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Rare Disease Mystery: Nodding Syndrome May Be Linked to Parasitic Worm

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Rural Uganda village gathering

Caption: Village in the East Africa nation of Uganda
Credit: Centers for Disease Control and Prevention

In the early 1960s, reports began to surface that some children living in remote villages in East Africa were suffering mysterious episodes of “head nodding.” The condition, now named nodding syndrome, is recognized as a rare and devastating form of epilepsy. There were hints that the syndrome might be caused by a parasitic worm called Onchocerca volvulus, which is transmitted through the bites of blackflies. But no one had been able to tie the parasitic infection directly to the nodding heads.

Now, NIH researchers and their international colleagues think they’ve found the missing link. The human immune system turns out to be a central player. After analyzing blood and cerebrospinal fluid of kids with nodding syndrome, they detected a particular antibody at unusually high levels [1]. Further studies suggest the immune system ramps up production of that antibody to fight off the parasite. The trouble is those antibodies also react against a protein in healthy brain tissue, apparently leading to progressive cognitive dysfunction, neurological deterioration, head nodding, and potentially life-threatening seizures.

The findings, published in Science Translational Medicine, have important implications for the treatment and prevention of not only nodding syndrome, but perhaps other autoimmune-related forms of epilepsy. As people in the United States and around the globe today observe the 10th anniversary of international Rare Disease Day, this work provides yet another example of how rare disease research can shed light on more common diseases and fundamental aspects of human biology.


Nanoparticles Target Damaged Blood Vessels

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Microscopic view of damaged vs. undamaged lamina

Caption: [A] Elastin stain (black) showing damaged elastic lamina in aorta. Inset (higher magnification) shows fluorescent nanoparticles attached to aorta where elastin is damaged. [B] Elastin stain showing aorta with undamaged elastic lamina. Inset shows no nanoparticle attachment. L stands for lumen, the open area inside the aorta.
Credit: Naren Vyavahare, Clemson University

Cardiovascular disease (CVD) is the number one killer of Americans. There are, in fact, many types of CVD—but common to most of them is damaged blood vessels. Stents can be inserted to prop open collapsed or narrowed arteries, and deliver drugs inside vessels. But, so far, we haven’t been able to repair the damaged vessels themselves. Researchers in an NIH-funded team of bioengineers at Clemson University, in South Carolina, are among those who believe that delivering drugs directly to the site of damage to mend the vessel might boost our ability to treat CVDs. And they’ve devised a way to deliver such drugs right where they want them: using specially-crafted nanoparticles.


Taking a Snapshot of the Human Immune System

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There are numerous tests to gauge the health of your heart. But no such widely accepted test exists for the many parts of the immune system. How can we tell if the immune system is strong or weak? Or quantify how badly it’s malfunctioning when we suffer from asthma, allergies, or arthritis?

A team led by scientists at Stanford University has taken the first steps toward creating such a test—by taking “snapshots” of the immune system.

Before we talk about what they did, let me review how the immune system protects us against disease. The innate immune system is like a standing army that defends us against invading microbes. But the innate system has no memory. It doesn’t recognize the invaders more quickly if they return. This is the job of the adaptive immune system—B and T cells. These cells not only remember invaders; they’re able to adapt their weapons—antibodies and T-cell receptors—to make them more effective. Think of them as the Special Forces.


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