An international conference is underway at the University of Virginia. It will draw fewer than 200 people to talk about a very rare disease, but what happens there could prove important to millions of patients.
Medical conferences usually attract researchers and healthcare professionals who share a common vocabulary and a deep understanding of science, but patients – who could benefit from the information – are rarely included. That’s why this year’s Aniridia conference at the University of Virginia is so important. Robert Grainger, a professor of biology at UVA, says half the participants will be laymen – patients and their families – and they won’t be left out of the conversation.
"It’s amazing how much you can understand when you really, really want to. These people really care, and so they do learn. It is hard to explain it, but it isn’t impossible."
The disease they’ll be exploring – aniridia – is genetic, affecting the appearance and function of the eye.
“These people were born without an iris. The gene that’s responsible for this particular defect also is responsible for every part of the eye, and many if not most of them are legally blind by the time they reach adulthood.”
But Grainger says gene and stem cell therapies offer the promise of preventing blindness and restoring vision in the future. Research may also teach us about obesity, a problem often linked to aniridia.
“Patients who have aniridia tend to have a much higher body mass index. This gene, called PAX-6 ,not only participates in eye formation, but it’s essential for pancreas formation and certain kinds of gut cells in your intestine.”
Recalling last year’s conference, Grainger adds that having patients and their families on hand provides real inspiration for scientists.
“The kids they were walking in the aisle as I was giving my talk – I just can’t tell you what an effect that had on me and on other people.”
UVA has also promoted its partnership with patients by providing a home for the patient support group called the Aniridia Foundation.