Dwight E. Stambolian

Dwight E. Stambolian, MD/PhD, holds the William C. Frayer Professorship in Ophthalmology at the University of Pennsylvania School of Medicine. He is a Full Member of the Institute for Human Gene Therapy and serves as an Attending Physician at Penn Presbyterian Medical Center and the Hospital of the University of Pennsylvania.

• Education: BA (Lycoming College, 1971), MD (SUNY Downstate, 1976), PhD in Genetics (University of Pennsylvania, 1983)
• Training: Intern/Resident in Medicine (Long Island Jewish Hospital, 1976-1977); Postdoctoral fellowships in Anatomy and Neurological Science (University of Pennsylvania, 1977-1983); Ophthalmology residency (1983-1986); Clinical/Molecular Genetics fellowship (1986-1988)

Research Focus: Dr. Stambolian specializes in the genetics of eye diseases, particularly age-related macular degeneration (AMD) and refractive error. His work spans:

• Genome-wide association studies (GWAS) for AMD and glaucoma
• Next-generation sequencing of AMD in African Americans
• Genetic studies of AMD in the Amish population
• Whole exome sequencing of refractive error families
• Zebrafish modeling of eye disease mechanisms
• Mouse models for microphthalmia

Publication Trends: His recent work (2023-2025) emphasizes multiethnic genetic studies, advanced sequencing methodologies, and transcriptomic analysis in AMD. Collaborative studies highlight international consortia involvement and cross-platform validation using bioinformatics.

Laboratory: The lab employs bioinformatics, DNA cloning, PCR, in situ hybridization, and zebrafish phenotyping to validate genetic findings. Key personnel include Murthy Chavali, Eric Chen, Debra Dana, and others working on AMD, refractive error, and microphthalmia projects.

Technical Expertise: Combines human genetic studies with model organism validation (zebrafish, mice) to bridge clinical observations and molecular mechanisms in eye diseases.