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A Center for Genetic Eye Diseases

A Center for Genetic Eye Diseases

When Jefferson Doyle, M.D., Ph.D., returned to the Wilmer Eye Institute in the summer of 2018 to begin his year as assistant chief of service, he had an idea in mind to discuss with Wilmer Director Peter J. McDonnell, M.D. A pediatric ophthalmologist whose research focuses on genetic diseases, Doyle wanted to create a pediatric ophthalmology clinic dedicated to genetic eye diseases. McDonnell encouraged Doyle to think bigger, which inspired him to envision a genetic eye disease center — a place to centralize and coordinate care for all patients with genetic diseases affecting the eye. He outlined two central goals for the center: to make it easier to refer patients to the correct subspecialists within Wilmer and at Johns Hopkins in general, and to expedite genetic testing and genetic counseling for these patients.

Doyle approached Mandeep Singh, M.D., Ph.D., with the idea. A retina specialist whose research focuses on stem cells and genetic retinal diseases, Singh was intrigued. “Flashback to just five years ago, there weren’t any available gene therapies — and very few clinical trials were happening,” says Singh. But 2017 marked “a gateway moment in ophthalmology,” he explains, when the U.S. Food and Drug Administration approved the first gene therapy for a form of inherited retinal dystrophy that is caused by mutations in the RPE65 gene. Called Luxturna, this gene therapy increased the relevance, and urgency, of knowing the specific genetic mutation implicated in a genetic eye condition.

“Jef and I both recognized that during our careers, gene testing and gene therapy were going to become hugely important — that it was the future of high-quality eye care,” says Singh. They both also recognized that Wilmer was uniquely situated for a genetic eye disease center. “There are very few places in the country that have a truly exceptional ophthalmology department and a truly exceptional genetics department,” says Doyle.

“Wilmer had all the pieces in place: the different areas of expertise, the proximity to the Department of Genetic Medicine, and an Institute that was committed to innovation and excellence in ophthalmic treatment,” says Singh. “To bring all those pieces together we had to centralize this into a genetic center.”

The two launched the Wilmer Eye Institute Genetic Eye Disease (GEDi) Center in early 2020. While they are co-directors of the GEDi Center, they are both quick to point out it is not a two-man band. “We have centralized, multidisciplinary eye care across all Wilmer subspecialties,” says Singh.

The GEDi Center has a website with one contact number and one email address, so patients and referring physicians do not need to spend time calling around for a specialist. The contact information leads them to GEDi patient coordinator Alie Collins, who can direct patients and referring physicians to a doctor from a “go-to” list of contacts in Wilmer’s different subspecialties and in other Hopkins departments.

In addition to coordination of care, a central pillar of the GEDi Center is the genetic counseling service. In her position as the GEDi’s primary genetic counselor, Christy Smith, from the Johns Hopkins Department of Genetic Medicine, facilitates and interprets genetic testing for patients.

“My role as a genetic counselor is not just to order a test. It’s to meet with the family, collect more information about their medical and family history and to help to figure out what is the most appropriate test for them. And then I talk them through what the implications of that test would be in terms of their health and the health of other family members,” says Smith.

One family she has worked closely with is the Morgans. Emily Morgan met her husband, Dirk, playing blind hockey — “ice hockey, but the puck is metal and has bells inside of it. And everybody is blind,” she explains. Both she and her husband have Stargardt disease, an inherited disorder of the retina.

Stargardt causes deterioration of the light-sensitive cells in the macula where fine focusing occurs. The result is the loss of central vision, although the severity of the disease has a wide spectrum. Emily can see color, read with magnification and “get around really well,” while her husband’s vision is “basically shadows and motion.”

A question that has vexed them is why the course of their diseases has taken two very different paths. This question became more important when she became pregnant with their first child.

Both Emily and Dirk had been clinically diagnosed, but neither had received a confirmation of the Stargardt disease diagnosis from genetic testing. When Emily saw Singh, he referred her to Smith for genetic testing. Smith recommended both Emily and Dirk be tested. When the results came back, they learned that they both do have Stargardt disease, which means their son — and all future children — will have the disease.

They also learned another key piece of information. “We didn’t realize there were different mutations that caused Stargardt,” she says. Dirk turns out to have “two of the rarest mutations ever,” she says. This knowledge has provided them peace of mind. “Now he’s able to understand why his vision is different from other people’s Stargardt,” says Emily.

Emily gave birth to her son, Killian, in March of 2021. While she and Dirk are patients of Singh, Killian will soon become a patient of Doyle. When he is old enough, they will have him tested. Knowing which mutations he has will help them plan for the future — plans that could range from getting the appropriate resources once he starts school to possibly teaching him Braille. And knowledge of their specific mutations will be of paramount importance to qualify for any clinical trials that could arise for therapies targeting those mutations.

Since the GEDi Center launched, the team has been able to streamline the process of providing genetic diagnoses to patients and families like the Morgans.

“Singh and Doyle have done a stellar job addressing this unmet need,” says McDonnell, “as referrals of patients with known or suspected genetic eye problems have skyrocketed since they created GEDi.”

“We’ve successfully conducted genetic testing on hundreds of patients,” says Singh. Doyle adds that they have reduced the wait time by more than a year to see a genetic counselor, undergo testing and receive a final diagnosis. “We have so many more patients who have completed this diagnostic journey because of the capacity that we have built up. It’s really transformative,” says Singh.

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