The Aniridia Foundation International (AFI) has been busy helping those with Aniridia Syndrome. Some of our tasks completed or underway thanks to our dedicated volunteers and monthly donors are:
- The AFI awarded another two-year grant to the University of Delaware’s Duncan lab to continue their study on Aniridia Fibrosis Syndrome. The previously funded grant by the AFI discovered some new information to prompt additional research. “Aniridia is a genetic disease where children are born without the iris of their eye, and a retinal defect that reduces their baseline ability to see. However, it is also unfortunately progressive, with patients developing cloudy corneas, glaucoma, retinal detachments, and cataract. While many of these conditions are treatable by surgery, due to genetics, these patients are also very prone to develop aggressive, difficult to treat, ocular scarring which can lead to total blindness or loss of their eye as they age.” The Duncan lab has been working with the AFI to understand the molecular mechanisms underlying this scarring with the goal of identifying new therapies able to maintain patient vision in the long term. Recent gene expression profiling of an animal model of Aniridia Syndrome has revealed a new potential mechanism of fibrotic disease in Aniridia Syndrome that could lead to new therapies. The AFI just funded a new two-year award to Melinda Duncan’s group to validate this molecular mechanism and to explore whether blocking these pathways could help Aniridia Syndrome patients retain their vision long term.
- The AFI has collaborated in co-funding research for many years with Fight for Sight (FFS), a vision research nonprofit, whose mission is to fund scientists early in their careers and to encourage their desire for ophthalmic research. We appreciate the FFS in helping us with expensive Aniridia Syndrome research. Due to this relationship with the FFS, the AFI has a special grant partnership for Aniridia Syndrome research.
- This year we are co-funding two research grants with Fight for Sight. The first co-funded research grant expands on the research for the devastating Aniridia Fibrosis Syndrome (AFS) and the research mentioned above. The second research grant will look at retina and lens issues related to the PAX6 gene, which is often responsible for Aniridia Syndrome. According to the Cvekl lab at the Albert Einstein College of Medicine, their findings of this project will dramatically advance the understanding of genetics and pathogenesis of Aniridia Syndrome to generate novel treatments for Aniridia Syndrome and associated conditions.
The AFI has also been:
- Planning and developing the new electronic version and the actual launch of the new AFI Aniridia Medical Registry in August 2020. Regardless if supporters previously have had a paper version of their Medical Registry file, we are going electronic, and everyone needs to set up their new file. The AFI has been working with a well-known company whose focus is to assist us in developing this registry to collect crucial patient data for researchers to help advance research of Aniridia Syndrome. Their attention to and expertise in HIPPA security for the registry was a mandatory necessity to the AFI when choosing this company to protect our community’s information.
- Working with a team of geneticists, endocrinologists, and PAX6 researchers as there is a genetic aspect to some endocrine issues. The AFI is beginning the collection of specific lab results and experiences of children and adults with Aniridia Syndrome who have OR have not yet been diagnosed with weight, sugar issues/diabetes. A comparison between these two groups can tell us a lot. Due to new information on endocrine issues in those with Aniridia Syndrome, we must first collect this data to set up research studies. Please participate in the AFI Aniridia Medical Registry and its Lab Log and send us the test results – without data to help us understand, we cannot advance our knowledge on this.
- The AFI had their application for a “special session devoted to Aniridia Syndrome” approved for the 2020 Association of Research in Vision and Ophthalmology (ARVO) international conference. Unfortunately, due to the COVID 19 pandemic, the ARVO conference was cancelled. We hope to be given the opportunity at the next ARVO meeting as this “special session” can widely spread awareness, create interest for Aniridia Syndrome research and seek out clinical and basic science researchers for collaborations with Aniridia Foundation International.
Thank you to all our donors, especially our monthly donors. Without your support, we could not help to advance research or help those with Aniridia Syndrome and their families. Also, thank you to those who use Amazon Smile to earn donations for the AFI. So far this year we have earned over $600 just from your everyday shopping on Amazon Smile. To use Amazon Smile just go Smile.Amazon.com or use Amazon Smile in the Amazon App and name Aniridia Foundation International as your charity of choice.
If you are not a monthly donor, please consider becoming one – every little bit helps when everyone participates. Go to weblink.donorperfect.com/AFI_MONTHLY