Wills Eye Gene Discovery and Treatment Program

Genetic eye disease is one of the most common causes of blindness in the world. Right now, over 100,000 people in the United States, and one million worldwide, are going blind from retinal dystrophies, genetically caused degenerative disorders of the retina in the eye. Children and adults with no cure, no treatment and, until recently, no hope.

Wills Eye, in partnership with Dr. Edwin Stone, an internationally-recognized physician-scientist at the University of Iowa Institute for Vision Research (UIIVR), is now positioned to change that paradigm. Our experience, access to patients with rare disorders, and the expertise to deliver new treatments puts us in a pivotal position to hasten the pace of treatment development and ultimately cure this form of blindness. Together, this collaboration will put 30 years of research into practice and over the next decade slow or stop the progression of disease in young patients  - and even restore some vision to patients with advanced vision loss caused by retinitis pigmentosa, Stargardt disease, and perhaps even age related macular degeneration.

Identifying the Cause of Retinal Dystrophies

Finding the root cause of a retinal dystrophy requires an intense clinical diagnostic process including patient history, detailed clinical examination by an ocular genetic expert in rare disorders, and an array of clinical diagnostic testing. There are only 20-30 full time ocular geneticists in the United States including Wills Eye Hospital's Chief of Pediatric Ophthalmology and Ocular Genetics, Alex V. Levin, MD. The Wills Eye Hospital clinical team includes a genetic counselor, medical trainees from around the world, a social worker to assist patients with low vision needs, and a clinical coordinator.

Once a clinical diagnosis is made, gene testing establishes the fundamental disease process. In recent years our ability to make a gene-based diagnosis has skyrocketed such that today over 75% of patients will now receive a positive test. While progress in gene identification has been made over the last two decades, our ability to make a gene diagnosis has greatly increased, although approximately 25% of cases remain unsolved.

To interpret and understand testing results requires large populations to allow differentiation of normal variants from true disease causing DNA changes and a comparison of DNA changes with accurate clinical diagnosis and testing. The Wills Eye Ocular Genetics program clinical diagnostic experience and our superior Diagnostic Testing Center, will provide a many fold increase in the volume of data and blood samples for DNA testing to leverage accelerated diagnostics and gene discovery.

Using DNA Diagnosis to Institute Treatment

    The goal is to develop an effective gene therapy for every form of inherited retinal disease. One application for the treatment of the retina in a rare genetic retinal disorder is already pending before the FDA with several more in the pipeline ready to follow shortly for both more common and less common disorders showing the ability to treat any retinal dystrophy regardless of its incidence.
    Adult tissues such as skin can now be used to develop stem cell lines from patients for use in better understanding disease pathogenesis (now) and cell-derived treatment (future). A gene editing method known as CRISPR can be used to correct a patient’s disease-causing mutations in their stem cell lines which is why an accurate molecular diagnosis remains important even for patients with very advanced disease. In addition to the blood samples mentioned above, Wills will be providing skin biopsy samples on large numbers of patients to accelerate research developing stem cell technology for ocular use.


Help us make gene therapy a reality and cure blindness in thousands of children and adults afflicted by genetic eye diseases.