Translating science into sight

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Translating science into sight

Every contribution to medical research at Gundersen Medical Foundation does more than advance science-it holds the power to change lives. Your gifts help spark discoveries that lead to earlier diagnoses, better treatments and improved care for people facing serious health conditions.

One such example is the innovative research being led by Syed M. A. Shah, MD, FACS, and his research team in the Department of Ophthalmology. A distinguished, board-certified retina surgeon and clinician scientist, Dr. Shah earned his medical degree from Aga Khan University Medical College in Karachi, Pakistan. He completed ophthalmology residency at the University of Rochester, N.Y. and advanced medical and surgical retina specialty training at Johns Hopkins University in the United States. He continued his career as faculty at Johns Hopkins University and later at the University of Pittsburgh Medical Center.

In 2022, Dr. Shah joined Emplify Health by Gundersen where he now serves as director of retina service and vice chair for research and digital health in the Department of Ophthalmology. His research focuses on two main areas: developing gene and cell therapies for diseases with few or no treatment options and using digital health and artificial intelligence tools to expand access to high-quality eye care in rural and underserved communities.

"Dr. Shah has brought exceptional expertise and direction to our research program," says Jennifer Kleven, MD, medical director of the Foundation's Gundersen Research Institute. "His combination of clinical insight and scientific innovation has strengthened our ability to translate discovery into patient care. Thanks to our donors, we have expanded our infrastructure to support complex, high-impact research that advances care in ophthalmology and across the organization."

Through the Gundersen Research Institute, Dr. Shah's team is leading several clinical trials that give patients at Emplify Health by Gundersen access to promising new therapies for serious and rare retinal diseases, with the goal of improving vision and quality of life. Typically found only at large academic centers, these treatments are especially valuable for conditions with limited or no treatment options.

"It's rare for a regional health system to offer this breadth of advanced clinical research," Dr. Shah says. "Our goal is simple: to make sure patients can access the most innovative treatments and exceptional care without ever having to leave home."

Hope for rare genetic diseases

Retinitis pigmentosa (RP) is a group of rare inherited eye diseases that cause progressive vision loss, often beginning in childhood or adolescence. For young people diagnosed with RP, the disease gradually steals their independence during the most formative years of life, making it difficult to drive, pursue education, work or participate in activities their peers take for granted. Without treatment, many patients face legal blindness by their twenties or thirties.

There is currently no cure for RP, which can be caused by mutations in nearly 100 different genes, making it one of the most complex inherited retinal diseases to treat.

However, Dr. Shah's team is evaluating a promising modifier gene therapy approach designed to work across multiple genetic forms of RP. Rather than targeting a single defective gene, this treatment aims to improve retinal cell survival and overall function, potentially preserving functional vision across different types of RP.

"The most devastating aspect of RP is watching young patients lose their sight during the years when they should be building their careers, starting families and living independently," Dr. Shah says. "A single gene therapy that could help preserve vision across different genetic forms would be transformative. With no approved treatment for RP, clinical trials are often the only option, but not everyone qualifies. Our FDA-authorized expanded-access program helps bridge that gap, offering investigational therapy to RP patients who don't meet trial criteria but still urgently need treatment options."

Advancing treatments for age-related vision loss

Age-related macular degeneration (AMD) is a leading cause of vision loss among older adults, affecting roughly one in ten people across the Midwest. As life expectancy continues to rise, this number is expected to climb sharply, potentially doubling by 2050.

AMD damages the macula, the part of the retina responsible for central vision, making it hard to read, drive or recognize faces. Dry AMD, particularly its advanced form known as geographic atrophy, represents one of the most challenging conditions in vision care. To date, effective treatment options have been severely lacking.

However, Dr. Shah's team is advancing novel modifier gene therapy research for dry AMD with focus on geographic atrophy where the need is most critical. The goal of these approaches is to provide lasting vision protection through a single treatment, offering real hope to patients who have had nowhere to turn. For the millions facing progressive vision loss, breakthrough therapy is both urgent and overdue.

"Dry AMD, especially geographic atrophy, represents one of the biggest unmet needs in ophthalmology," says Dr. Shah. "For years, we had essentially nothing to offer these patients, but now we have new hope for them. A 'one-and-done' gene therapy that could preserve vision would fundamentally change the lives of millions, not only in our region but around the world."

Suzanne Falkenberry, MD, chair of the Department of Ophthalmology, further emphasizes the impact of this research. "As ophthalmologists, we see the devastating effects of diseases such as retinitis pigmentosa and advanced AMD frequently," she says. "For the first time, we can offer access to emerging therapies and novel treatments being studied through our research program led by Dr. Shah."

Your impact on vision research

Every day, millions of people worldwide face the quiet but devastating reality of vision loss caused by genetic disease and aging. With your help, advances made locally at Emplify Health by Gundersen are transforming care globally. Your generosity and commitment make Dr. Shah's innovative research possible, bringing investigational treatment to our community and offering new hope to patients living with vision loss.

This is the power of your partnership: world-class care for our communities and discoveries that change lives around the world.

Support work done by researchers like Dr. Shah with a gift to the Medical Research Fund.

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