What we’ve been reading: Week of April 20, 2015

(Stougard/Wikimedia Commons)
(Stougard/Wikimedia Commons)

Chinese team reports gene-editing human embryos (MIT Technology Review)

Using the CRISPR technique, the researchers attempted to correct the gene for thalassemia in fertilized eggs. The experiment showed that the technique is far from ready from clinical use, and added new fuel to the already-fiery debate over editing genes in human embryos.

How Apple is building an ecosystem for your body (Fast Company)

The company’s HealthKit and ResearchKit together may form the core of a new “digital ecosystem” for health data and digital medicine, just as iTunes did for music and movies. But a lot of unanswered questions remain that could affect Apple’s chances for success in the health arena.

US societies push back against NIH reproducibility guidelines (Nature News)

No one is arguing that measures to improve reproducibility are bad, but many question the NIH’s “one-size-fits-all” approach.

Genetic testing for breast cancer gets more affordable (The Verge)

The effects of the Supreme Court’s 2013 decision overturning Myriad Genetics’ BRCA gene testing patents are starting to creep into the market, as a new competitor starts offering cheaper tests. More challengers are likely to arise in the not-too-distant future.

FDA, industry scrambling to clarify or design new regs covering lab-developed tests (FierceDiagnostics)

The FDA released draft regulatory guidance about lab-developed tests last year. Some diagnostics companies are happy, others less so, but all of them are itching for the agency to clarify unanswered questions—such as, what role will CMS play?—and issue finalized rules.

JAMA, BMJ each call for more health app evidence (MobiHealthNews)

There are thousands of general wellness and disease-specific health apps in Apple and Google’s app stores, but little evidence for saying which are good and which aren’t worth it. JAMA asks whose job it is to curate apps, while a BMJ article asks whether anyone needs wellness apps anyway.

Thousands may have been shorted on insurance subsidies after calculation error (Kaiser Health News)

For months, a glitch in how Healthcare.gov calculates family income may have left thousands without the subsidies or Medicare coverage they were entitled to. The fed has finally admitted to the mistake, but has yet to say how they’ll fix it.

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Protecting the brain in newborn bloodstream infections

NICU%20baby-Shutterstock-cropped

Preterm infants in neonatal intensive care units, particularly those with catheters and intravenous lines, are at high risk for bacteremia—bloodstream infections that can cause lasting brain injury. A new study may change how people think about these infections, suggesting that inflammation is as important to address as the infection itself.

Using a novel mouse model of bloodstream infections in newborns, infectious disease physician-researcher Ofer Levy, MD, PhD, demonstrates that bacteremia can damage the brain even when the bacteria don’t actually get into the central nervous system. Findings were published online last week in the Journal of Infectious Diseases.

“There has been a lot of indirect epidemiologic evidence for a link between bacteremia, inflammation and cerebral injury, but it showed only a correlation, not causation,” says Levy. “Here we demonstrate directly in an animal model that inflammation alone can cause brain injury in newborns with bacteremia, even without entry of the bacteria to the central nervous system.”

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Early neglect and deprivation change the body’s stress response systems

Photo: Angela Catlin/Wikimedia Commons
Photo: Angela Catlin/Wikimedia Commons

Severe social and emotional deprivation in early life is written into our biochemical stress responses. That’s the latest learning from the long-running Bucharest Early Intervention Project (BEIP), which began in 2000 and has been tracking severely neglected Romanian children in orphanages. Some of these children were randomly picked to be placed with carefully screened foster care families, and they’ve been compared with those left behind ever since.

While studies in rodents have linked early-life adversity with hyper-reactivity of the sympathetic nervous system and the hypothalamicpituitaryadrenal (HPA) axis, the relationship has been harder to pin down in humans. BEIP’s study, involving almost 140 children around the age of 12, had children perform potentially stressful tasks, including delivering a speech before teachers, receiving social feedback from other children and playing a computer game that malfunctioned partway through.

Unlike the rodents, the institutionalized children had blunted responses in the sympathetic nervous system, which is associated with the “fight or flight” response, and in the HPA axis, which regulates production of the stress hormone cortisol. The researchers note that this dulled physiologic response has been linked to health problems, including chronic fatigue, pain syndrome and auto-immune conditions, as well as aggression and behavioral problems.

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Pediatric innovators showcase highlights inventions

Innovators Showcase Boston Children's HospitalSome great inventions were on view this week at the second annual Boston Children’s Hospital Innovators Showcase. Hosted by the hospital’s Innovation Acceleration Program and Technology & Innovation Development Office, the event featured everything from virtual reality goggles with gesture control to biomedical technologies. Below are a few new projects that caught Vector’s eye (expect to hear more about them in the coming months), a kid-friendly interview about the SimLab and list of inventions kids themselves would like to see. (Photos by Katherine Cohen except as noted)

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What we’ve been reading: Week of April 13, 2015

reading april 2

Can a smart vest help people who are deaf “hear” speech? (The Atlantic)
Inventor and neuroscientist David Eagleman has created a vest that transmits spoken words into vibrations in a vest that can be felt and translated- or effectively “heard”- by the wearer.

