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A New Vision for Medical Research
(Part I)
Witness appearing before the
Senate Subcommittee on Labor-HHS-Education Appropriations
Paul A. Sieving, M.D., Ph.D., Director
National Eye Institute
June 22, 2007
On this page:
Mr. Chairman and Members of the Committee:
I am pleased to present the Fiscal Year (FY) 2008 President's budget request for the National Eye Institute (NEI). The FY 2008 budget includes $667,820,000 in the President's request.
As the Director of the NEI, it is my privilege to report on the many research opportunities that exist to reduce the burden of eye disease.
On the genetic side of the equation, NEI-supported investigators have identified common variations in four genes that are associated with AMD and may account for 75 percent of the risk of developing AMD. Two of these genes-complement factor H (CFH) and complement factor B (BF)-contain instructions to encode proteins that help regulate the body's immune defense against microbial infections. This defense, called the complement system, provokes inflammation, a common response to foreign pathogens. It is thought that certain variations in these genes result in sub-optimal control of the complement system and cause chronic inflammation. Chronic inflammation may damage tissues of the retina and could lead to AMD.
Chronic inflammation is thought to play a role in many other common diseases beyond the eye, such as Alzheimer's disease, Parkinson's disease, multiple sclerosis, kidney disease, stroke, and atherosclerosis. Although the cells, tissues, and molecular events in these diseases are diverse, they may share some common disease mechanisms that present an opportunity to cross pollinate findings from diverse research areas.
The genetic discovery of the possible role of inflammation and the immune system in AMD is a watershed moment. We have now uncovered a possible central disease mechanism that may lead to a better understanding of this major disease and the development of therapies that prevent vision loss. We now hold the possibility to learn an individual's risk vulnerability well before the disease is detectable clinically, and to intervene effectively, thereby preempting the disease process at its early stages.
An estimated 8 million older-age Americans are at high risk to develop advanced AMD and vision loss. Of these 8 million, 1.3 million will develop advanced AMD within 5 years. However, now with the successful AREDS treatment, 300,000 of these individuals could be rescued from severe vision loss associated with advanced AMD over a 5-year period. This simple and relatively inexpensive dietary intervention offers to the American public a valuable intervention to prevent severe vision loss and to reduce the need for more aggressive and expensive therapies.
On the heels of this success, the NEI launched AREDS2. One of the primary objectives of AREDS2 is to determine whether oral supplementation with lutein and zeaxanthin and/or omega-3 long-chain polyunsaturated fatty acids will further decrease the progression to advanced AMD or formation of cataract. Previous NIH-funded studies have found high concentrations of these nutrients in the macula of the eye. Moreover, several studies have found an inverse relationship between dietary intake of these compounds and AMD. AREDS2 could result in a more effective but still inexpensive treatment regimen to prevent severe vision loss.
The NEI has begun a program called EYE GENE to address this issue. EYE GENE will provide research diagnostic gene testing for patients. Many eye diseases are considered rare and genetic testing services are not commercially available. The diagnostic information from EYE GENE will directly benefit such patients.
The NEI initiated eyeGENE to address this issue. eyeGene is an organized national network of research laboratories to support genetic testing for individuals with eye diseases. As testing services are not routinely available, the diagnostic information from eyeGENE will directly benefit such patients and families. The initiative will significantly aid vision research through a centralized registry that can be used to locate individuals who may wish to participate in clinical trials for new therapies. eyeGENE fills a critical research need that will advance the field. It includes a secure research blood collection and a centralized research repository of disease phenotype features which coupled to genes that cause disease will allow for the creation of the large datasets necessary to identify novel genetic risk factors and other epidemiologic questions. Programs like eyeGENE will drive genomic research and become the necessary fabric for individuals to benefit from advances in genomic medicine.
PAUL A. SIEVING, M.D., Ph.D.
Director, National Eye Institute, National Institutes of Health, 2001
Member, Institute of Medicine of the National Academies
Education:
Licensure:
Professional Experience:
Medical Internship and Ophthalmology Residency, University of Illinois Hospital, 1978-1982. Postdoctoral Fellowship in Retinal
Physiology, University of California, San Francisco, 1982-1984. Medical Fellowship in Inherited Retinal Degenerations,
Massachusetts Eye and Ear Infirmary, Harvard Medical School, 1984-1985. Faculty, Medical School and Rackham Graduate School,
University of Michigan, 1985- 2001.
Academic Appointments and Experience:
At the University of Michigan: Assistant Professor of Ophthalmology, 1985-1989. Faculty, Rackham Graduate School Programs in
Neuroscience, 1985-2001; Bioengineering Program, 1985-2001. Associate Professor of Ophthalmology, 1989-1994. Founding
Director, Center for Retinal and Macular Degenerations, 1990-2001. Founding Director, Ophthalmic Molecular Diagnostics CLIA
Laboratory, University of Michigan, 1999-2001. Professor of Ophthalmology and Visual Sciences, 1994-2001. The Paul R. Lichter
Professor of Ophthalmic Genetics, 1990-2001. Director, National Eye Institute, NIH, 2001-present.
Professional Organizations:
Association for Research in Vision and Ophthalmology. International Society for Clinical Electrophysiology of Vision. American
Academy of Ophthalmology. American Medical Association. American Ophthalmological Society. Society for
Neuroscience. American Society of Human Genetics. Bressler Vision Award Committee. Champalimaud Foundation Award Committee,
Portugal.
Honors and Awards:
James Scholar Award and Leon F. Moldavsky Physiology Award, University of Illinois Medical School. Fight-for-Sight Research
Award. Career Development Award, National Retinitis Pigmentosa Foundation. Olga Keith Wiess Scholar, Research To Prevent
Blindness. Distinguished Alumnus Award, Valparaiso University. American Ophthalmological Society. The Foundation Fighting
Blindness, Scientific Advisory Board. Senior Scientific Investigator Award, Research to Prevent Blindness. Alcon Award. Doctor
of Science (honorary), Valparaiso University, 2003. The Best Doctors in America. Academia Ophthalmologica
Internationalis, elected 2004. Pisart Vision Award, 2005, Institute of Medicine of the National Academies, elected 2006.
This page was last modified in January 2008