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Jefferson James Doyle, M.B.B.Ch., M.H.S., Ph.D.
Assistant Professor of Ophthalmology
Expertise: Genetic Eye Disease, Pediatric Ophthalmology, Pediatric Ophthalmology and Strabismus Service
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, and anterior segment dysgenesis. 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, craniosynostosis), 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, including pediatric and juvenile forms of cataracts, glaucoma and anterior segment dysgenesis. He also has an interest in complex inherited forms of strabismus in both children and adults (such as CFEOM, Duane syndrome and craniosynostosis), as well as pediatric retinal dystrophies.
Over the past decade, he has been instrumental in advancing our understanding of Marfan syndrome and related connective tissue disorders. His work has led to the discovery of the genetic causes of Shprintzen-Goldberg syndrome and Loeys-Dietz like syndrome. He has been central to advancing our 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.
- Assistant Professor of Ophthalmology
Departments / Divisions
- MBBChir, Cambridge School of Clinical Medicine (2005)
- Johns Hopkins University School of Medicine / Ophthalmology (2017)
- Boston Children's Hospital / Pediatric Ophthalmology (2018)
- Pending/Scheduled / Ophthalmology
- Oxford University, Oxford, UK
- Masters in Public Health (MHS): Johns Hopkins University School of Public Health, Baltimore, MD
- PhD in Genetics and Molecular Medicine: Johns Hopkins University School of Medicine, Baltimore, MD
- Assistant Chief of Service: Wilmer Eye Institute, Johns Hopkins Hospital, Baltimore,
Research & Publications
Selected PublicationsView all on Pubmed
*Denotes equal contribution of authors
Habashi J.,* Doyle J.J.,* Holm T., Aziz H., Schoenhoff F., et al. Angiotensin II type 2 receptor signalling attenuates aortic aneurysm in mice through ERK antagonism. Science 2011; 332:361-5.
Holm T.,* Habashi J.,* Doyle J.J.,* Bedja D., Chen Y., et al. Noncanonical TGFβ signalling contributes to aortic aneurysm progression in Marfan syndrome mice. Science 2011; 332:358-61.
Doyle A.J.,* Doyle J.J.,* Bessling S.L., Maragh S., et al. Mutations in the TGFβ repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nature Genetics 2012; 44:1249-54.
Lindsay M.E., Schepers D., Bolar N.A., Doyle J.J., et al. Loss of function mutations in TGFβ2 cause a syndromic presentation of thoracic aortic aneurysm. Nature Genetics 2012; 44:922-7.
Doyle J.J.,* Doyle A.J.,* Wilson N., Habashi J.P., et al. A deleterious gene-by-environment interaction imposed by calcium channel blockers in Marfan Syndrome. E-life 2015; 4. Piie08648.
Activities & Honors
- Victor A. McKusick Fellowship, National Marfan Foundation
- 2009 Charles Epstein Trainee Research Award, American Society of Human Genetics
- 2010 Charles Epstein Trainee Research Award Finalist, American Society of Human Genetics
- 2011 Michael A. Shanoff Award, Johns Hopkins University School of Medicine
- 2016 W. Richard Green Housestaff Teaching Award
- 2017 Wilmer Research Association Research Award
- American Society of Human Genetics
- Association for Research in Vision and Ophthalmology
- American Association for Pediatric Ophthalmology and Strabismus