were able to identify a mutation of a gene called PTEN and its critical role in the development of diffuse intrinsic pontine gliomas, or DIPG, which are aggressive tumors.
Chad, the grandson of former University of Michigan football coach Lloyd Carr, died from DIPG in 2015 — 14 months after he was diagnosed. Chad's family donated his tumor tissue to research.
"It's amazing news," said Tammi Carr, Chad's mother, on Thursday. "To know that they found something that's going to impact research down the road, it gives more meaning to what we did and to Chad's short life."
On Thursday, researchers released results of the first study based on Chad's tumor. Their findings appear in npj Precision Oncology, an international, online peer-review journal that publishes scientific research in the study and treatment of tumors.
Carl Koschmann, a pediatric oncologist at the university's C.S. Mott Children’s Hospital and the study's lead author, said doctors already have been able to use drugs to target PTEN loss in adult breast and prostate cancer. PTEN is a gene in humans that's been identified as a tumor suppressor.
The study's researchers were able to analyze samples from six different areas of Chad's tumor and found PTEN gene loss in each area. Before the study, he said, PTEN loss wasn't seen as a major driver of DIPG.
"We're now able to say PTEN is a significant and early driver of DPIG as well as one we should focus our efforts on to find targeted treatments for," he said.
“This study strengthens the case that alterations of the PTEN gene play a more influential role than was previously understood and should be included in future sequencing panels for pediatric DIPG. If we find it, it’s something we can hopefully target with precision therapy.”
Researchers expect the study to be the first of several to be published as scientists continue to work toward a cure for DIPG, Koschmann said.
"I think where we are right now is in a period of an explosion of more detail about these tumors," he said. "This kind of information wasn't available prior to a few years ago. I would say we are very much within shot of changing the bar of how long these kids survive, with the clear goal of curing these tumors."
According to the Bethesda, Maryland-based Michael Mosier Defeat DIPG Foundation, DIPG is the leading cause of death from pediatric brain tumors. According to the foundation, just 10 percent of children with DIPG live for two years following their diagnosis. The average survival time is a mere nine months from diagnosis.
About 300 to 400 pediatric brain stem tumors are diagnosed every year in the United States, and DIPG accounts for more than 75 percent of them.
Keith Desserich, founder of the Cincinnati-based DIPG Collaborative, welcomed the development about the C.S. Mott Children's Hospital study.
"It's a good sign," he said. "It really sets up the next steps of how to go about curing DIPG on a bigger scale."
Based in Cincinnati, the collaborative is a coalition of more than 20 foundations that support research for a cure for DIPG . The collaborative funds as much as $2 million in DIPG research every two years.
Desserich and his wife, Brooke, lost their six-year-old daughter, Elena, to DIPG in 2007. They also run a nonprofit called The Cure Starts Now that belongs to the DIPG Collaborative.
Tammi Carr said Thursday the study and research are part of Chad's legacy.
"We just felt that for progress to be made, these donations have to be made," she said. "They have to be able to study this tissue to learn more about this terrible tumor. We wanted this to be Chad's final, physical gift."
Chad's parents, Tammi and Jason Carr, started the ChadTough Foundation to support research on DIPG and raise awareness of the disease. Chad was the youngest of their three sons.
"Chad inspired people by just being him," she said. "Unfortunately, his role here and his journey was a hard one. But he lived every day with a smile on his face, and I truly believe his life was to do this, to inspire people to change what's going on. It's a beautiful legacy for him, and he deserves it."