human development
Happy New Year: Looking Back at 2016 Research Highlights
Posted on by Dr. Francis Collins
Happy New Year! While everyone was busy getting ready for the holidays, the journal Science announced its annual compendium of scientific Breakthroughs of the Year. If you missed it, the winner for 2016 was the detection of gravitational waves—tiny ripples in the fabric of spacetime created by the collision of two black holes 1.3 billion years ago! It’s an incredible discovery, and one that Albert Einstein predicted a century ago.
Among the nine other advances that made the first cut for Breakthrough of the Year, several involved the biomedical sciences. As I’ve done in previous years (here and here), I’ll kick off this New Year by taking a quick look of some of the breakthroughs that directly involved NIH support:
Scoliosis Traced to Problems in Spinal Fluid Flow
Posted on by Dr. Francis Collins
Caption: Normal zebrafish (top left) and a normal skeleton (bottom left); zebrafish with scoliosis (top right) and an abnormal scoliotic skeleton (bottom right).
Credit: Grimes DT, Boswell CW, Morante NF, Henkelman RM.
Many of us may remember undergoing a simple screening test in school to look for abnormal curvatures of the spine. The condition known as adolescent idiopathic scoliosis (IS) affects 3 percent of children, typically showing up in the tween or early teen years when kids are growing rapidly. While scoliosis can occur due to physical defects in bones or muscles, more often the C- or S-shaped spinal curves develop for unknown reasons. Because the basic biological mechanisms of IS have been poorly understood, treatment to prevent further progression and potentially painful disfigurement has been limited to restrictive braces or corrective surgery.
Now, in work involving zebrafish models of IS, a team of NIH-funded researchers and their colleagues report a surprising discovery that suggests it may be possible to develop more precisely targeted therapeutics to reduce or even prevent scoliosis. The team’s experiments have, for the first time, shown that mutation of a gene associated with spinal curvature in both zebrafish and humans has its effect by altering the function of the tiny hair-like projections, known as cilia, that line the spinal cord. Without the cilia’s normal, beating movements, the fluid that bathes the brain and spinal cord doesn’t flow properly, and zebrafish develop abnormal spinal curves that look much like those seen in kids with scoliosis. However, when the researchers used genetic engineering to correct such mutations and thereby restore normal cilia function and flow of cerebral spinal fluid (CSF), the zebrafish did not develop spinal curvature.
Creative Minds: A Baby’s Eye View of Language Development
Posted on by Dr. Francis Collins
If you are a fan of wildlife shows, you’ve probably seen those tiny video cameras rigged to animals in the wild that provide a sneak peek into their secret domains. But not all research cams are mounted on creatures with fur, feathers, or fins. One of NIH’s 2014 Early Independence Award winners has developed a baby-friendly, head-mounted camera system (shown above) that captures the world from an infant’s perspective and explores one of our most human, but still imperfectly understood, traits: language.
Elika Bergelson
Credit: Zachary T. Kern
Elika Bergelson, a young researcher at the University of Rochester in New York, wants to know exactly how and when infants acquire the ability to understand spoken words. Using innovative camera gear and other investigative tools, she hopes to refine current thinking about the natural timeline for language acquisition. Bergelson also hopes her work will pay off in a firmer theoretical foundation to help clinicians assess children with poor verbal skills or with neurodevelopmental conditions that impair information processing, such as autism spectrum disorders.
