Project Title: Pathobiology of retinal Dease

Faculty Mentor’s Name: Dr. Ekaterina Lobanova
Phone: (352)273-8791
Email: elobanova@ufl.edu

Research Project Description:

The goal of our studies is to understand the molecular mechanisms of retinal degeneration and to develop new treatments to halt or delay vision loss. We focus on the processes of lipid and protein processing in retinal cells and study how they are altered in disease. Students will work on the characterization of new preclinical mouse models of blindness, and test novel approaches to treat retinal degeneration. This project will provide an opportunity to learn and apply a number of ophthalmological methods used in clinics and adapted for laboratory animals (OCT, angiography, ERG), as well as molecular biology (qRT-PCR, RNA-seq), and biochemistry methods (Western Blotting).

Entry Date: October 29, 2019

Project Title:Multimodal Testing to Discover the Dynamic Anatomical and Functional Changes of Retina in Patients with Inherited Retinal Diseases

Faculty Mentor’s Name:Dr. Jinghua Chen

Research Project Description:

Background Inherited retinal diseases (IRDs) are important causes of blindness that are characterized by progressive dysfunction and death of rod and cone photoreceptor cells leading to vision loss. Together, they have an estimated incidence of 1:2000 and thereby are the one of the leading causes of vision loss between 1 and 45 years of age. Functional defects of photoreceptors on electroretinogram can be detected long before visual field defects and visual impairment. Spectral-domain optical coherence tomography studies showed retinal segment alterations in degeneration. Early structural changes of retina, have been observed in these patients. It is important to determine the biomarkers of disease prognosis or predictors of treatment (gene and stem cell therapies) response based on multimodal testing. Hypothesis We expect outer retinal layer thinning on optical coherence tomography correlated with decrease of vision, electroretinography and visual field defect. By analyzing these data we would like to determine the biomarkers of disease prognosis. Different gene mutations may correlate with different pattern of the deterioration of visual function. Methods This is a retrospective study. Ophthalmology Department has about 500 patients (by coding search) who were diagnosed with inherited retinal diseases from 2012 to 2019. We will identify these patients in our system and analyze clinical testing results in different clinical visits during these years which includes visual acuity, electroretinography, visual field testing, optical coherence tomography, ultra-wide field color fundus photo to analyze the dynamic changes of visual function. Role of medical student Collecting clinical testing results and analyze the dynamic changes.

Entry Date: December 1, 2019

Project Title:Gene Therapy for cone dystrophy caused by mutations in cone opsin genes

Faculty Mentor’s Name:Dr. Wen-Tao Deng

Research Project Description:

In the human retina, L- and M-cones constitute about 95% of the total cone population and are primarily concentrated in the central macula responsible for our daylight, color, and fine spatial vision. Cone dystrophy resulting from mutations in the L- (long-wavelength,OPN1LW ) and M- (middle-wavelength, OPN1MW) opsin genes are associated with a wide range of visual defects including red/green color vision deficiency, blue cone monochromacy, X-linked cone dystrophy/dysfunction, and high myopia with abnormal cone function. Using M-opsin knockout (Opn1mw-/-) mice as a model, we showed that AAV-mediated expression of human M- or L-opsin promoted regrowth of cone outer segments and rescues M-cone function in the treated Opn1mw-/- dorsal retinas, providing proof-of-concept for gene augment therapy. Ongoing research aims to characterize disease mechanisms caused by different cone opsin mutations, to investigate cellular mechanisms leading to cone photoreceptor cell death. The results will help develop the most efficient treatment approach for these conditions.

Entry Date: December 5, 2019