2013 Make A Miracle Conference
Hosted by AFI and University of Virginia
Aniridia Foundation International (AFI) hosted its seventh conference focused on aniridia syndrome on July 31st - August 4th. Thanks to our wonderful speakers and volunteers, this conference was bigger than ever with information about the latest research and medical care. We hope the attending families not only gathered important information, but also created new and lasting friendships with others going through a similar journey with aniridia syndrome.
Throughout the conference, volunteers gathered blood samples and medical background information from attendees to add to the AFI International Medical Registry to create a large database for researchers to use to help find answers to the many genetic and medical issues people with aniridia syndrome endure. A big thank you to all who participated!
The conference also included activities for children and young adults to spend time together and create new friendships with others who have aniridia and have family members with aniridia. The younger children enjoyed crafts and games, while the young adults spent time touring Charlottesville, shopping and eating at local restaurants.
The first day of presentations at the conference focused on low vision, with speakers discussing different areas of daily living, starting with early intervention in schools, through employment strategies and estate planning. Low vision devices, the latest technology aides, and strategies for independent living were covered. In addition, there were two “Aniridia 101” presentations to help families new to the aniridia syndrome community. Dr. Jim Lauderdale presented the basics about the PAX6 gene, and how just slight differences in the gene order can affect development. Dr. Christian Carter explained the parts of the eye and how they are different in people with aniridia. The presentations ended for the day with a movie “Going Blind,” a documentary following people dealing with vision loss and how they cope. This was followed by a panel discussion about different strategies for independent living during changes in vision. In the evening, the attendees met for a cookout to meet new friends and greet old friends. This was a fun casual event, and a time for families to catch up on each others’ lives and accomplishments.
On Thursday, the presentations focused on how aniridia syndrome affects not only the eyes, but the whole body. This exciting work is a new area of thinking for PAX6 researchers and the aniridia community. It was amazing how much the research was revealed in anecdotal evidence of people living with aniridia! Some of the topics covered were sensory issues and sleep issues in children and adults, with an explanation by Dr. Kristen Heinan about how brain development through the PAX6 gene affects these issues. There was also a special look at the possible link of aniridia with autism, with Dr. Lea Davis and her personal story. In the afternoon session, the speakers focused on metabolism and how the PAX6 gene can lead to issues such as diabetes, weight gain, and sleep apnea. To end this session, Barbara Poli, secretary of Aniridia Europe announced their conference in Venice Italy for September 2014.
On Friday, the morning session, moderated by Dr. Peter Netland, was filled with presentations from ophthalmologists from around the world who have a lot of experience in dealing with the complex issues of the aniridic eye. Their knowledge is vital to share with the aniridia community, so people can be advocates for the best medical care possible. These doctors discussed the best treatments for cataracts, corneal pannus, glaucoma, and retinal issues. Dr. Chris Riemann shared his techniques on the best way to combat AFS (Aniridia Fibrosis Syndrome), and Dr. Melinda Duncan shared her research on preliminary findings on the possible causes.
The afternoon focused on genetic research, highlighted by a presentation by Veronica van Heyningen, the geneticist responsible for isolating the PAX6 gene and a long career of research in this area. Then Dr. Robert Grainger moderated several presentations by experts on the PAX6 gene about isolating specific proteins that control specific parts of the eye. Having all these PAX6 researchers from all around the world in one place and the interaction between them was priceless, because of the possibilities of future gene therapies for people living with aniridia and next generations!
In addition to all the presentations, attendees were invited to meet every evening in the hotel lobby in small groups to discuss different topics, such as Boston Kpro vs. KLAL pros and cons. Since it was in a casual setting people were able to share their personal experiences.
Friday evening, AFI hosted a cocktail party to thank the presenters and dedicated AFI members who have been actively involved over many years for their dedication in helping people with aniridia syndrome and supporting AFI. Dr. Peter Netland announced the partnership between AFI and the University of Virginia, and how each organization can build up the other toward better advancements in aniridia syndrome and congenital eye disorders in general. The evening continued with keynote speaker, Dr. Tom Glaser, presenting about retinoid pathway defects in hereditary eye malformations.
One of the reasons AFI conferences are so special is because they bring doctors, researchers, and patients with all their expertise and personal experiences together to share and grow their knowledge about aniridia syndrome. This conference took this idea one step further by inviting families living with aniridia syndrome to the more technical sessions held on Saturday that would normally only be for medical and scientific professionals.
Ophthalmologists shared their latest techniques in patient care, including surgical videos and thoughts on how to deal with the special circumstances of the aniridic eye. Some of the topics covered were the best ways to treat glaucoma by Dr. Peter Netland, surgical approaches in keratopathy by Dr. Juan Alveraz de Toledo, and Boston Kpro: a viable alternative by Dr. John Freeman.
Researchers shared the latest in gene therapies for future possibilities of curing eye malformations. One such therapy called “START” therapy was presented by Dr. Cheryl and Dr. Kevin Gregory-Evans where they presented evidence of improved eye development in mice injected with normal PAX6 cells. Dr. Ruth Ashery-Padan and Dr. Michael Thorner shared their research about PAX6 and issues in the endocrine system. Also, Dr. Michael Menaker and Dr. Joan Han discussed the role of PAX6 in metabolism and sleep cycles.
Even though much of the information was difficult for the layperson to understand, the excitement about how so many people are focused on helping people living with aniridia syndrome was obvious!
The conference culminated with a beautiful gala where all the attendees could come together to celebrate all the advances in medical care and research about aniridia syndrome, and enjoy the new bonds made with friends in the aniridia community. The attendees were treated to a delicious dinner and touching music by two young ladies who have aniridia syndrome, Calliope Kostopoulos and Carrie Carlisle. Jill Nerby honored the Sharon Stewart Trust awards to Dr. Veronica van Heyningen and Dr. Chris Riemann for their years of research and medical advancements for aniridia syndrome. In addition, Jill handed out the 2013 AFI angel awards to researchers, Dr. Robert Grainger and Dr. Jim Lauderdale, and to ophthalmologists, Dr. Peter Netland, Dr. Chris Riemann and Dr. John Freeman, for many years of continued dedication and support of AFI and aniridia syndrome. Jill then dedicated Carrie’s next song “Angels Among Us” to all the physicians and researchers working with AFI, the active AFI members known as the AFI Angels, and our honored guests from Russia, Israel, UK, Egypt, Sweden, Canada, and USA.
Thanks again to all our volunteers who helped make this conference a success. We look forward to seeing you at our next conference in 2015!