From the category archives:

Diagnostics

From a series on researchers and innovators at Boston Children’s Hospital.

David Hunter, MD, PhD

Happy to fix things, Hunter realigns a strike plate on a balcony door. (Photo: Constance West, MD)

David G. Hunter, MD, PhD, dreamed of a career as a rock star. Instead, he became Boston Children’s Hospital’s ophthalmologist-in-chief and invented the Pediatric Vision Scanner. The device, designed for use by pediatricians, detects amblyopia or “lazy eye,” the leading cause of vision loss in children, as early as preschool age when the condition is highly correctable. Full story »

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Naomi Fried, PhD, is Chief Innovation Officer at Boston Children’s Hospital.

Return on innovation ROI

When people hear about ROI, they often think of financial returns and “return on investment.” But, in my world, ROI is actually “return on innovation.” While the return on innovation can be financial, it can also take many other forms. Here are my top five. Full story »

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As Epilepsy Awareness month closes out and we embark upon the holiday season, we’re pleased to see an innovation initiated here at Boston Children’s Hospital move toward commercial development. This wearable device for patients with epilepsy, called Embrace, is like a “smoke alarm” for unwitnessed seizures that may potentially prevent tragic cases of sudden, unexpected death from epilepsy (SUDEP) in the future.

The Bluetooth-enabled, sensor-loaded wristband, using technology developed and tested in collaboration with 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 »

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Jack Andraka Pediatric Innovation Summit

Jack Andraka holding his pancreatic cancer detection strip

Boston Children’s Global Pediatric Innovation Summit + Awards (October 30-31) drew innovators, thought leaders and researchers from around the globe.

And one guest speaker who’s still in high school.

Teen science prodigy Jack Andraka, 17, addressed more than 300 summit attendees and shared his journey from Baltimore, Maryland high school freshman to developer of an early diagnostic test for pancreatic, ovarian and lung cancers. And he achieved this extraordinary task before getting his driver’s license.

After the loss of a close family friend to pancreatic cancer in 2010, Andraka, then 13, sought answers. Full story »

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Global Pediatric Innovation Summit Awards big dataWhere is the next generation of therapeutic innovations going to come from? Population-level genomic studies? The fitness trackers on everyone’s wrist? Mining electronic medical records? People’s tweets, Yelps and Facebook posts?

How about all of the above?

What all of these things have in common is data. Lots of it. Some of it represents kinds of data that didn’t exist 5 or 10 years ago, but all of it is slowly beginning to fuel the pharma sector’s efforts to create the next blockbuster drug or targeted therapeutic.

At least, it should be. Full story »

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neurobehavioral mouse assays

(gegenart/Shutterstock)

A mouse surrounded by computer screens turns its head when it notices lines moving across one of them, as a camera captures this evidence of visual acuity. A chamber similarly equipped with video cameras tests social interaction between mice. A small swimming pool, with shapes on its walls as navigational cues, lets scientists gauge a mouse’s spatial memory. A pint-sized treadmill, with a tiny camera to watch foot placement, measures gait.

Here in the Neurobehavioral Developmental Core at Boston Children’s Hospital, managed by Nick Andrews, PhD, the well-tended mice also have opportunities to play: “If you have a happy mouse,” says Andrews, “researchers get better, more consistent results.” Full story »

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dialysis nephrotic syndrome

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.

Until recently, no one knew what caused nephrotic syndrome; the first causative gene was identified just a dozen years ago. The lab of Friedhelm Hildebrandt, MD, PhD, at Boston Children’s Hospital is one of a handful that’s been chipping away at the others.

Hildebrandt receives, on average, one blood sample a day from patients all over the world. Full story »

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brain malformations sequencing mosaicism

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 »

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sensory processing autism

A mouse study explores how sound and touch information come together in the autistic brain (Image courtesy Nadine Gogolla)

Families of children with autism spectrum disorder have long noted sensory processing difficulties such as heightened sensitivity to noise, touch or smell—or even specific foods or clothing textures—earning sensory processing a place in the official DSM-5 description of the disorder.

“A high proportion of kids with autism spectrum disorder will have difficulty tolerating certain kinds of sensory inputs,” says Carolyn Bridgemohan, MD, co-director of the Autism Spectrum Center at Boston Children’s Hospital. Others, she adds, are less sensitive to certain stimuli, showing a higher tolerance for pain or excessively hot or cold temperatures.

A study published last week in Neuron uses mouse models to shed new light on the brain mechanisms that underlie sensory processing abnormalities in autism. Full story »

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Urine Vascular Biology Program netrin brain tumor biomarker Edward Smith Michael Klagsbrun

A good biomarker is one whose levels go up or down as a patient’s disease worsens or wanes. A great biomarker also gives key insights into disease development. A really great biomarker does both of these things and also serves as a treatment target.

With a protein called netrin-1, Edward Smith, MD, and Michael Klagsbrun, PhD, seem to have hit the trifecta. In a recent paper in Cancer Research, they report a clear relationship between urine netrin levels and medulloblastoma, the most common malignant brain tumor of children.

And show that netrin fuels the tumor’s invasion into healthy brain tissue.

And that blocking netrin may, at least in the laboratory, check the tumor’s spread. Full story »

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