Jefferson Doyle, M.D., Ph.D., M.H.S. specializes in pediatric ophthalmology and genetic eye diseases. His main focus is pediatric and juvenile forms of cataracts, glaucoma, anterior segment dysgenesis, and ectopia lentis. His genetics interests include Marfan syndrome and related connective tissue disorders, complex inherited forms of strabismus in both children and adults (e.g. CFEOM, Duane syndrome), and pediatric retinal dystrophies.
Dr. Doyle has published extensively on a number of genetic disorders over the past decade, holds several patents for novel therapeutic approaches to treat them, and has given many national and international talks about them. Dr. Doyle's main research focus is understanding the genetic causes and molecular mechanisms driving genetic diseases, and utilizing that knowledge to develop new therapeutic strategies for them.
Over the past decade, he has played a significant role in advancing our understanding of Marfan syndrome and related connective tissue disorders. His work and that of collaborators has led to the discovery of the genetic causes of Shprintzen-Goldberg syndrome and Loeys-Dietz like syndrome. His work has also led to a much better understanding of the molecular mechanisms driving Marfan syndrome, and he holds two patents for novel therapeutic strategies to treat it.
Part of his current work focuses on the identification of genes that protect people from developing a number of genetic disorders, and leveraging that knowledge to develop new therapies for those diseases. He also has an interest in pediatric myopia, and has ongoing pre-clinical studies seeking to understand the mechanisms that may drive it and the development of novel therapeutic strategies to treat it.