UF ophthalmologist discusses gene therapy for rare eye diseases at the Vatican

Last month, University of Florida College of Medicine ophthalmologist William W. Hauswirth, Ph.D., presented as part of a moderated panel at the Vatican about the potential for gene therapies to treat rare diseases that cause blindness in children and young adults.

The panel took place on the first day of the Third International Conference on the Progress of Regenerative Medicine and its Cultural Impact, an event created by the Vatican's Pontifical Council for Culture and the Stem for Life Foundation. The aim of the conference is to bring the world’s leading cell therapy scientists, physicians, patients, ethicists and leaders of faith, government and philanthropists to discuss the latest therapeutic breakthroughs and hope for the future, according to the event website.

“Whether immunotherapies for cancer or stem cell treatments for rare diseases, there are now over 30,000 cell therapy trials in development noted on the clinicaltrials.gov website,” said Robin Smith, M.D., president of the Stem for Life Foundation, in a statement. “The Third International Conference on the Progress of Regenerative Medicine and its Cultural Impact will rally the world around a powerful idea ─ that the cells of our bodies hold the potential to vanquish disease, reduce global suffering and inspire hope for people around the world living with illness.”

This year’s conference focused on pediatric cancers and rare genetic diseases, as well as diseases that occur with aging.

Hauswirth, a professor in the department of ophthalmology and Maida and Morris Rybaczki eminent scholar chair in ophthalmic sciences, was invited by Pope Francis’ science advisor Cardinal Bavasi to represent the global effort to treat rare ocular diseases with gene therapy. He discussed the current state of research on gene therapy for rare ocular diseases, including research and clinical trials conducted with colleagues at the university.

“This is a really exciting time for retinal gene therapy,” said Hauswirth. “Having now used retinal gene therapy to cure about 25 different genetic forms of blindness in animal models that have human counterparts has prompted a mini rush in the U.S. and overseas towards multiple human clinical trials for presently incurable forms of human blindness. There is optimism in the field that the vision of many other patients with different gene defects may also benefit in the next few years.

“The conference, a truly special combination of leading scientists, ethicists, philanthropists, health journalists and patient groups all focused on applying promising cell and gene therapies to childhood diseases, was held in a unique and private venue within the Vatican,” Hauswirth said. “The chance to converse informally with the participants between the formal sessions provided me with a much deeper understanding as to the effect our work as basic scientists will soon have on many thousands of young people with rare, presently incurable diseases ”

Hauswirth joined the UF ophthalmology faculty in 1985. He is responsible, in part, for determining the mechanism of replication of adeno-associated virus DNA, the vehicle used to deliver therapeutic genes to cells of the retina, and the discovery of mitochondrial DNA heteroplasmy in mammals, the genetic basis for many forms of human neurological and muscular disease. More recently, he collaborated on the first successful rescue of a dominant genetic disease in animals using ribozyme treatment in a retinitis pigmentosa model in blind rats and the first restoration of vision for a recessive retinal disease in congenitally blind Briard dogs. His current interests involve the delivery and testing of potentially therapeutic genes for retinitis pigmentosa. This work has led to four gene therapy clinical trials for various genetic forms of human blindness with three more on course for initiation soon.

In 2009, Hauswirth’s research showing how gene therapy could cure squirrel monkeys of color blindness — the most common genetic disorder in people — earned recognition as the No. 3 scientific discovery of the year by Time magazine. In 2013, he received the Llura Liggett Gund Award, the highest research honor from the Foundation Fighting Blindness.

Hauswirth is also a scientific founder of AGTC, a biotechnology company conducting human clinical trials of adeno-associated virus-based gene therapies for the treatment of rare diseases. A significant portion of the AGTC’s technology was developed at UF in Hauswirth’s lab. AGTC was located within the Sid Martin Biosciences Institute at the university during its formative years now has facilities in both Alachua and Boston.