Author: Nancy Fliesler

News notes: Headlines in science & innovation

An occasional roundup of news items Vector finds interesting.

Blood-brain barrier on chip

vector news - blood brain barrier chip
(Wyss Institute at Harvard University)

The blood-brain barrier protects the brain against potentially damaging molecules, but its gate-keeping can also prevent helpful drugs from getting into the central nervous system. Reporting in PLoS One, a team at the Wyss Institute for Biologically Inspired Engineering describes a 3-D blood-brain barrier on a chip — a hollow blood vessel lined with living human endothelial cells and surrounded by a collagen matrix bearing human pericytes and astrocytes.

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Could Burmese pythons shed light on diabetes?

Burmese pythons diabetes

Originally from Southeast Asia, Burmese pythons are perhaps best known in the U.S. for the havoc they’ve been creating in the Everglades. Kept as pets and released into the wild, they can grow to nearly 20 feet long, and are hunting animals like marsh rabbits toward extinction (a problem Florida is trying to address with an annual Python Removal Competition).

But in the lab, at a diminutive 3 feet in length, Burmese pythons may hold valuable lessons about diabetes.

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Age-related macular disease: Is energy starvation a cause?

age-related macular degneration
Hunger distress signal: Energy-starved photoreceptor cones in the retina (colored blue) call for nourishment by releasing a cloud of vascular endothelial growth factor (VEGF; in yellow). The VEGF draws poor-quality, leakage-prone blood vessels (in red), branching from a nearby blood supply. (Image: Jean-Sebastien Joyal)

New insights could potentially change the treatment of two diseases causing blindness: “Wet” age-related macular degeneration (AMD), the leading cause of severe vision loss in Americans over 60, and a less common condition called macular telangiectasia (MacTel) that occurs in middle age.

Both diseases are caused by abnormal growth of misshapen, leaky blood vessels in the eye that damages the macula, the central part of the retina needed to for straight-ahead vision.

The trigger for this pathologic process had been widely thought to be oxygen deprivation. However, findings published today by Nature Medicine suggest another cause: dysfunctional energy metabolism in the eye that starves the retina’s photoreceptors of fuel.

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Making rare operations common through special effects simulation

What if I told you that there was a new technology that improved outcomes for patients of all ages, reduced pain and suffering, reduced time in the operating room, reduced anesthetic times and, the more you did it, the better it benefited patients. And here’s the kicker — it has no side effects. And it’s available everywhere care is delivered.”

That’s what critical care physician Peter Weinstock, MD, PhD, described at his recent TEDx talk in the Boston suburb of Natick.

Weinstock is director of Boston Children’s Hospital’s Simulator Program, SIMPeds. The technology is ultra-high-fidelity medical simulation coupled with a simple concept: practicing before game time.

I mean really practicing.

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20-week treatment makes life safer for kids with peanut allergy

peanut allergy

A study last week in The New England Journal of Medicine suggests that exposing infants to peanuts can provide lasting protection against peanut allergy. But what about peanut-allergic children right now? They and their parents live a life of precautions — from pre-screening birthday party menus to segregation at the school lunch table — to avoid life-threatening consumption of even trace amounts of peanut.

Now, a multicenter study reports on a protocol combining the allergy medication omalizumab (Xolair) with controlled, gradually increasing peanut consumption. After 20 weeks, most initially allergic children could safely consume the equivalent of 8 to 10 peanuts at a time. Three months after stopping the medication, most had worked up to 16 to 20 peanuts.

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Ten child health innovations headed to SXSWi

Impact Pediatric Health child health innovation
(U.S. Army/Lori Yerden via Flickr)

Innovation in pediatrics is alive and well. On March 14, at the South by Southwest Interactive (SXSWi) festival in Austin, Tex., Impact Pediatric Health will run its second annual pitch competition for digital health and medical device startups. Based on the ten child health innovations to be pitched, it promises to be as inspiring as last year’s event.

Judges include representatives from the four founding hospitals — Boston Children’s Hospital, Cincinnati Children’s Hospital, Texas Children’s Hospital and Children’s Hospital of Philadelphia — and from Sesame Workshop, whose recently announced Sesame Ventures plans to support companies that “help kids grow smarter, stronger and kinder.”

John Brownstein, PhD, chief innovation officer at Boston Children’s and one of the judges on the panel, agrees with that mission. “When it comes to innovation, pediatrics is often a second thought or gets left out altogether,” he says. “I’m extremely impressed with the landscape this year and the breadth of startup ideas.”

