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Jefferson Doyle, MD PhD MHS
- Assistant Professor of Ophthalmology
Expertise: Pediatric Ophthalmology, Ophthalmology
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Mandeep Singh, MD PhD
- Associate Professor of Ophthalmology
Expertise: Retina and Vitreous Diseases, Ophthalmology
Wilmer Genetic Eye Disease Center
What We Offer
The Wilmer GEDi Center has dedicated faculty within each sub-specialty of ophthalmology (for example, cornea, glaucoma, neuro-ophthalmology, pediatrics, retina), who are experienced in caring for patients with complex genetic eye issues.
Specialized services within the center include:
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Our dedicated genetic counseling service sees patients in-house at Wilmer to allow them to get the genetic testing they need as efficiently and seamlessly as possible. Our counselors are members of the Johns Hopkins Department of Genetic Medicine. They see patients across the entire genetic eye disease spectrum and have the ability to coordinate testing with other specialty services.
Appointments with our genetic counselors can be arranged ahead of time to make the most efficient use of a patient’s time with us and limit the need for return visits.
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Wilmer’s well-established, state-of-the-art electrophysiology service administers to adult patients and children over the age of seven years.
For younger patients, or those whose mental and/or physical capabilities prevent them from undergoing standard testing, we offer non-sedated ERG/VEP testing to obtain the information needed to make a diagnosis, without the risks of general anesthesia.
For patients who are unable to tolerate awake testing, we offer sedated testing, which can be coordinated in advance if patients are coming from a long distance.
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Many patients not only need clinical care from our eye physicians, but they also need assistance with obtaining critical ancillary services that allow them to function at home, work, and in other aspects of daily life.
Wilmer’s team of dedicated low vision specialists can help patients achieve this goal. As with all of our GEDi Center services, if a patient is coming from a long distance, their Low Vision appointment can be coordinated with their other appointments at Wilmer to make the most efficient use of their time with us.
Genetic Counselors
Christy H. Smith, Sc.M., C.G.C.
Christy Smith is a board-certified genetic counselor in the Johns Hopkins Department of Genetic Medicine. She is a member of the National Society of Genetic Counselors as well as a diplomate and member of the American Board of Genetic Counseling. She received her master's degree in genetic counseling from the Johns Hopkins/National Human Genome Research Institute (NHGRI) genetic counseling program.
Expertise, disease and conditions: Adult and pediatric genetic disease; inherited retinal and other ocular disorders; inherited neuromuscular disease; inherited adult and pediatric cancers
Kelsey Guthrie, M.G.C., C.G.C
Kelsey Guthrie is a board-certified genetic counselor in the Johns Hopkins Department of Genetic Medicine. She is a member of the National Society of Genetic Counselors as well as the president-elect of the Maryland and DC Society of Genetic Counselors. She received her master's degree in genetic counseling from the University of Maryland School of Medicine genetic counseling program.
Expertise, disease and conditions: Adult and pediatric genetic disease; inherited retinal and other ocular disorders; inborn errors of metabolism; inherited hematology conditions
GEDi Research Activities
The Wilmer GEDi Center is proud to be part of a number of ongoing and upcoming clinical trials. These include:
- FFB RUSH1F: Rate of Progression of PCDH15-Related Retinal Degeneration in Usher Syndrome 1F (enrolling now)
- AGTC- RPGR: A Clinical Trial Evaluating the Safety and Efficacy of a Single Subretinal Injection of AGTC-501 in Participants With X-linked Retinitis Pigmentosa Caused by RPGR Mutations (enrolling soon)
In addition, pre-clinical research studies are ongoing to evaluate novel therapies, including both gene and stem cell therapy, for genetic causes of high myopia and a range of inherited retinal dystrophies. For more information about our clinical or pre-clinical trial activities, please contact us.
Contact Us
For questions about the Wilmer GEDi Center, or to book an appointment:
Alie Collins
Genetic Eye Disease Center Coordinator
Email: [email protected]
Phone: 443-927-8573
Fax: 410-367-3260
Email: [email protected]
Phone: 443-927-8573
Fax: 410-367-3260
Mary Frey
Research Program Manager
Email: [email protected]
Phone: Phone: 443-287-7912
Sierra Thomas
Research Coordinator
Email: [email protected]
Phone: 410-5021231
Read more about the Wilmer GEDi Center
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Common Cause, Uncommon Mission
Two clinician-scientists with a shared interest guide patients and families through the maze of living with genetic eye disease — and work to discover new cutting-edge therapies to treat it.
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A Center for Genetic Eye Diseases
The GEDi Center began with a vision: a place to centralize and coordinate care for all patients with genetic diseases affecting the eye.
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New Center to Focus on Genetic Eye Diseases
To address the needs of patients with genetic eye disease, doctors Jefferson Doyle and Mandeep Singh have established the Wilmer Genetic Eye Disease Center (GEDi) at Johns Hopkins Medicine.
