Scientists Share LCA Research at Annual Vision and Ophthalmology Conference 

Thousands of scientists gathered in Denver for the annual conference of the Association for Research in Vision and Ophthalmology, known as ARVO, and, in my new role as Outreach & Education Director for Hope in Focus, I’m happy to share details of the event with our Leber congenital amaurosis (LCA) and rare inherited retinal disease (IRD) community. 

The conference’s theme –  Accelerating Discovery through Team Science – clearly manifested itself through the myriad scientists in attendance and working together to make a positive impact on advancing research into treatments and cures for conditions affecting the eye. Organizers said about 6,000 scientists from around the globe attended, representing universities, bio-techs, ophthalmologists, and advocates.

Recognized as one of the top 50 medical meetings by the Healthcare Convention & Exhibitors Association, scientists, researchers, and clinicians packed the four-day conference at the Colorado Convention Center earlier this month. Attendees gathered in ARVO’s lively exhibit hall that featured the latest advances in eye and vision science, treatments, and technology; they collaborated on cutting-edge science, while attendees filtered through hundreds of informational sessions and research presentations. 

We met with our industry partners, such as Applied Genetic Technologies Corporation (AGTC), Janssen Pharmaceuticals, ProQR Therapeutics, and Spark Therapeutics, attended sessions, and introduced ourselves to researchers.

Spark, developer of LUXTURNA®, brought together patient advocacy organizations to discuss genetic testing and how best to promote the importance to doctors and individuals. Along with Hope in Focus, representatives from the Foundation Fighting Blindness, Retina International, Prevent Blindness, and Research to Prevent Blindness attended and discussed the struggles we face with the lack of education around the benefits of genetic testing for patients and how it supports the overall understanding of inherited retinal diseases. 

Researchers presented a large body of work happening in the LCA space, including safety studies for LUXTURNA® related to LCA2 (RPE65), ProQR Therapeutics’ sepofarsen for LCA10 (CEP290), and Editas Medicine’s EDIT-101 for LCA10 (CEP290).

Also, promising research came from the University of Pennsylvania’s large-animal trial in canines for the IQCB1/NPHP5 genetic mutation, the University of Massachusetts’ work on a CEP290 minigene therapy, Variant Bio’s small animal trials for a gene therapy for LCA7 (CRX) being done in France, a study on CRISPR-Cas13 RNA editing for genes too large for adeno-associated virus (AAV) gene therapies such as CEP290, and an engineered transfer RNA approach that may correct multiple mutations. 

Susan Weiss, PhD, gave the opening keynote address. Weiss, Vice-Chair and Professor of the Department of Microbiology at the University of Pennsylvania Perelman School of Medicine, discussing “The History and Biology of Coronaviruses: The Story Behind COVID-19.”

Cynthia A. Toth, MD, the Joseph A.C. Wadsworth Distinguished Professor of Ophthalmology and Biomedical Engineering at Duke University Medical Center, and Joseph A. Izatt, PhD, the Michael J. Fitzpatrick Distinguished Professor of Engineering and Professor of Ophthalmology at Duke University, delivered the closing address with the topic, “Accelerating Ophthalmic Discovery and Technology Translation through Team Science.”