Development of New CHM Mouse Models

Head Shot of Malia Edwards, PhD, Associate Professor of Ophthalmology

Dr. Malia Edwards

Head Shot of Abigail Fahim, MD, PhD, Clinical Assistant Professor, Ophthalmology and Visual Sciences

Dr. Abigail Fahim

Dr. Kathleen Boesze-Battaglia

Malia Edwards, PhD
Associate Professor of Ophthalmology
Wilmer Eye Institute, Johns Hopkins Medicine, Baltimore, MD

Abigail Fahim, MD, PhD
Assistant Professor Ophthalmology and Visual Sciences
Kellogg Eye Center, University of Michigan, Ann Arbor, MI

Kathleen Boesze-Battaglia, PhD
Professor of Biochemistry and Biophysics
University of Pennsylvania, Philadelphia, PA

Lay Abstract

This project aims to better define the clinical and histological pathology of choroideremia by studying choroideremia conditional knock out mice. The investigators will be creating different mice by targeting different cell types to help determine which model best replicates the progression of retinal and RPE degeneration in choroideremia patients. The study will involve clinical imaging and vision testing of the mice at various ages followed by careful assessment of the retinal structure. This will determine what aspects of choroideremia are accurately mimicked in the mouse models, information that will be valuable in testing therapies.

Key Findings

This research is currently underway. Key findings will be published upon research conclusion.