October 2012
Volume 53, Issue 11
Editorial  |   October 2012
NEI Audacious Goals Initiative to Catalyze Innovation
Investigative Ophthalmology & Visual Science October 2012, Vol.53, 7149-7150. doi:https://doi.org/10.1167/iovs.12-11069
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      Paul A. Sieving; NEI Audacious Goals Initiative to Catalyze Innovation. Invest. Ophthalmol. Vis. Sci. 2012;53(11):7149-7150. doi: https://doi.org/10.1167/iovs.12-11069.

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We have just completed an astonishing decade of fundamental and sweeping advances in medicine and biology that are catalyzing a new era of scientific discoveries. These advances have set the stage for remarkable opportunities in basic and in translational science in the decade ahead. Now is the time to give serious thought to what we might accomplish through concerted action and resources. 
The decade started in 2001 with completion of the first human genome sequence 1,2 and culminated with the first ever human therapy trial using embryonic stem (ES) cells in 2012. 3 Fundamental knowledge of biology and medicine advanced across the decade at a rate never before experienced. New tools and techniques allowed us to sift through DNA rapidly and efficiently to probe biological mechanisms of normal cell function and dysfunction from disease. Vision scientists led several of these fundamental advances, and we were also the beneficiaries of this extraordinary outpouring of biological innovation. 
Vision scientists wasted no time employing the new knowledge, tools, and technology. During the decade, hundreds of genes and disease loci were identified for rare ocular and ophthalmic conditions, including optic neuropathy, congenital cataract, corneal dystrophies, impaired ocular motility, and degenerative retinal disease. These disease gene discoveries involved hereditary monogenic Mendelian conditions. 
Then in 2005 vision scientists and clinicians employed the new tools generated by the International HapMap Project and teased out genetic variations that contribute to common but genetically complex diseases. They identified a variant of the complement factor H (CFH) gene that conveys considerable risk of developing age-related macular degeneration (AMD), 46 which is the most common cause of blindness in developed nations. The CFH variant was the first genetic risk factor found for any common complex disease using the new HapMap resource, and rapidly thereafter, more than 1500 genome-wide association studies were published across all of medicine on more than 250 human diseases and traits. 7  
New RNA tools soon shared center stage with DNA. Through the variety of RNA structures and chemical properties, RNA can control a variety of cell functions, and small interfering RNA (siRNA) technologies came to the forefront early in the decade as a way to manipulate gene expression within cells. 810 Vision scientists and clinicians explored using siRNA therapeutically soon thereafter. By the middle of the decade, microRNAs were found to provide synchronous control of entire classes of genes and thereby coordinate developmental stages of organisms. 11 The potential for therapy using microRNAs is being explored for vision disorders. 
Better understanding of vector biology pushed gene therapy from concept to the clinic. The stunning success of the RPE65 human clinical trials for Leber congenital amaurosis in 2008 demonstrated safety and efficacy for gene therapy and partially restored vision to minimally sighted young patients. 1214 Ocular gene therapy trials are under way for Stargardt disease, choroideremia, corneal dystrophies, AMD, and other ocular and vision disorders, and more are in preclinical development. 
The promise of regenerative medicine took a giant step forward in 2006 when Shinya Yamanaka 15 induced adult fibroblast cells to become pluripotent stem cells (iPS) using a cocktail of four transcription factors. A mere 5 years later in 2011, Yoshiki Sasai, 16 a vision scientist, created a three-dimensional optic cup in culture beginning with mouse ES cells. Now studies are under way to replace damaged retinal pigment epithelium (RPE) cells using tissue sheets grown from iPS cells. And in February 2012, we heard the announcement of the first ever human ES cell therapy trial; ES cells were used to generate RPE cells and were transplanted into the subretinal space for AMD and Stargardt macular dystrophy. 3  
The ground-breaking medical advances of this remarkable decade were not limited to biology, as optical engineering led to exquisite refinement of optical coherence tomography (OCT) that has revolutionized our clinical understanding of ocular disease. Tissue imaging at the macro-cellular level in living patients has redefined the pathophysiology of posterior segment diseases of the eye and has led to novel and powerful means to diagnose and monitor disease. Soon, the ability to visualize individual cells in the retina of clinical patients, by incorporating adaptive optics imaging with OCT, will further transform disease monitoring and evaluation of treatment efficacy. 
Many of these advances involved the translational domain, but their underpinnings in basic biology exemplify the seamless fabric of science discovery and innovation. Only by fostering basic research along with innovative translational and clinical research can vision science maintain its current trajectory. 
