- Retina Research Foundation
- About RRF
- Pilot Study Grants
- Research Programs
- Overview of Research 2017
- History of Major Award Recipients
- Established Awards
- Chairs & Professorships
- International Fellowships
- Research Initiatives
- Important Research in Progress
- Contact Us
M D Matthews Professor
Bikash Pattnaik, PhD
Department of Pediatrics, Ophthalmology & Visual Sciences
University of Wisconsin
McPherson Eye Research Institute
Dr. Pattnaik’s Research Project
Vision Loss Due to Ion-Channelopathy
Current Research Interests
Ion channelopathies are diseases caused by defective ion channels. Ion channels are membrane proteins distributed throughout the human body and mediate cell-cell communication through passage of specific ions into or out of cells. Patients with a specific potassium channel gene (KCNJ13, encoding Kir7.1 protein present in the Retinal Pigment Epithelium RPE) coding variants are diagnosed with a spectrum of blindness phenotypes: Snowflake Vitreoretinal Degeneration (SVD) and Lebers congenital Amaurosis (LCA). Dr. Pattnaik has shown that a loss-of-function in the Kir7.1 channel disrupts RPE and photoreceptor cell communication using ectopic expressions and a mouse model that demonstrate pathological features in carriers.
RPE cells are retina glial cells that support our ability to see. Function of these RPE cells relies on the activity of ion channels and transporters confined to the membrane micro domain. Dr. Pattnaik is using small animal models, cell culture system and patient derived iPSC-RPE cells to understand cellular phenotypes. Any identifiable distinction between the control and diseased cells permit us to test efficacy of various therapeutic measures through “patient-in-a-dish” approach. Some of the experimental strategies his laboratory currently uses are small molecule drugs to overcome translational errors, or use of gene manipulation to measure Kir7.1 current through patch-clamp electrophysiology outcome.
Dr. Pattnaik’s future focus is on the basic understanding of the cellular basis of potassium and chloride channel function in the retina as tools to diagnose disease so as to develop its prevention.
7/1/2012 – 6/30/2016
Nansi Jo Colley, PhD
Department of Ophthalmology and Visual Sciences
Department of Genetics
University of Wisconsin,
Dr. Colley’s Research Project
Molecular Genetic Studies of Retinal Degeneration in Drosophila
Current Research Interests
Dr. Colley is focused on using Drosophila as a model for studying hereditary human retinal diseases, such as retinitis pigmentosa (RP) and age-related macular degeneration (AMD). An ongoing challenge in diagnosing and treating AMD and RP is that they are highly complex diseases with multiple subtypes, each with a distinct genetic and biochemical basis. This complexity, along with the limited availability of suitable tissues from RP and AMD patients and the broad base of knowledge of Drosophila genetics, all combine to make Drosophila a powerful animal model for studying inherited retinal degeneration disorders.
The proposed project will continue her focus on a novel Sec23-IP protein and its role in photoreceptor health and retinal degeneration. Dr. Colley’s laboratory has identified this novel locus as a retinal degeneration gene, which encodes a Sec23-Interacting Protein (Sec23-IP) and contains a signature of the Nir/rdgB family of proteins in flies and humans that is involved in retinal degeneration.
This year they will further characterize the role of the Drosophila Sec23-IP in the secretory pathway. In a comprehensive analysis, they will study the role of Sec23-IP in the transport of the major rhodopsin (Rh1), how defects in Sec23-IP lead to retinal degeneration. The Drosophila Sec23-IP displays 49% identity with the human Sec23-IP. Studies proposed here will provide insights into the basis of Nir/rdgB function in humans.