Translational Research and Vision
Francis Collins, M.D., Ph.D.
Transcript of Videotaped Message
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Friday, June 25, 2010
National Institutes of Health - Bethesda Campus
Francis Collins, M.D., Ph.D
Director, National Institutes of Health
Good morning! Welcome to the final event in a series of NEI 40th anniversary symposia. These symposia have highlighted the advances and the collaborative nature of biomedical research. Their success has been ensured by the participation of outstanding clinicians and scientists from diverse disciplines – including human genetics, neuroscience, and stem cell biology. Today, you will hear another excellent set of talks – talks that are certain to inspire lively discussion about a central topic of 21st century biomedicine, and a central priority to me as a scientist and as NIH director: translational research. As you know, “translational research” is literally that: translating amazing discoveries in fundamental research into clinical benefits for patients. And, while it’s fairly straight-forward in definition, in practice, translational research abounds with all the complexities one would expect of an endeavor whose aim is no less than improving the health of some enormously complex organisms -- ourselves.
Of course, that’s the mission of the National Institutes of Health. The NIH was founded to support scientific research of the highest quality – research that would expand our knowledge of living systems in ways that would in turn allow us to improve health. We have enjoyed remarkable success in our ongoing effort to fulfill this mission. Life expectancy is up; disability rates are down. And the foundation of that success has been, and no doubt will continue to be, the creative insights and innovative ideas of individual investigators who serve as leaders in scientific discovery.
Vision scientists have already made remarkable advances in translational research. When I am giving presentations that highlight some of the most exciting developments in translation, I often refer to advances in vision research. For example, the very first success of applying large scale genome wide association studies to uncover hereditary factors in a common disease was for an eye disorder. The discovery that variants in complement factor h contribute to the development of age-related macular degeneration is a watershed event in medical history. And NEI has continued to build on this success. NEI has taken the initiative to lead an international consortium for the meta-analysis of numerous genome-wide association studies, in an effort to discover all genes that contribute to AMD susceptibility.
Vision researchers have also taken a particular gene discovery from the laboratory to a successful clinical trial: gene therapy for a hereditary eye disease called Leber congenital amaurosis. I used that dramatic example in my recent congressional testimony, and you’ll hear about the latest findings of this study today. The encouraging results provide strong “proof-of-concept” that could help usher several other gene-based therapies into clinical trials – not only for retinal diseases, but also for many other rare and neglected diseases.
In a unique inter-agency collaboration, NEI and NASA scientists have developed a new diagnostic technology that identifies people at risk for cataract development – before they show symptoms. The device uses dynamic light scattering technology to measure the amount of alpha-crystallin protein in the lens. This tool, which is currently in clinical trials, is based on basic research information about alpha-crystallin’s role in cataract development. With this tool, clinicians may soon be able to monitor lens health – and study ways to prevent the onset of cataract formation or treat cataracts to eliminate cataract-induced blindness.
In science today, investigators are increasingly working in teams. This cooperative strategy is accelerated by interdisciplinary approaches and empowered by open access to tools, databases, and technologies. Effective team research requires a careful balance between investigator-initiated projects and large-scale community resource programs. It rests on the effective identification of particularly promising scientific research areas. In this spirit, NEI has established the NEI human genetics collaboration, or “neighbor.” This consortium of clinicians and geneticists at 12 institutions throughout the United States is currently combining data from more than 4,000 individuals. These collaborative efforts will help identify genetic variants associated with glaucoma – with the ultimate goal of developing more effective treatments for this blinding eye disease.
Clearly, biomedical research has made great strides in advancing our knowledge of how vision works, and in translating that knowledge into improved eye health. NEI has been central to these advances. Alfred, Lord Tennyson, once wrote:
"When I dipt into the future far as human eye could see; Saw the vision of the world and all the wonder that would be."
NEI, your vision has allowed us all to see farther, and to see better. It has even improved the future we envision. Congratulations on a remarkably fruitful first 40 years! But we know the best is yet to come.