Johanna M. Seddon, MD, ScM
Director, Ophthalmic Epidemiology
& Genetics Service
Vitreoretinal Diseases & Surgery Service
New England Eye Center
Tufts Medical Center
Professor of Ophthalmology,
Tufts University School of Medicine
Johanna M. Seddon, MD, ScM is a retina specialist and genetic epidemiologist at the New England Eye Center in Boston, Massachusetts. She is a Professor of Ophthalmology at Tufts University School of Medicine and the Founding Director of the Ophthalmic Epidemiology and Genetics Service of Tufts Medical Center. Dr. Seddon is a renowned practicing ophthalmologist and specializes in the evaluation and treatment of patients with macular degeneration. Dr. Seddon has received several awards, including the prestigious Ingrid Kreissig Award from the European Retina, Macular and Vitreous Society in September of 2014. If you would like to make an appointment to see Dr. Seddon as a patient, please call 617-636-9000.
Dr. Seddon began the Studies of Macular Degeneration and Other Eye Diseases in 1988. She primarily studies macular degeneration, Stargardt Disease, Best Disease, other macular dystrophies, and high myopia. Her research has helped to develop better treatments as well as establish ways to prevent macular degeneration and other eye diseases. There are now over 6,000 subjects enrolled, including over 500 families and nearly 1,000 identical and fraternal twins. She is recognized worldwide for her groundbreaking research on nutritional factors and their association with AMD, as well as for her novel discoveries regarding genetic, biologic, and genetic-environmental factors associated with early and late onset forms of macular degeneration. There are currently 20 known and confirmed genes associated with macular degeneration. Dr. Seddon and her research team have been involved in the discovery of 15 of these genes.
Recent breakthroughs in the Seddon Laboratory include the discovery of new genes related to macular degeneration, including the discovery of new of rare genetic variants that strongly increase familial risk of AMD. These genes are now targets for new therapies. She has also shown that eating a healthy diet can help overcome genetic susceptibility for the disease.
Dr. Seddon and her team have additionally developed many prediction models that combine genes and lifestyle factors related to macular degeneration, and validated the model. These models are being used in clinical research studies and may eventually be used for personalized medicine. Dr. Seddon recently implemented her most recent prediction model for progression to advanced stage macular degeneration in the form of an online risk calculator. This calculator could be used in the future to examine personal risk factors as well as gain an estimate of individual risk for this disease. We are looking for better markers of the onset and development of AMD, and transitions to more advanced stages of disease that lead to loss of vision. Information derived from images of your eyes, such as photographs or OCTs, will provide useful data to improve the precision of our predictive models.
Genetic variants related to AMD point to the underlying biology of the disease and can become therapeutic targets. A set of these markers known to be associated with AMD, along with knowledge of other non-genetic predictors (including age, sex, education, BMI, and smoking history) can be used to calculate a score associated with an individual probability of progressing to advanced disease. These probabilities can range from very low to very high, depending on the combination of individual risk factors. This knowledge can be useful for identifying high-risk individuals for lifestyle changes related to modifiable risk factors, selecting high-risk subjects for participation in clinical trials, and prescribing appropriate therapies.
Risk score models may also enhance patient management by clinicians, including advising on preventative measures, frequency of monitoring, assisting with the differential diagnosis of AMD and its subtypes, and possible diagnosis of treatable neovascular disease at an earlier stage. The risk calculator could also potentially assist in the development of personalized medicine approaches for AMD.
Participation in Studies
If you are interested in participating in Dr. Seddon’s Studies of Macular Degeneration and Other Eye Diseases, please contact her study staff at 1-800-219-9157 for additional information. Even if you do not have an eye disease, your participation is still very important. A critical part of our research is to determine how modifiable and genetic factors differ between those who do have AMD and those who do not. Results of these studies will lead to new therapies for current and future generations. If you do not live in the Boston area, you can still participate in these studies!
Dr. Seddon is available for consultation in all areas of vitreoretinal diseases. Her special interests are in macular degeneration, macular dystrophies, hereditary retinal disorders, and retinal vascular disorders.
Dr. Seddon is a pioneer in nutritional research in age-related macular degeneration and cataract, as well as in the field of ophthalmic epidemiology and genetics. For more than 20 years, Dr. Seddon has received NIH grants on epidemiologic, biologic, and genetic biomarkers for macular degeneration, and has made original contributions in these areas. She was vice-president and trustee of the Association for Research and Vision in Ophthalmology (ARVO), serves on scientific advisory boards for macular degeneration foundations, and has received several awards including the inaugural Maurice F. Rabb, Jr. Award from Prevent Blindness America, for dedication and contributions to prevention and treatment of age-related macular degeneration.
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