Revolutionary biology and the medical application for discovery and therapeutics are allowing us to view beyond current boundaries. The ingredients are already here to seed our imaginations on what vision research could accomplish in 10 to 20 years. The opportunities point in many directions. Now is the time for concerted creative thinking about where to apply resources and commitment. 
The National Eye Institute (NEI) is the world's largest vision research organization and has a hand in shaping the national and international vision research agendas. One way NEI uses its standing is by providing robust strategic scientific planning to help guide the extended research community. NEI does not have all the answers, but it is one of only a few organizations with the resources to connect the people who do. 
Since its inception, the NEI has tapped experts every 5 to 7 years in six broad program areas—retinal diseases; corneal diseases; lens and cataract; glaucoma and optic neuropathies; strabismus; amblyopia and visual processing; and low vision and blindness rehabilitation—for assistance to compile a record of recent progress in vision research and to take a new bearing on the next steps for research. The NEI has just published the current report by these experts in August 2012 in the document, Vision Research: Needs, Gaps, and Opportunities (www.nei.nih.gov/strategicplanning). 17 This is a distillation of contributions from more than 300 leaders and scientists in the vision research community. 
Beyond these next steps for research, and driven by the tremendous progress of the past decade and the plethora of opportunities at hand, the NEI is now looking to catalyze innovative thinking about where concerted action could take us, and we are launching the NEI Audacious Goals Initiative. This Initiative is being launched with the support, encouragement, and leadership of the National Advisory Eye Council. 
To set the stage for harvesting a broad set of creative thoughts and ideas for this Initiative, we established a prize competition, the NEI Challenge to Identify Audacious Goals in Vision Research and Blindness Rehabilitation (http://www.nei.nih.gov/challenge). This NEI Challenge will award up to 20 prizes of $3000 each for highly novel and insightful one-page formulations of an audacious goal. 
What is an “audacious” goal? One that, when attained, would fundamentally advance vision research or vision care by identifying and closing critical knowledge gaps, overcoming developmental bottlenecks, finding missing pieces to scientific puzzles, or providing key elements to translate scientific discoveries into clinical applications. 
NEI is looking for bold ideas from vision researchers. But we are not stopping there. We are also going to the greater science community and the public that support the NEI mission. Recognizing that transcendent ideas can come from virtually anywhere, the NEI encourages Audacious Goals submissions from people in the private, government, and nonprofit sectors, including scientists, engineers, health care providers, inventors, and entrepreneurs, as well as the general public. 
Challenge submissions will be evaluated by a group of nominally 40 experts in broad science disciplines by the end of the year. Entries will first be de-identified to provide a level playing field. Award winners will be asked to present their concepts at the NEI Audacious Goals Meeting, February 24 to 26, 2013. The meeting of 200 participants will explore, refine, and expand the concepts to arrive at a small set of audacious goals for vision research. Then, in consultation with its National Advisory Eye Council, NEI will incorporate the audacious goals into a national research agenda that will inform research funding by the NEI and which will also provide material for other public and private research organizations. To learn more, please visit www.nei.nih.gov/AGMeeting/
Our goal is to create a platform for the exchange of novel ideas. We expect the NEI Audacious Goals Initiative will catalyze innovation by energizing the vision research community and fostering collaborative action aimed at reducing the burden of eye diseases and vision disorders worldwide. We need your ideas! 
Lander ES Linton LM Birren B Initial sequencing and analysis of the human genome. Nature . 2001;409:860–921. [CrossRef] [PubMed]
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Bainbridge JW Smith AJ Barker SS Effect of gene therapy on visual function in Leber's congenital amaurosis [published online ahead of print April 10, 2008]. N Engl J Med . 2008;358:2231–2239. [CrossRef] [PubMed]
Hauswirth WW Aleman TS Kaushal S Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial. Hum Gene Ther . 2008;19:979–990. [CrossRef] [PubMed]
Maguire AM Simonelli F Pierce EA Safety and efficacy of gene transfer for Leber's congenital amaurosis. N Engl J Med . 2008;358:2240–2248. [CrossRef] [PubMed]
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Eiraku M Takata N Ishibashi H Self-organizing optic-cup morphogenesis in three-dimensional culture. Nature . 2011;472:51–56. [CrossRef] [PubMed]
Vision Research: Needs, Gaps, and Opportunities. National Eye Institute/National Institutes of Health. August 2012. Available at: http://www.nei.nih.gov/strategicplanning/pdf/VisionResearch2012.pdf . Accessed October 5, 2012.

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