This Thanksgiving week, as Epilepsy Awareness month closes out, we’re gratified to see an innovation tested here at Boston Children’s—a wearable device for patients with epilepsy—move toward commercial development. Called Embrace, it’s like a “smoke alarm” for unwitnessed seizures that could potentially prevent tragic cases of sudden, unexpected death from epilepsy (SUDEP):
The Bluetooth-enabled, sensor-loaded watch, designed by Rosalind Picard, ScD, and colleagues at the MIT Media Lab, can detect the onset of a convulsive seizure based on the wearer’s movements and autonomic nervous system activity. Full story »
It’s increasingly clear that good health care is as much about communication as about using the best medical or surgical techniques. That’s especially true during the “handoff”—the transfer of a patient’s care from provider to provider during hospital shift changes. It’s a time when information is more likely to fall through the cracks or get distorted.
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. Full story »
Parents, clinicians, app developers, designers and more had 18 hours to prototype digital healthcare solutions at Hacking Pediatrics, produced by Boston Children’s Hospital and MIT Hacking Medicine. To accompany our earlier post, we created this Storify. Full story »
The hackathon, produced by Boston Children’s Hospital in collaboration with MIT Hacking Medicine, brought out many common themes: Helping kids with chronic illnesses track their symptoms, take their meds and avoid lots of clinic visits. Helping parents coordinate their children’s care and locate resources. Helping pediatric clinicians make better decisions with the right information at the right time.
Hackathons have a simple formula: Pitch. Mix. Hack. Get Feedback. Iterate. Repeat—as many times as possible. Full story »
Health care institutions, universities and even the U.S. government are helping innovators hone their pitches and get backing.
On ABC’s reality show “Shark Tank,” a panel of veteran investors listens to business pitches for everything from new dietary supplements to a nail salon for men. After asking tough questions, each shark either backs the venture—sometimes not for the reasons you’d think—or more likely declares, “I’m out.”
It’s a great infotainment formula—even my 10-year-old daughter is a fan—but it’s also a hit beyond the living room. Health care organizations are increasingly borrowing the “Shark Tank” script to get new ideas or to bankroll their own innovations. Boston Children’s Hospital is doing so at our Global Pediatric Innovation Summit + Awards (Oct. 30-31), bringing in “Shark Tank”’s Daymond John to moderate. But we’re certainly not alone. In recent months: Full story »
Understanding the genetic causes of nephrotic syndrome could lead to better drug treatments that reduce the need for dialysis or a kidney transplant. (Image: Wikimedia Commons)
Nephrotic syndrome is one of the worst diseases a child can have. It strikes the filtering units of the kidney, structures known as glomeruli. There’s no good treatment: Steroids are the main therapy used, but 20 percent of cases are steroid-resistant. In the syndrome’s most severe form, focal segmental glomerulosclerosis (FSGS), children are forced onto chronic dialysis and often require a kidney transplant—often only to have their disease recur in the new organ.
New methods can find mutations that strike just 1 in 10 cells in a sample.
It’s become clear that our DNA is far from identical from cell to cell and that disease-causing mutations can happen in some of our cells and not others, arising at some point after we’re conceived. These so-called somatic mutations—affecting just a percentage of cells—are subtle and easy to overlook, even with next-generation genomic sequencing. And they could be more important in neurologic and psychiatric disorders than we thought.
“There are two kinds of somatic mutations that get missed,” says Christopher Walsh, MD, PhD, chief of Genetics and Genomics at Boston Children’s Hospital. “One is mutations that are limited to specific tissues: If we do a blood test, but the mutation is only in the brain, we won’t find it. Other mutations may be in all tissues but in only a fraction of the cells—a mosaic pattern. These could be detectable through a blood test in the clinic but aren’t common enough to be easily detectable.”
That’s where deep sequencing comes in. Reporting last month in The New England Journal of Medicine, Walsh and postdoctoral fellow Saumya Jamuar, MD, used the technique in 158 patients with brain malformations of unknown genetic cause, some from Walsh’s clinic, who had symptoms such as seizures, intellectual disability and speech and language impairments. Full story »
Healing from nerve injuries gets slower as we age--here's why.
About six weeks ago, a glass shattered in my hand, severing the nerve in my pinky finger. The feeling in my fingertip still hasn’t returned, and now I know why: I’m too old.
Going back to World War II, it’s been speculated that recovery of peripheral nerve injuries—like those in limbs and extremities—is influenced by age. And studies indicate that peripheral neuropathy is common in people over 65, including those who have received cancer chemotherapy, and often unexplained.
“When you’re very young, the system is very plastic and able to regenerate,” Michio Painter told me recently. He is a graduate student in the laboratory of Clifford Woolf, PhD, director of the F.M. Kirby Neurobiology Center at Boston Children’s Hospital. “After that, there’s a gradual decline. By the age of 30, much of this plasticity is gone.”
Traditionally, this decline has been thought to reflect age-related differences in neurons’ ability to regrow, but when Painter studied neurons in a dish, he couldn’t confirm this. Full story »