Electrified: Adventures in transcranial direct current stimulation (The New Yorker)
Neuroscientists at the University of New Mexico have developed a brain stimulation therapy they believe may have a whole host of benefits, from chronic pain relief to improved memory function. Our own Alexander Rotenberg, MD, PhD, weighed in on this technique’s potential applications in pediatrics in a Vector post last summer.

The problem with satisfied patients (The Atlantic)
When patient satisfaction surveys are directly tied to federal funding, hospital administrators put extra effort into making patients happy. But does happier always mean healthier?

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BabySee: Mobile app lets you see through an infant’s eyes

David Hunter, MD, PhD, chief of Ophthalmology at Boston Children’s Hospital, gets a lot of questions from parents, but the number one question is: “What can my baby see?”

That depends. How old is the baby?

Five days after birth, she might see something like the image at left; at 3 months, the image at right:

BabySee 5 days and 3 mos

At 6 months and 9 months, there’s increasing color and resolution:

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Advances in SCID (“bubble boy” disease): A Q&A with a child hematologist/oncologist

David Williams, Luigi Notarangelo and Sun-Yung PaiSung-Yun Pai, MD, a pediatric hematologist/oncologist at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, was lead author on two recent articles on severe combined immune deficiency (SCID) in The New England Journal of Medicine. The first reviewed outcomes after bone marrow transplantation; the second reported the first results of a new international gene therapy trial for X-linked SCID. Here, she discusses what’s known to date about these therapies.

Q: What is SCID?

A: SCID is a group of disorders that compromise the blood’s T cells, a key component of the immune system that helps the body fight common viral infections, other opportunistic infections and fungal infections. T-cells are also important for the development of antibody responses to bacteria and other microorganisms. A baby born with SCID appears healthy at birth, but once the maternal antibodies that the baby is born with start to wane, the infant is at risk for life-threatening infections. Unless diagnosed and treated—with a stem cell transplant from a healthy donor or a more experimental therapy like gene therapy—babies with SCID typically die before their first birthday.

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On the clock: Circadian genes may regulate brain plasticity

brain circadian rhythmsIt’s long been known that a master clock in the hypothalamus, deep in the center of our brain, governs our bodily functions on a 24-hour cycle. It keeps time through the oscillatory activity of timekeeper molecules, much of which is controlled by a gene fittingly named Clock.

It’s also been known that the timekeeper molecules and their regulators live outside this master clock, but what exactly they do there remains mysterious. A new study reveals one surprising function: they appear to regulate the timing of brain plasticity—the ability of the brain to learn from and change in response to experiences.

“We found that a cell-intrinsic Clock may control the normal trajectory of brain development,” says Takao Hensch, PhD, a professor in the Departments of Molecular and Cellular Biology and Neurology at Harvard University and a member of the F.M. Kirby Neurobiology Center at Boston Children’s Hospital.

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What we’ve been reading: Week of April 6, 2015

What we've been readingExome sequencing comes to the clinic (JAMA)
An approachable and thorough summary of the growing trend, describing the ways in which sequencing can help provide a diagnosis, the diagnostic yield (as high as 40 percent or more, depending on the population), how often the results have changed treatment decisions and the question of who pays.

Who Owns CRISPR? (The Scientist)
Excellent coverage of the escalating patent scramble for genome editing.

Doctors Make House Calls On Tablets Carried By Houston Firefighters (NPR)
Interesting use of telemedicine in Houston, where many people call 911 in non-emergency situations. EMTs carry tablets, and can have callers chat with a physician on a video app, avoiding the need to take them to the ED.

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First six months of life are best for stimulating child heart growth

heart-regeneration-study2
In these sample sections of mouse heart, the color blue signifies scar tissue. Damage from scarring was minimized by early administration of the drug neuregulin.

Developing a child-centric approach to treating heart failure is no easy task. For one thing, the underlying causes of decreased cardiac function in children vastly differ from those in adults. While most adults with heart failure have suffered a heart attack, heart failure in children is more likely the result of congenital heart disease (CHD), or a structural defect present at birth that impairs heart function. And most therapies designed for adults haven’t proven equally effective in children.

Stimulating heart muscle cells to regenerate is one way cardiac researchers at Boston Children’s Hospital’s Translational Research Center hope to restore function to children’s ailing hearts. In this area, children actually have an advantage over adults: their young heart cells are better suited for regrowth.

Reporting in the April 1 Science Translational Medicine, Brian Polizzotti, PhD, and Bernhard Kuhn, MD, demonstrate that not only does the drug neuregulin trigger heart cell regeneration and improve overall heart function in newborn mice, but its effects are most potent for humans within the first six months of life.

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