2013 Make a Miracle Conference
organized by
AFI – Aniridia Foundation International and University of Virginia
Charlottesville, July 31st-August 4th, 2013
REPORT
From July 31st to August 4th the University of Virginia in Charlottesville hosted the 7th Conference on Aniridia organized by AFI – Aniridia Foundation International.
The five-day event included many social activities and meetings for patients and families, with a special focus on childcare and teen programs, and a considerable number of scientific lectures by 44 presenters (among them, 26 physicians or researchers), as it can be read in the program.
Around 100 patients and relatives and 30 physicians/researchers (not including the 44 presenters) attended the conference; 11 companies participated to the vendor fair.
Aniridia Europe was represented there by its secretary, Barbara Poli, who gave a presentation on AE’s activities and invited the participants to attend the 2nd European Conference on Aniridia next year in Venice, Italy. At the Conference were also present AE’s vice president, Neven Milivojevic, and Galina Gening, president of Aniridia Russia, who contributed in representing European patients’ needs and perspectives.
It is really impossible even to give a short summary of all the lectures and meetings, so we will here simply outline the main results of the conference.
AFI has been promoting research on aniridia for many years, with the overall goal of assisting in the advancement of the understanding and treatment of the disease and of its associated conditions.
As the gene PAX6, whose mutations cause aniridia, is expressed not only in the eye, but also in other organs, there is some evidence that aniridia is not only an eye condition, but a more complex syndrome, even though it is not clear yet how exactly other parts of the body are affected.
During the conference, a full session was devoted to systemic medical conditions.
Some lectures were about the influence of PAX6 on the development of the brain, reporting in a certain number of patients anomalies such as the hypoplasia or absence of the pineal gland (causing sleep problems) or sensory issues, such as higher or lower levels in the modulation of sensory responses to stimuli. Some other lectures investigated the possible connections with metabolism and with a suspected higher risk of developing obesity and diabetes in aniridia patients. Some lectures were devoted to the promotion of healthier lifestyles and better eating habits.
During the clinical sessions, the physicians presented and discussed together the most important issues about therapies and treatments of eye conditions commonly associated to congenital aniridia such as glaucoma, cataract, anomalies of the ocular surface and retinal problems, describing conservative and surgical approaches and defining the possible perspectives for improving patient care. Dr. Alvarez de Toledo, a member of Aniridia Europe’s Scientific Committee, gave a lecture on Surgical approaches in aniridia keratopathy: our experience and future trends.
Dr Peter Netland presented the AFI Medical Registry and University of Virginia Gene Bank, that is collecting data and biological samples from aniridia patients in order to study the disease and its associated or suspected associated conditions.
The research sessions presented many studies on the mechanisms of PAX 6 expression and on the role of other regulatory genes; some lectures reported about animal models used to get a better understanding of these mechanisms and to experiment new approaches towards a possible gene therapy for aniridia.
A very interesting lecture was the one about the START therapy, that is being developed at the University of British Columbia. In the recent years pre-clinical trials on mice were successfully performed and now a multicenter clinical trial on humans is ready to start. The patients will be recruited in Canada, USA and UK among those who carry a PAX 6 nonsense mutation, because the therapy seems to work on this kind of genotype. Next years will tell us how promising this therapy is.
The Gala Dinner on Saturday evening was very intense and emotionally involving: physicians, researchers, students and patients met in the monumental Alumni Hall at the University of Virginia and could exchange experiences and have a good time together. We all participated to the Silent Auction and Raffles to raise funds for AFI.
A very touching moment was when we could listen to two young girls affected by aniridia who transmitted through their voices and their meaningful songs the enormous value of solidarity and engagement to face difficulties together.
The meeting gave also the opportunity to launch again the next conferences on aniridia, in Venice (Italy) in 2014 and in Vancouver in 2015.
Neven Milivojevic
Vice President
Barbara Poli
Secretary