The fact that childhood cancer is, thankfully, rare belies the fact that it is the leading cause of disease-related death in U.S. children age 1 to 19. The number of people with a direct stake in expanding research into pediatric cancer is quite large, well beyond the small number of children with cancer and their families. Not only are the life-long contributions of children cured of cancer enormous, but understanding cancers of young children could also hold the key to understanding a broad range of adult cancers. The time is ripe to allocate more resources, public and private, to research on pediatric cancer.
In an age of increased understanding of the genetic basis of diseases, one thing is striking about many childhood cancers. They are relatively “quiet” cancers, with very few mutations of the DNA. Young children haven’t lived long enough to acquire the large number of mutations that create the background “noise” associated with years of living. This makes it much easier to pinpoint the relevant genetic abnormalities in a young child’s cancer.
Add to this the growing realization that biology, including how various tumors use common “pathways,” is a major factor in how the cancer responds to treatment. Thus, a mechanism that’s relatively easier to observe in the cancers of young children could help scientists understand cancers in adults, in whom the same mechanism is hidden amid the clutter of mutations acquired over a longer life. …
Saltonstall spoke today with five other panelists at Boston Children’s Hospital’s Global Pediatric Innovation Summit + Awards in a session titled, “Rare diseases: Lessons from the path less chosen.” David Meeker, MD, president and CEO of Genzyme, moderated. …
Vector took a moment this morning at the Boston Children’s Hospital Global Pediatric Innovation Summit + Awards to catch up with the Gene Discovery Core at the Manton Center for Orphan Disease Research. Its exhibition table doesn’t have fancy mannequins or flashy screens, but this team is rocking genetics and genomics, one patient at a time.
The usual methods for finding disease-causing genes don’t work for many patients who walk in the doors of Boston Children’s, or who mail in samples from all over the world. They may be one of just a handful of patients in the world with their condition—which may not even have a name yet. …
In the world of fatal congenital immunodeficiency diseases, good news is always welcome, because most patients die before their first birthday if not treated. Babies with severe combined immunodeficiency disease, aka SCID or the “bubble boy disease,” now have more hope for survival thanks to two pieces of good news.
Seeing that his mother, Kadriye, wasn’t looking, Emir Seyrek got an impish grin on his face, the kind only a two-year-old can have. He quietly dumped his bowl of dry cereal out on his bed and, with another quick look towards his mother, proceeded to pulverize the flakes to dust with his toy truck. The rest of the room burst out laughing while his mother scolded him. Despite the scolding, though, the impish grin remained.
It’s been 28 years since a missing dystrophin protein was found to be the cause of Duchenne muscular dystrophy (DMD), a disease affecting mostly boys in which muscle progressively deteriorates. Dystrophin helps maintain the structure of muscle cells; without it, muscles weaken and suffer progressive damage, forcing boys into wheelchairs and onto respirators.
This post is the first in a two-part series on clinical trials in autism spectrum disorders. Read part 2.
In the world of neurodevelopmental disorders, an exciting trend is the emergence of specific molecular targets and treatments through genetic research. A case in point is IGF-1 therapy for Rett syndrome, a devastating disorder in girls that affects their ability to speak, walk, eat and breathe. It causes autism-like behaviors, intellectual disability and repetitive hand-wringing movements—a hallmark of the disorder.
Now what? How do we go about making clinical genomics an everyday thing? The discussion left the answer to that question—and the other questions it raises—unclear. While the panelists expressed excitement about what’s possible, they cited great uncertainty among doctors, scientists, patients, payers, companies and regulators about how to make clinical genomics work. …
Clinicians wanting to develop new devices and treatments for children face formidable barriers: regulators’ need to protect the most vulnerable coupled with a lack of commercial interest. But determined innovators do have options, including creative funding sources, says Thomas Krummel, MD, director of surgical innovation at Stanford Medical School.
“Technology developed specifically for children has been a low priority,” Krummel began at a two-part talk at Boston Children’s Hospital this summer (read our coverage of the other part). “The FDA barriers are incredibly high, and ultimately, investors just demand returns that pediatric markets won’t necessarily deliver.”
As Krummel detailed, the FDA barriers are there for a reason: a past history of ethical abuses in human subjects research. In 1966, physician Henry Beecher, MD, exposed many examples in The New England Journal of Medicine, such as withholding effective treatment for the sake of research, proceeding with a treatment despite recognized hazards, or failing to disclose risk to patients. Institutional Review Boards (IRBs) arose in the mid-1970s to protect research subjects—protections that are especially strict when that research is done in children.
But there’s also a deep-seated reluctance to break with the status quo. …
The history of hematopoietic stem cell transplant (HSCT) starts with severe cancers of the blood or immune system, like relapsed leukemias or lymphomas. Today, HSCTs are no longer solely the treatment of last resort for cancer but is used to treat a growing list of pediatric and adult conditions.
Most of these are cancers and blood disorders, but in recent years, a new frontier has opened up for HSCT: treatment of metabolic diseases, in particular, ones that affect the function of the brain.