Author: Sarah Lewin

From discovery to trial: A drug that may correct ‘lazy eye’

amblyopia

Laboratory discoveries that increase our knowledge of how the body works occur all the time. But it’s another matter to turn this knowledge into a treatment.

“The process of translating basic science research into a clinical trial is often stalled,” says Boston Children’s Hospital ophthalmologist Carolyn Wu, MD.

Wu is one of the exceptions. Along with Ophthalmologist-in-Chief David Hunter, MD, PhD, and neurobiologist Takao Hensch, PhD, she is in the midst of a clinical trial testing whether a drug—one used for Alzheimer’s disease—can restore vision in patients with amblyopia, also known as “lazy eye.”

Amblyopia occurs when vision fails to develop properly because the brain isn’t processing the input from one eye very well. When a child is young enough, amblyopia can often be cured by blocking the better eye with a patch or blurring it with eye drops, forcing the brain to use the weaker eye. However, this treatment doesn’t work for older patients whose brains are no longer as good at forming new connections, and the weak eye can permanently lose vision.

The trial grew out of Hensch’s work studying amblyopia in mice

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Strengthening newborns’ immune systems: A secret in the plasma

Blood cells
The immunosuppressant effect in newborns' blood comes not from blood cells themselves, but from the plasma that surrounds them (smaller.pathological.ca/Flickr)
There’s something different about newborns’ blood. In babies less than 28 days of age, the immune system still hibernates—making newborns more susceptible to life-threatening infections and less responsive to many vaccines. Ofer Levy, MD, PhD, and his colleagues at Boston Children’s Hospital have done extensive work toward understanding the newborn immune system, and now they’ve uncovered a mechanism to help explain why the system is so weak—and how it might be strengthened.

“If we can understand the molecular mechanisms causing the immune system to be different when we’re very young or very old, we can leverage that knowledge to develop new treatments,” says Levy.

Stages for invention: Health devices and more from the next generation

Woman assembles Solarclave
Researcher Anna Young of MIT's Little Devices Lab works on a solar-powered autoclave for sterilizing medical instruments
(Image: Jose Gomez-Marquez)

“It’s a robot…it brings the remote.”

A kid in a striped shirt who looks to be going into the second or third grade reluctantly explains his cardboard and foam creation, a boxy figure with four wheels and a grabbing arm. He’s taken his invention from paper design through model through an imagined cover of TIME magazine, joined by countless other children who have designed everything from rockets to surprisingly detailed wind turbines.

I’m at the MIT Museum, and today it is overrun with inventors. Upstairs, younger visitors are invited to invent and model their own creations—like the remote-getting robot—and downstairs people gather to see presentations and prototypes by students working in MIT labs. This event is Insight into Innovation, the mad invention of the museum’s summer interns, and it’s a natural fit for MIT’s Little Devices Lab, a medical research group with a do-it-yourself twist whose offices are right above the museum. Three groups from that lab are exhibiting.

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Finding the best stem cell for the job

Although stem cells have the potential to differentiate into any type, they often prefer a particular route (Flickr/Jonathan Billinger)
Although stem cells have the potential to differentiate into any type, they often prefer a particular route. Could scientists take advantage of that? (Flickr/Jonathan Billinger)
Some people are born football players, others are made for basketball: Yi Zhang, PhD, reaches often for this metaphor as he explains his research with stem cell differentiation, recently published in Stem Cell Reports.

Stem cells are well-known for their ability to differentiate, or transform, into different types of cells. Two types of stem cells—embryonic stem cells and induced pluripotent stem cells—are able to ultimately change into any human cell. But that doesn’t mean all stem cells in these groups are equal: They have certain molecular features that bias them toward transforming into particular cell types. The ability to predict a stem cell’s differentiation bias would enable scientists to select a specific embryonic or induced pluripotent cell line to create cells for different applications—like grooming some youth athletes for football, others for basketball.

Zhang’s lab has identified a gene that acts as a powerful biomarker—physical or chemical characteristic whose appearance heralds a particular process—predicting a pluripotent stem cell’s tendency to differentiate into endoderm, cells on the inner layer of an embryo that become lung, digestive tract, pancreas and liver cells. It could be the first of a family of genetic biomarkers that guide scientists trying to create different cells and tissues for regenerative medicine.

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Decoding kidney disease, one gene at a time

blood samples chronic kidney disease
More than a third of chronic kidney diseases are caused by single mutations on single genes (Image: Graham Colm)

Part 2 of a two-part series on kidney disease. Part 1 is here.

Friedhelm Hildebrandt, MD, receives around one blood sample in the mail per day from a patient with chronic kidney disease. Over 10 years, he’s collected more than 5,000 samples from patients all over the world—in hopes of finding the genetic mutations that cause them and, ultimately, new treatments.

Consider the mutation in an 8-month-old boy from Turkey, who had fluid collection under his skin and elevated protein in his urine—signs that his kidneys were failing. Doctors identified his disease as a form of nephrotic syndrome, one of the three main types of chronic kidney disease. The disease was proving to be hard to treat: Ten weeks of steroids had produced no result, and an immunosuppressant hadn’t been effective enough to justify its harsh side effects.

Only within the last year, genetic research has revealed that more than 30 percent of childhood chronic kidney diseases—like this child’s—stem from single mutations in single genes.

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A mutation and a mystery: Weight gain without a change in energy use

Why did the mouse at left gain so much weight?

Two mice scurry around in an enclosure crossed through with light beams. The beams track their movement to measure their energy expenditure, along with the amount of oxygen they breathe in and carbon dioxide they exhale. The mice, who are siblings, are equally active and are held to the same diet, but there’s one critical difference: One mouse is noticeably heavier than the other.

“These [heavier] mice aren’t burning the fat,” says Joseph Majzoub, MD, chief of endocrinology at Boston Children’s Hospital. “They’re somehow holding onto it.”

In fact, the mice have to be underfed by 10 to 15 percent just to stay as slim as their siblings. Their experiences seem to parallel those of people who complain of gaining weight even when they don’t eat more than others. When allowed to eat as much as they want, the mice quickly begin to eat three to four times as much as the others and balloon to more than twice their size.

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