Macular degeneration is the leading cause of blindness in the United States, a disease that affected Erhart Muller. At the time I met Mr. Muller in 2007, landmark breakthroughs were being made in the technology and methods of genetic research. Anticipating these potential developments, I began to collect blood samples from patients with macular diseases several decades earlier.
I am a professor of ophthalmology at Tufts University School of Medicine and founding director of the Ophthalmic Epidemiology and Genetics Service at Tufts Medical Center in Boston. Mr. Muller’s support was pivotal in enabling our research team to leverage our unique resources and identify 15 of the genetic variants known to contribute to the origins of the disease, determine how genetic susceptibility interacts with modifiable lifestyle factors, and develop prediction models for the likelihood of progressing to the advanced stages of the disease with loss of vision. Many of these discoveries, published in leading scientific journals, are now targets for new modes of prevention and treatment.
As Mr. Muller wished, we shared our results with investigators worldwide, which led to additional insights into the pathways and mechanisms leading to the disease. His critical contributions to this research facilitated discoveries that will ultimately lead to a cure. In fact, a large pharmaceutical company has just launched a clinical trial to test a new treatment for macular degeneration with a design that incorporates one of our genetic discoveries, and another company has been testing a new treatment aimed at another genetic marker that our team identified.
On a personal note, I became a friend of Mr. Muller and was fond of his witty humor and gracious demeanor when visiting him as recently as a month before he died, and during our weekly or biweekly calls. He made insightful comments and remained very interested in hearing about the progress we were making, the next steps, and future of the work. When I expressed deepest gratitude for our partnership, Mr. Muller would humbly respond that my research team did all of the work. In fact, much of the remarkable progress in knowledge about macular degeneration in the last eight years would not have been possible without Mr. Muller, which can be recognized as part of his legacy.
One of my patients once said that the worst thing about the disease was not being able to see the faces of the people we love. Mr. Muller made a huge global impact on helping future generations see the faces of the people they love. I will miss him deeply.
Johanna M. Seddon, M.D., Sc.M.
Professor of Ophthalmology, Tufts University School of Medicine
