Longtime collaborators in the search for genetic causes of eye diseases, HHMI investigators Edwin M. Stone and Val C. Sheffield at the University of Iowa have recently teamed up to launch The John and Marcia Carver Nonprofit Genetic Testing Laboratory, which seeks to expand the availability and reduce the cost of tests for rare genetic disorders. Though the initial emphasis is on eye disorders, the scientists’ goal is to expand the program to encourage widespread molecular diagnosis for as many genetic disorders as possible. “Testing,” says Stone, “will accelerate progress toward cures of rare diseases.”

The vast majority of people do not seek additional help, he says, when they learn that they or their children have an inherited disease for which testing is not widely available. As a result, most never receive a molecular diagnosis. “No blood sample is drawn, and no data are made available to any researchers,” says Stone. But with increased availability of low-cost genetic testing, molecular diagnoses can become more the norm; and in the Internet age, the rest of the research world can get involved. With permission from patients, the laboratory makes data from the tests, masked to protect the privacy of the patients and their families, available to researchers globally.

Patients can in turn find out about opportunities to participate in research studies and try emerging treatments. “It works in both directions,” says Stone. “Patients and researchers will benefit.”

For more information, go to www.carverlab.org.

—M.W.