NIH-Funded Research Makes Science’s “Top 10” List

NIH-funded AAAS/Science Editors' Choice for 2014 Breakthroughs of the YearModeled after Time’s Person of the Year, the journal Science has a tradition of honoring the year’s most groundbreaking research advances. For 2014, the European Space Agency nabbed first place with the Rosetta spacecraft’s amazing landing on a comet. But biomedical science also was well represented on the “Top 10” list—with NIH helping to support at least four of the advances. So, while I’ve highlighted some of these in the past, I can’t think of a better way for the NIH Director to ring in the New Year than to take a brief look back at these remarkable achievements!

Youth serum for real? Spanish explorer Ponce de Leon may have never discovered the Fountain of Youth, but researchers have engineered an exciting new lead. Researchers fused the circulatory systems of young and old mice to create a shared blood supply. In the old mice, the young blood triggered new muscle and more neural connections, and follow-up studies revealed that their memory formation improved. The researchers discovered that a gene called Creb prompts the rejuvenation. Block the protein produced by Creb, and the young blood loses its anti-aging magic [1]. Another team discovered that a factor called GDF11 increased the number of neural stem cells and stimulated the growth of new blood vessels in the brains of older animals [2].

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Neuroscience: The Power of Curiosity to Inspire Learning

Snowflakes activating the brainWhen our curiosity is piqued, learning can be a snap and recalling the new information comes effortlessly. But when it comes to things we don’t care about—the recipe to that “delicious” holiday fruitcake or, if we’re not really into football, the results of this year’s San Diego County Credit Union Poinsettia Bowl—the new information rarely sticks.

To probe why this might be so, neuroscientists Charan Ranganath and Matthias Gruber, and psychologist Bernard Gelman, all at the University of California at Davis, devised a multi-step experiment to explore which regions of the brain are activated when we are curious, and how curiosity enhances our ability to learn and remember.

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Snapshots of Life: Lost Connections in Pompe Disease

Junctions between motor neurons (green) and muscle fibers (red)

Caption: Abnormal connections between leg muscle fibers (red) and nerves (green) in Pompe disease.
Credit: Darin J. Falk, A. Gary Todd, Robin Yoon, and Barry J. Byrne, University of Florida, Gainesville

Mistletoe? Holly? Not exactly. This seemingly festive image is a micrograph of nerve cells (green) and nerve-muscle junctions (red) in a mouse model of Pompe disease. Such images are helping researchers learn more about this rare form of muscular dystrophy, providing valuable clues in the ongoing search for better treatments and cures.

People with Pompe disease lack an enzyme that cells depend on to break down a stored sugar, known as glycogen, into smaller glucose molecules that can be readily used for energy. Without enough of this enzyme, called acid alpha-glucosidase (GAA), glycogen can accumulate destructively in the liver, heart, and skeletal muscles, making it increasingly difficult to walk, eat, and even breathe.

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Genome Sequencing: Exploring the Diagnostic Promise

Hanners Family

Caption: Whole genome sequencing revealed that sisters Addison and Trinity Hanners, ages 7 and 10, shown here with their mother Hanna, have a rare syndrome caused by a mutation in the MAGEL2 gene.
Credit: Courtesy of the Hanners family

At the time that we completed a draft of the 3 billion letters of the human genome about a decade ago, it would have cost about $100 million to sequence a second human genome. Today, thanks to advances in DNA sequencing technology, it will soon be possible to sequence your genome or mine for  $1,000 or less. All of this progress has made genome sequencing a far more realistic clinical option to consider for people, especially children, who suffer from baffling disorders that can’t be precisely diagnosed by other medical tests.

While researchers are still in the process of evaluating genome sequencing for routine clinical use, and data analysis continues to be a major challenge, one area of considerable promise centers on neurodevelopmental disorders. Such disorders—which affect about 3 percent of children—range from relatively common conditions like autism spectrum disorder to very rare conditions that impair the development of the brain or central nervous system. In the latest study, an NIH-funded research team reports that sequencing either a patient’s whole genome or whole exome (the 1.5 percent of the genome that encodes proteins) appears to be an effective—as well as a cost-effective—strategy for diagnosing neurodevelopmental disorders that have eluded diagnosis through standard means.

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Cool Videos: Know When to Fold Them

Hi-C Video Screenshot

As most of you probably know, the human genome—our genetic instruction book—contains about 3 billion base pairs of DNA. But here’s a less well-known fact: if you would take the DNA from the nucleus of just one human cell and stretch it end-to-end, it would measure about 6 1/2 feet. How can a molecule of that length be packed into a cell nucleus that measures less than .00024 of an inch? Well, this fun video, which accompanies exciting new findings published in the journal Cell, serves to answer that fundamental question.

I’m proud to say that NIH helped to support the highly creative team of researchers that, over the course of the past five years, have mapped with unprecedented detail and precision how the human genome folds inside the cell’s nucleus. Among the many things they’ve learned is that, in much the same way that origami artists can craft a vast array of paper creatures using two simple folds, the genome is able to work its biological magic with just a few basic folds—including the all-important 3D loop

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