Breakthroughs in molecular genetics frequently depend as much upon the discovery of large families or patients with rare diseases than upon the scientific ingenuity of the investigators. In the first months of the Molecular Ophthalmology Lab's existence, it became evident that ten times the number of family members could be examined if one traveled to the family's hometown instead of waiting for them to come to the University. However, for the examinations to be valuable, stereo retinal photography, electrophysiology, and other specialized testing had to be able to be conducted in the field environment. The investigators therefore assembled a flexible mobile clinic capable of performing every ophthalmic test routinely performed at the University. This clinic has been able to study huge families, as many as one hundred and fifty individuals per trip, in cities as far as one thousand miles from Iowa City.
Medical student Chris Scott interviews a patient in Osage, Iowa.
Although the initial impetus to create the mobile unit was to increase our ability to study these families, it soon became apparent that we could improve our care of the patients in this setting as well. The rare disease under study could be explained to the family as a group and questions and concerns addressed as the family was being studied.
Drs. Stone and Kimura arrive in Isom, Kentucky after two days of driving a van loaded with clinical equipment.
As molecular tests for rare diseases such as retinitis pigmentosa and Leber's hereditary optic neuropathy were developed, the investigators also realized that these tests could be performed on small amounts of blood gathered anywhere in the world and mailed to the laboratory. By offering these tests to clinicians throughout the world, the investigators have been able to increase their research access to valuable families while providing valuable diagnostic service for them in return.
The laboratory has received samples from physicians and scientists throughout the United States as well as 15 foreign countries.
In 1993, the Roy J. Carver Charitable Trust recognized the power of this approach, and began providing significant support for this diagnostic effort as well as additional support for the development of new genetic technology. With these funds the investigators have been able to provide diagnostic service at no charge to patients throughout the United States and fifteen foreign countries.
