Caption: MinION sequencing device plugged into a laptop/Oxford Nanopore Technologies
It’s hard to believe, but it’s been almost 15 years since we successfully completed the Human Genome Project, ahead of schedule and under budget. I was proud to stand with my international colleagues in a celebration at the Library of Congress on April 14, 2003 (which happens to be my birthday), to announce that we had stitched together the very first reference sequence of the human genome at a total cost of about $400 million. As remarkable as that achievement was, it was just the beginning of our ongoing effort to understand the human genome, and to use that understanding to improve human health.
That first reference human genome was sequenced using automated machines that were the size of small phone booths. Since then, breathtaking progress has been made in developing innovative technologies that have made DNA sequencing far easier, faster, and more affordable. Now, a report in Nature Biotechnology highlights the latest advance: the sequencing and assembly of a human genome using a pocket-sized device . It was generated using several “nanopore” devices that can be purchased online with a “starter kit” for just $1,000. In fact, this new genome sequence—completed in a matter of weeks—includes some notoriously hard-to-sequence stretches of DNA, filling several key gaps in our original reference genome.
Caption: An NCATS researcher dispenses Zika virus into trays for compound screening in a lab using procedures that follow strict biosafety standards. Credit: National Center for Advancing Translational Sciences, NIH
In response to the health threat posed by the recent outbreak of Zika virus in Latin America and its recent spread to Puerto Rico and Florida, researchers have been working at a furious pace to learn more about the mosquito-borne virus. Considerable progress has been made in understanding how Zika might cause babies to be born with unusually small heads and other abnormalities and in developing vaccines that may guard against Zika infection.
Still, there remains an urgent need to find drugs that can be used to treat people already infected with the Zika virus. A team that includes scientists at NIH’s National Center for Advancing Translational Sciences (NCATS) now has some encouraging news on this front. By testing 6,000 FDA-approved drugs and experimental chemical compounds on Zika-infected human cells in the lab, they’ve shown that some existing drugs might be repurposed to fight Zika infection and prevent the virus from harming the developing brain . While additional research is needed, the new findings suggest it may be possible to speed development and approval of new treatments for Zika infection.
Caption: A rapid Ebola detection system consisting of a microfluidic chip (left) and an optofluidic chip (right), connected by a curved tube (center). Credit: Joshua Parks, University of California, Santa Cruz
Many lessons were learned during last year’s devastating outbreak of Ebola virus disease in West Africa. A big one is that field clinics operating in remote settings desperately need a simple, rapid, and accurate test that can tell doctors on the spot—with just a drop of blood—whether or not a person has an active Ebola infection.
A number of point-of-care tests are under development, and it’s exciting to see them moving in the right direction to fill this critical need . As a recent example, a paper published in Nature Scientific Reports by a team of NIH-supported researchers and colleagues shows early success in rapid Ebola detection with an automated lab on a chip . The hybrid system, which combines microfluidics for sample preparation with optofluidics for viral detection, identifies Ebola at concentrations that are typically seen in the bloodstream of an infected person. It also distinguishes between Ebola and the related Marburg and Sudan viruses, suggesting it could be used to detect other infectious diseases.
Caption: Dr. Nancy Sullivan of NIH’s National Institute of Allergy and Infectious Diseases (NIAID) discussing Ebola research with President Barack Obama as NIAID Director Dr. Anthony Fauci and HHS Secretary Sylvia Burwell look on. Credit: NIH
Today, we had the great honor of welcoming President Barack Obama to the campus of the National Institutes of Health (NIH) in Bethesda, MD—to see first-hand the progress that biomedical research is making against Ebola virus disease. The President toured the NIH Vaccine Research Center, and met with scientists who are working hard to develop ways to combat this deadly virus that continues to devastate West Africa. And, in a speech before a packed auditorium at the NIH Clinical Center, the President praised the contributions of NIH staff. He also emphasized the need for emergency Congressional authorization of resources to ensure that our nation’s research and public health efforts against Ebola will lead as quickly as possible to an end to this devastating outbreak.
The President heard about many encouraging advances against Ebola during his visit here, and I’d like to share a couple with you now. I think these examples—one about a vaccine and one about a treatment—speak to the extraordinary ways in which scientists from different fields, disciplines, and organizations are pulling together to tackle this urgent disease threat.