Aniridia, an uncommon but serious congenital eye disorder that causes both blindness and metabolic disorders, including severe obesity, is the focus of an unusual scientific and medical conference at the University of Virginia July 31 to Aug. 4.
About 40 leading researchers and clinicians will participate. They will be joined by approximately 75 aniridia patients, most of whom will provide blood samples for study as they also learn about advances in the study and treatment of the disease.
The keynote speakers are leading geneticist Veronica van Heyningen of the University of Edinburgh and geneticist and physician Dr. Tom Glaser of the University of California, Davis.
“Studies are under way at the University to learn more about this unusual disease, and the Medical Center is a leading treatment center,” he said. “The U.Va. Department of Ophthalmology also is the headquarters for Aniridia Foundation International, a support group for aniridia patients. That organization is directed by Jill Nerby, an aniridic who lives in Charlottesville. These connections serve as a magnet for bringing top researchers, clinicians and patients together to discuss and learn from this disease.”
The word “aniridia” means “lack of an iris.” People with this genetic disease are born without irises and generally are legally blind at birth, and experience worsening vision as they age. The syndrome is passed down through successive generations as a dominant gene trait and every person with the syndrome has a 50 percent chance of producing a child with aniridia with each pregnancy.
“The gene involved, Pax6, is essential for eye formation, but also is essential for pancreas formation and function and elsewhere in the digestive system,” said Grainger, who studies eye development on a genus of frog called Xenopus that shares numerous genetic traits with the human eye. “Aniridia patients suffer from serious metabolic disorders, including a strong tendency to become obese as they age.”
He said studies are under way at U.Va. in developmental biology, ophthalmology and endocrinology to learn more about the connections of these afflictions to Pax6.
Grainger said the conference is unique in that patients will be in attendance as physicians and researchers share their growing knowledge about the disease.
“It is very motivating and moving to have the patients in the auditorium with their family members – to see children playing in the aisles, knowing that our research ultimately will have a direct effect on their quality of life,” Grainger said. “The conference brings the patients center stage, so to speak, and gives the meeting a special feeling.
“And the patients are there because they want to know about the latest clinical and research data that may involve better treatments of their disease.”
Grainger noted that new understanding of genomics and ever-improving genetics techniques make clearer the connection between basic research and clinical treatments for an array of diseases.
He said there is a “conversation,” in essence, between animals used in genetics research, such as frogs and mice, and researchers and human patients.
“We learn from humans about their problems with a disease, such as sleep problems, and then we study the genes of an animal, such as Xenopus, to account for this, and then we carry what we learn back to the human patients through new therapies,” he said. “I believe this represents a new kind of science because of the two-way interaction between basic and clinical work.”
“This is a powerful approach, closely connecting researchers and clinicians,” said Dr. Peter Netland, who chairs U.Va.’s ophthalmology department and organized the conference with Grainger and Nerby. “It has a direct affect on patients, leading to better eye care. And having the patients be part of the conference allows them to be engaged in the research and how it affects their own lives and care. They are able to engage and provide blood samples and know that that leads to scientific knowledge.”
Grainger and Netland pointed out that while aniridia is only one specific disease, occurring in about 1 in 40,000 births, its studies have broad implications. Pax6 is one of the most studied genes in developmental biology, underlying eye formation in all animals.
Because aniridia patients suffer from common eye deficits, such as glaucoma and retinal degeneration, they themselves serve as an important resource for understanding these serious problems. As a genetically obese population, they also offer researchers an opportunity to better understand the genetics of obesity.
The conference will serve as a starting point for developing a larger congenital eye disorder program at U.Va. The goal would be to develop research and clinical resources, including the collection and dissemination of DNA samples, clinical information and treatment options, as well as providing researchers access to patients looking to participate in research studies and clinical trials. The center also would be useful for training medical students and for the advanced training of residents.
Undergraduate and graduate students also are helping organize the conference.
“Students love this sort of endeavor where they can see how their education connects both to basic science and clinical research and treatment,” Grainger said. “This element will be built into any future congenital eye disorder program.”
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