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Genetic Research Brings Hope for Inherited Retinal Disorders

Just two decades ago, patients diagnosed with inherited retinal disorders had little reason to expect a cure, or even an effective treatment option. Times have changed: today, the pace of innovation in precision ophthalmology has accelerated significantly thanks to a new understanding of the genetics behind such retinal disorders. And the Inherited Retinal Disorders Service at Massachusetts Eye and Ear (MEE), drawing on over 45 years of innovation in retinal care, is at the center of that transformation.

There are over 260 known genetic versions of inherited retinal degeneration (IRD), a cause of progressive sight impairment and blindness. Of those, approximately two-thirds are diagnosable with the Genetic Eye Disease (GEDi) Test, provided as a first step at MEE. Investigators in the Ocular Genomics Institute (OGI) at MEE are also hard at work searching for the genetic causes of disease in the remaining third of patients. Once diagnosed with a specific genetic type of IRD, patients may then be eligible for one of the gene or genetic therapies under investigation by leading research institutions. MEE is leading or participating in six of the 11 such trials currently underway.

260+ genetic versions of inherited retinal degeneration

Subjects in the clinical trials receive their gene therapy treatments mostly by sub-retinal injection, an outpatient surgery performed by highly trained retina surgeons at MEE. The clinical trials require a significant time commitment from patients, involving multiple visits, with one motivation being the potential for substantial quality of life improvements. “These patients in our trials are heroes, as the first humans participating in these studies,” says Eric Pierce, MD, Director of the Inherited Retinal Disorders Service and the Chatlos Professor of Ophthalmology, MEE and Harvard Medical School.

The momentum in the IRD field is in part due to the recent FDA approval of the first gene therapy drug for an inherited disease, a form of early onset, severe IRD called RPE65-associated retinal degeneration. The team in the OGI and Inherited Retinal Disorders service at MEE are one of the Centers of Excellence at which this treatment is being provided; in early 2018 the team performed the first such post-approval treatment for a 13-year-old boy.

“There’s a new element here that didn’t exist before: there’s hope,” says Dr. Pierce. “The application of genetic therapies for these types of disorders is a game-changer.”