Medical Student Research Fellowship for Summer 2006

Mentor: Wojciech Kedzierski, Ph.D., D.Sc.
Department: Ophthalmology
Room Number: E7.239
Mail Code: 9057
Phone Number: 214-648-9212
Email Address: Wojciech.Kedzierski@UTSouthwestern.edu

Project Title: Ocular pathology in a mouse model of Stargardt-3 macular dystrophy

Human subjects IRB approved project number (where applicable): not applicable

Animal subjects IRB approved project number (where applicable): APN# 1028-05-01-1

Project Type: animal-based research

Brief Description of Project:
A 5-bp deletion in the coding terminus of the human ELOVL4 gene is a cause of early-onset dominant Stargardt-3 macular dystrophy. We have generated Stgd3-gene knockin mice that carry the human mutation in order to study the pathogenic basis of the disease. The homozygous Stgd3 mice are born at the proper mendelian ratio. They are, however, lethargic, become hypoxemic and die a few hours after birth. The gross anatomy looks normal except for the presence of shiny skin. The purpose of the project is to evaluate any pathological changes in the eyes of new-born Stgd3 mice using histology, Western blot analysis and RT-PCR.

Previous Research Activities or Publications with Medical Students:
Last year I served as an adviser to two medical students in their summer research projects carried out in the Department of Ophthalmology.

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