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Creating a blueprint for rare disease medicine

blueprint for rare disease medicinePresident Obama’s Precision Medicine Initiative, first laid out in his 2015 State of Union Address, aims to develop individualized care that empowers patients and takes into account genetic, environmental and lifestyle differences. Obama is asking Congress for $309 million for the initiative next year.

One big component is the Department of Veteran Affairs’ Million Veteran Program, which has signed up more than 450,000 veterans to date and is now open to active-duty military personnel. Another is NIH support for cancer trials that match treatments with patients’ genomic profiles.

Parent/citizen scientist Matt Might has in mind another group: patients with undiagnosed genetic disorders. In searching for a diagnosis for his son Bertrand, Might came up with a precision medicine algorithm that outlines step by step what a patient and family can do — from genomic sequencing to finding similar patients to working with biomedical researchers to find therapeutic strategies. It’s an impressively comprehensive blueprint for citizen science.

As Might detailed today at a White House summit on the Precision Medicine Initiative, he now has worms at the University of Utah modeling his son’s disease, whose symptoms include seizures, extreme developmental delay and an inability to make tears. He also has a molecular target and a list of 70 compounds that hit it, including 14 that are already approved by the FDA.

Can Might’s vision be scaled and made part of routine medical care, keeping the patient front and center?

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Nephrotic syndrome: Unexpected insights from genomic sequencing

nephrotic syndrome - SNRS -a glomerulus
Magnified views of a glomerulus from a rat kidney. (Source for all images: Braun DA; et al. Nat Genet 2015 doi:10.1038/ng.3512)

About 1 in 5 cases of the kidney-destroying condition nephrotic syndrome don’t respond to steroid treatment. They are a leading cause of end-stage kidney failure in children and young adults, who are quickly forced to go on dialysis or wait for a kidney transplant.

Thanks in large part to the lab of Friedhelm Hildebrandt, MD, chief of the Division of Nephrology at Boston Children’s Hospital, more is becoming known about this severe condition. Mutations in more than 30 genes have been implicated, all causing dysfunction of glomeruli, the kidney’s filtering units, specifically in cells known as podocytes. Test panels are now clinically available. Yet, in 70 percent of patients, the causative gene is still unknown.

A new study by Hildebrandt and colleagues in this week’s Nature Genetics pinpoints three new, completely unexpected genes, revealing the power of whole-genome sequencing and potentially opening a new treatment route for at least some steroid-resistant cases.

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Science seen: Mapping touch perception in cerebral palsy

sensory brain mapping in cerebral palsy

Cerebral palsy (CP) is the most common motor disability of childhood. The brain injury causing CP disrupts touch perception, a key component of motor function. In this brain image from a child with CP (click to enlarge), the blue lines show nerve fibers going to the sensory cortex. The colored cubes at the top represent the parts of the sensory cortex receiving touch signals from the thumb (red cube), middle finger (blue) and little finger (green). An injury in the right side of the brain (dark area) has reduced the number of nerve fibers on that side, reducing touch sensation in the left hand and resulting in weakness.

Christos Papadelis, PhD, of Boston Children’s Hospital’s Division of Newborn Medicine hopes to use such sensory mapping information to develop better rehabilitation therapies. P. Ellen Grant, MD, director of the Fetal-Neonatal Neuroimaging and Developmental Science Center, Brian Snyder, MD, of the Cerebral Palsy Program and research assistant Madelyn Rubenstein are part of the team.

 

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CDKL5: Understanding rare epilepsies, patient by patient, neuron by neuron

CDKL5 epilepsy
Haley with her parents and neurologist Heather Olson (right)

Nine-year-old Haley Hilt has had intractable seizures all her life. Though she cannot speak, she communicates volumes with her eyes. Using a tablet she controls with her gaze, she can tell her parents when her head hurts and has shown that she knows her letters, numbers and shapes.

Haley is one of a growing group of children who are advancing the science around CDKL5 epilepsy, Haley’s newly recognized genetic disorder. When Boston Children’s Hospital geneticist Joan Stoler, MD, diagnosed Haley in 2009, there were perhaps 100 cases known in the world; today, there are estimated to be a few thousand. Haley’s neurologist, Heather Olson, MD, leads a CDKL5 Center of Excellence at the hospital that is bringing the condition into better view.

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