Skip to main content

technology

Robotic Exoskeleton Could Be Right Step Forward for Kids with Cerebral Palsy

Posted on by Dr. Francis Collins

More than 17 million people around the world are living with cerebral palsy, a movement disorder that occurs when motor areas of a child’s brain do not develop correctly or are damaged early in life. Many of those affected were born extremely prematurely and suffered brain hemorrhages shortly after birth. One of the condition’s most common symptoms is crouch gait, which is an excessive bending of the knees that can make it difficult or even impossible to walk. Now, a new robotic device developed by an NIH research team has the potential to help kids with cerebral palsy walk better.

What’s really cool about the robotic brace, or exoskeleton, which you see demonstrated above, is that it’s equipped with computerized sensors and motors that can detect exactly where a child is in the walking cycle—delivering bursts of support to the knees at just the right time. In fact, in a small study of seven young people with crouch gait, the device enabled six to stand and walk taller in their very first practice session!


Gene Drive Research Takes Aim at Malaria

Posted on by Dr. Francis Collins

Mosquitoes and a Double HelixMalaria has afflicted humans for millennia. Even today, the mosquito-borne, parasitic disease claims more than a half-million lives annually [1]. Now, in a study that has raised both hope and concern, researchers have taken aim at this ancient scourge by using one of modern science’s most powerful new technologies—the CRISPR/Cas9 gene-editing tool—to turn mosquitoes from dangerous malaria vectors into allies against infection [2].

The secret behind this new strategy is the “gene drive,” which involves engineering an organism’s genome in a way that intentionally spreads, or drives, a trait through its population much faster than is possible by normal Mendelian inheritance. The concept of gene drive has been around since the late 1960s [3]; but until the recent arrival of highly precise gene editing tools like CRISPR/Cas9, the approach was largely theoretical. In the new work, researchers inserted into a precise location in the mosquito chromosome, a recombinant DNA segment designed to block transmission of malaria parasites. Importantly, this segment also contained a gene drive designed to ensure the trait was inherited with extreme efficiency. And efficient it was! When the gene-drive engineered mosquitoes were mated with normal mosquitoes in the lab, they passed on the malaria-blocking trait to 99.5 percent of their offspring (as opposed to 50 percent for Mendelian inheritance).


Single-Cell Analysis: Powerful Drops in the Bucket

Posted on by Dr. Francis Collins

If you’re curious what innovations are coming out of the Brain Research through Advancing Innovative Neurotechnologies (BRAIN) Initiative, take a look at this video shot via a microscope. What at first glance looks like water dripping through pipes is actually a cool new technology for swiftly and efficiently analyzing the gene activity of thousands of individual cells. You might have to watch this video several times and use the pause button to catch all of the steps, but it provides a quick overview of how the Drop-seq microfluidic device works.

First, a nanoliter-sized droplet of lysis buffer containing a bead with a barcoded sequencing primer on its surface slides downward through the straight channel at the top of the screen. At the same time, fluid containing individual cells flows through the curved channels on either side of the bead-bearing channel—you can catch a fleeting glimpse of a tiny cell in the left-hand channel about 5 seconds into the video. The two streams (barcoded-bead primers and cells) feed into a single channel where they mix, pass through an oil flow, and get pinched off into oily drops. Most are empty, but some contain a bead or a cell—and a few contain both. At the point where the channel takes a hard left, these drops travel over a series of bumps that cause the cell to rupture and release its messenger RNA—an indicator of what genes are active in the cell. The mRNAs are captured by the primer on the bead from which, after the drops are broken, they can be transcribed, amplified, and sequenced to produce STAMPS (single-cell transcriptomes attached to microparticles). Because each bead contains its own unique barcode that enables swift identification of the transcriptomes of individual cells, this process can be done simultaneously on thousands of cells in a single reaction.


X-Ray Diffraction: Still Beautiful After All These Years

Posted on by Dr. Francis Collins

Image of a grey circle with a white line passing through the center.
X-Ray diffraction image created from a crystal of Bacteriophage HK97.
Source: John Johnson, The Scripps Research Institute

This year marks the 100th anniversary of X-ray diffraction technology. Developed in 1912, this important tool enables researchers to figure out the 3-D structure of a molecule by beaming X-rays, often through its crystallized form. More than 85% of the protein structures we know today have been determined via this method.

For more information about x-ray diffraction, I recommend Structural Biology Fact Sheet and The Structures of Life: X-ray Crystallography.

Image of a circle with purple striations in an X pattern.


Here you see the X-ray diffraction image that James Watson and Francis Crick used to decipher the double helix structure of DNA in 1953.

And now for a trivia question! As some of you may know, one of my hobbies is playing the guitar—a guitar that happens to have a DNA double helix inlaid on its fretboard. All special guitars should have a name.  B.B. King has Lucille. Eric Clapton had Blackie. After which famous scientist, responsible for the image used by Watson and Crick, is my guitar named?

A: ɹosɐlıup Ⅎɹɐuʞlıu


Previous Page