We all hope for health care in the genomic era to become as easy and personal as a smartphone app. And perhaps at some point it will be. At some medical centers, electronic health records already include a list of patients’ genetic variations that might trigger harmful drug reactions and send ‘pop-up’ alerts to warn the physician or pharmacist. This is just the tip of the iceberg, but it’s a harbinger of things to come. Our big challenge is to translate all the new discoveries and data from the genome project into a format that physicians and other health care providers can use to improve health.
To bridge that transition from discovery to diagnostics and treatments, the NIH launched the Genetic Testing Registry (GTR) last year. There are hundreds of genetic testing companies, thousands of genetic tests for thousands of diseases, and some diseases have more than 20 names. What a challenge for providers to sort through! GTR is becoming a central repository of all the genetic tests available, and therefore greatly simplifies this search. It’s a vital resource, as providers can’t be expected to know all the diseases and genes or to keep tabs on the growing number of tests. Continue reading “An Evolving App for Genetic Tests” »
April 25 is a very special day. In 2003, Congress declared April 25th DNA Day to mark the date that James Watson and Francis Crick published their seminal one-page paper in Nature[1] describing the helical structure of DNA. That was 60 years ago. In that single page, they revealed how organisms elegantly store biological information and pass it from generation to generation; they discovered the molecular basis of evolution; and they effectively launched the era of modern biology.
But that’s not all that’s special about this date. It was ten years ago this month that we celebrated the completion of all of the original goals of the Human Genome Project (HGP), which produced a reference sequence of the 3 billion DNA letters that make up the instruction book for building and maintaining a human being. The $3 billion, 13-year project involved more than 2,000 scientists from six countries. As the scientist tasked with leading that effort, I remain immensely proud of the team. They worked tirelessly and creatively to do something once thought impossible, never worrying about who got the credit, and giving all of the data away immediately so that anyone who had a good idea about how to use it for human benefit could proceed immediately. Biology will never be the same. Medical research will never be the same. Continue reading “DNA’s Double Anniversary” »
In Fall 2012 a new coronavirus appeared on the global public health radar. The virus has caused 17 cases of severe respiratory disease in the Middle East and Europe, and 11 of these people died. This new virus attracted immediate attention because of the high fatality rate—and because it was in the same family as the virus that caused the global outbreak of severe acute respiratory syndrome (SARS) in 2003, which sickened more than 8,000 people. Continue reading “Promising Treatment for New Human Coronavirus” »
I’d like to tell you about a rare genetic disease that’s very close to my heart: Hutchinson-Gilford progeria syndrome, also called progeria. Though you may not recognize the name, you may well have seen pictures of children with this fatal premature aging disease. By 18-24 months, apparently healthy babies stop growing and begin to lose their hair. They develop wrinkled skin and joint problems and they suffer many other conditions of old age. Though their mental development is entirely normal, they often die of heart disease or stroke by age 12 or 13.
A decade ago, my research lab helped discover the cause of progeria: a mutation in the lamin-A gene [1]. Just a single letter substitution in the genetic code (C to T) creates a toxic version of the protein. The abnormal protein is missing a segment, and is no longer digestible by an enzyme called ZMPSTE24—essentially a molecular scissors. Without that final snip, the lamin-A protein causes molecular havoc. Continue reading “Close-up of Enzyme Linked to Rapid Aging Disease” »
Caption: Optogenetic stimulation using laser pulses lights up the prelimbic cortex Source: Courtesy of Billy Chen and Antonello Bonci
Wow—there is a lot of exciting brain research in progress, and this week is no exception. A team here at NIH, collaborating with scientists at the University of California in San Francisco, delivered harmless pulses of laser light to the brains of cocaine-addicted rats, blocking their desire for the narcotic.
If that sounds a bit way out, I can assure you the approach is based on some very solid evidence suggesting that people—and rats—are more vulnerable to addiction when a region of their brain in the prefrontal cortex isn’t functioning properly. Brain imaging studies show that rat and human addicts have less activity in the region compared with healthy individuals; and chronic cocaine use makes the problem of low activity even worse. The prefrontal cortex is critical for decision-making, impulse control, and behavior; it helps you weigh the negative consequences of drug use. Continue reading “Shining a Bright Light on Cocaine Addiction” »
Francis S. Collins, M.D., Ph.D., was officially sworn in on Monday, August 17, 2009 as the 16th director of the National Institutes of Health (NIH). Dr. Collins was nominated by President Barack Obama on July 8, and was unanimously confirmed by the U.S. Senate on August 7.
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