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Mining the Big Data Mountain

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Cartoon of three men mining mountains of data

Credit: Chris Jones, NIH

Biomedical researchers and clinicians are generating an enormous, ever-expanding trove of digital data through DNA sequencing, biomedical imaging, and by replacing a patient’s medical chart with a lifelong electronic medical record. What can be done with all of this “Big Data”?

Besides being handy for patients and doctors, Big Data may provide priceless raw material for the next era of biomedical research. Today, I want to share an example of research that is leveraging the power of Big Data.

Exploring the Complex Genetics of Schizophrenia

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Illustration of a human head showing a brain and DNA

Credit: Jonathan Bailey, National Human Genome Research Institute, NIH

Schizophrenia is one of the most prevalent, tragic, and frustrating of all human illnesses, affecting about 1% of the human population, or 2.4 million Americans [1]. Decades of research have failed to provide a clear cause in most cases, but family clustering has suggested that inheritance must play some role. Over the last five years, multiple research projects known as genome-wide association studies (GWAS) have identified dozens of common variations in the human genome associated with increased risk of schizophrenia [2]. However, the individual effects of these variants are weak, and it’s often not been clear which genes were actually affected by the variations. Now, advances in DNA sequencing technology have made it possible to move beyond these association studies to study the actual DNA sequence of the protein-coding region of the entire genome for thousands of individuals with schizophrenia. Reports just published have revealed a complex constellation of rare mutations that point to specific genes—at least in certain cases.

siRNAs: Small Molecules that Pack a Big Punch

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Photo of parkin protein (green) that tags damaged mitochondria (red)

Caption: NIH scientists used RNA interference to find genes that interact with the parkin protein (green), which tags damaged mitochondria (red). Mutations in the parkin gene are linked to Parkinson’s disease and other mitochondrial disorders.
Credit: Richard J. Youle Laboratory, NINDS, NIH

It would be terrific if we could turn off human genes in the laboratory, one at a time, to figure out their exact functions and learn more about how our health is affected when those functions are disrupted. Today, I’m excited to announce the availability of new data that will empower researchers to do just that on a genome-wide scale. As part of a public-private collaboration between the NIH’s National Center for Advancing Translational Sciences (NCATS) and Life Technologies Corporation, researchers now have access to a wealth of information about small interfering RNAs (siRNAs), which are snippets of ribonucleic acid (RNA) with the power to turn off a gene, or reduce its activity—in much the same way that we use a dimmer switch to modulate a light.

Snapshots of Life: Development on Display

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This image depicts an embryonic Little Skate, Leucoraja erinacea, sitting atop its yolk sac.

Credit: Katherine O’Shaughnessy and Marin J. Cohn, University of Florida, Gainesville

What on earth is this strange-looking critter?  Well, among other things, it’s a scientific super model whose photo shoot landed it among the winners of the Federation of American Societies for Experimental Biology’s 2013 BioArt Competition. Researchers use this stingray-like sea creature, called Leucoraja erinacea or Little Skate, as a model organism for studying development.

This image, taken using a stereomicroscope with transmitted light, shows a 10-week-old Little Skate embryo attached to its nutrient-rich yolk sac. Because the skate can develop normally even when removed from its egg case, it provides an accessible system for exploring how genes direct the formation of internal organs.

The diversity found in the natural world can also reveal unexpected insights into human disease. For example, it turns out that the genes controlling development of the Little Skate’s fins are strongly influenced by male sex hormones. And this is the really surprising part: researchers have discovered that the genes activated in the skate fins are the same genes that respond to hormones in human prostate, breast, and skin cancers. So, by studying these genes in this bizarre-looking denizen of the deep, it’s possible to probe the genes that trigger disease in humans.


BioArt, Federation of American Societies for Experimental Biology

Martin Cohn, Molecular Genetics & Microbiology, University of Florida

BioArt 2013 Exhibit. The public can view an exhibit of the winning art at the NIH Visitor Center. Located in Bethesda, MD, the Center is open from 8:30 a.m.–4:30 p.m. M–F.

NIH support: National Institute of Environmental Health Sciences; National Institute of Diabetes and Digestive and Kidney Diseases

Network News: Gene Discoveries for Autism

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Young boy sitting on the ground staring at his feet


Affecting an estimated 1 in 88 U.S. children, autism spectrum disorder (ASD) is a complicated and diverse group of developmental brain disorders that interfere with language, normal communication, and social interaction. Unlike some other conditions that are caused by mutations in a single gene, as many as 1,000 genes, as well as various environmental factors, are suspected to contribute to the risk of developing ASD. That’s daunting because before we can develop broadly-applicable treatments, we need to figure out which are the key genes, what brain cells they control, and when they are active.

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