Bascom Palmer Eye Institute

The Florida Inherited Eye Disease Project

Critical Need

Despite tremendous scientific progress over the past 15 years, ninety percent of patients diagnosed with an inherited eye disease are told: “There is nothing we can do.” In addition to the human suffering caused by this negative message, the lack of access to experienced clinicians and affordable genetic testing are the major remaining obstacles to the development and implementation of new treatments for inherited eye diseases. The Human Genome Project has identified over 100 genes involved in human eye disease – ranging from those that cause complete blindness at birth to those (like macular degeneration and glaucoma) that harm the vision of senior citizens. But now, up to a decade later, most Americans who are or may be affected by these diseases cannot be tested, even though their symptoms or family histories suggest that they may carry one of these disease genes. Recent research suggests that for some rare disorders, sight restoring gene replacement may soon be possible; and, for more common diseases like as macular degeneration (which affects one-third of the U.S. population over the age of 75) treatments that can delay or prevent the disease will be possible. However, neither of these outcomes can happen unless large pools of patients with disease causing changes in specific genes can be identified.

Vision

Every patient and family in Florida who is affected with an inherited eye disease should have access to three things: a clinician who is knowledgeable about their disease, affordable genetic testing, and affordable genetic counseling. If this can be accomplished, scientists in Florida will be able to play a very prominent role in the development and implementation of effective treatments for these currently untreatable disorders.

A Partnership between Florida and Iowa

For over a decade, the University of Iowa has focused on resolving the legal, technical and financial obstacles to affordable genetic testing for inherited eye diseases, and investigators there have developed a fully scalable, nonprofit laboratory capable of affordable testing (www.carverlab.org). Meanwhile, the Bascom Palmer Eye Institute has focused its energies on novel diagnostic imaging research, and advanced clinical care and teaching. By adding access to low-cost, high-throughput genetic testing from the University of Iowa, Bascom Palmer is now positioned to be a major player in the development of gene-based therapies for inherited eye diseases.

Benefits for Florida, for Iowa, and for Society

Expert clinical care and genetic testing for patients affected with inherited eye diseases will be critical for the next big advance in blindness research: clinical trials for new drug-related and gene-based therapies.
Establishing a world class inherited eye disease clinic at Bascom Palmer Eye Institute and interfacing it with the state-of-the-art molecular laboratory at the University of Iowa will allow Floridians access to the most up to date diagnostic methods and will place Bascom Palmer in the position to be a major contributor to the development and evaluation of gene based therapies.
The John and Marcia Carver Nonprofit Genetic Testing Laboratory at The University of Iowa provides a single definitive resource for fast, accurate, and cost effective genetic testing on a national scale. The growth of this laboratory that will occur as a result of the partnership with Bascom Palmer will in turn enhance the diagnosis and treatment of patients with inherited eye diseases throughout the country.
Utilizing the existing laboratory at the University of Iowa to meet Florida’s need for genetic testing for eye disease will save several million dollars (and several years) when compared with other alternatives – money that can be used to meet other critical medical and social initiatives.

Specific Plan and Goals

Hire additional faculty and staff at the Bascom Palmer Eye Institute, and support the salaries of some faculty and staff who are already there, to allow the Institute to increase its capacity and its efficiency in caring for patients and families affected with inherited eye diseases.
Create a network of Academic Ophthalmologists and other Eye Care Professionals within Florida for the purpose of identifying every Floridian affected with an inherited eye disease during the next five years and offering them nonprofit genetic testing.
For patients with inherited eye disease seen at Bascom Palmer, create a database of clinical information that will allow the faculty of Bascom Palmer to contribute to the evolving understanding of these rare diseases. This database will also help Bascom Palmer’s partners at the University of Iowa to develop more effective genetic tests.
Hire additional faculty and staff at the University of Iowa to allow them to deliver low cost genetic testing to all Floridians who need it as well as to help them meet their goal of developing a “clinically useful” genetic test for every inherited eye disease for which a disease causing gene has been discovered.
Establish and maintain a web-accessible Eye Disease Mutation Database at the University of Iowa that will be used by physicians and vision scientists around the world to help interpret the pathogenic significance of sequence variations that are discovered in eye disease genes.