This retinal scan of a uveitis patient demonstrates retinal thickening (red) involving the central retina resulting in compromising vision. University of Iowa researchers recently recently used proteomics (protein profiling) to devise a successful treatment strategy for a patient with uveitis, a disease which can have many causes, making it particularly difficult to diagnose and treat effectively. Credit: Vinit Mahajan, University of Iowa Health Care
Protein analysis can make diagnoses more accurate and treatments better targeted to individual patients. Researchers have used personalized proteomics to devise a successful treatment for a patient with uveitis, a potentially blinding eye disease that can have many causes, making it particularly difficult to diagnose and treat effectively.
Proteomics is the large-scale analysis of all the proteins in a cell type, tissue type, or organism. In contrast to genomics, which shows how genetic differences can indicate a person’s potential for developing a disease over a lifetime, proteomics takes a real-time snapshot of a patient’s protein profile during the disease. Doctors can use this information to tailor diagnosis and initiate treatment, sometimes long before a conventional diagnosis even begins to home in on a cause. “Proteomics allows us to create a precision molecular diagnosis that’s totally personalized for the patient,” says Vinit Mahajan, M.D., Ph.D., UI clinical assistant professor of ophthalmology and visual sciences.
A patient had been losing vision in one eye because of relapsing inflammation and swelling in the retina, with a buildup of scar tissue. The cause was unknown, so the treatment had consisted of a trial-and-error approach based on a clinical observation of the symptoms. “Right now, there is no precision medicine for this kind of disease,” Mahajan says.
They performed a proteomic analysis of fluid taken from the patient’s eye and compared that protein profile to profiles of other patients’ eye fluid. Gabriel Velez spotted a pattern that closely resembled those of two other patients who were known to have an autoimmune disorder that produces antibodies against the retina.
“Her symptoms didn’t look exactly like the standard clinical diagnosis for that disease,” says Nathaniel Roybal, M.D., Ph.D. “She was missing many features. But based on this pattern that we saw, we ordered a lab test to check if she makes anti-retinal antibodies. And sure enough, the test showed that she did. So we changed how we treated her. Mahajan performed surgery and implanted a device that continuously releases a steroid into the eye. The patient’s vision improved, and she no longer has relapses.
“We are using this platform to address other kinds of eye and inflammatory diseases where the best diagnosis and therapies for individual patients remain inadequate,” Bassuk says.
While proteomics is being studied elsewhere, primarily for diagnostics, Mahajan says the UI implementation is unique because it uses a “whole-patient” approach that coordinates the collection, transport, storage, coding, and analysis of samples in a way that can directly and efficiently improve patient care.
“We were able to combine surgery and science and intelligently go back to the patient to decide on the optimal therapy,” Mahajan says. “This is personalized precision medicine. It’s the next step.”
http://www.eurekalert.org/pub_releases/2016-02/uoih-pap020516.php
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