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Pakistan-US Science and Technology Cooperation Program                                                            
Phase 4 (2009 Deadline)

A Molecular Approach to Prevent Hereditary Blindness in Pakistan 

John Gottsch and S. Amer Riazuddin, The Johns Hopkins University; and J. Fielding Hejtmancik, National Eye Institute
Tayyab Husnain, Centre of Excellence in Molecular Biology; Nadeem Butt and Haiba Kaul, Allama Iqbal Medical College; and Z.A. Qazi, Layton Rehmatullah Benevolent Trust Hospital
Pakistani Funding (HEC): $236,801
US Funding (Department of State): $270,326
Project Dates: November 15, 2010 - November 14, 2013 (Extended through November 14, 2014)
Project Overview
Blindness affects all ages and societies worldwide and has enormous personal, social, and economic costs, limiting the education and life choices of otherwise healthy people and placing a significant burden on their families and communities. Every year millions lose their eye sight, mostly through preventable causes, and Pakistan has a particularly high incidence of such cases. While many socioeconomic factors play a role, one of the most important is familial, arising from intra-family marriages, which are socially preferred and widely practiced throughout Pakistan. This project involves a collaborative effort to establish a facility to screen families afflicted with familial forms of cataract and corneal dystrophies and counsel these families to preclude future inheritable cases of blindness. In addition, the research team will investigate the genetic basis of these anomalies in the Pakistani population to enhance the reliability of screening tests. Finally, the researchers will train personnel to confront similar problems beyond the life of this project.
Quarterly Update
Earlier this year, the US team identified causal mutations in FOXE3 in two familial cases. Later the team further established that the causal mutations do not affect the expression pattern of the FOXE3 protein. During the last 12 months, the team successfully identified the transcriptome (the total transcripts present in cell) and proteome (total protein present in cell) of human cells expressing mutant FOXE3 protein. Next year, the US team will focus on analyzing the data and expect to identify the physiologically relevant molecular targets that are up- and/or down- regulated either at RNA level and/or at the protein levels at the site of pathology in ocular tissue. This will help the team better understand the pathomechanism of cataract development leading to better clinical treatments and therapeutic approaches. The team is also pleased to report that they have successfully completed an animal model for FYCO1, a gene that accounts significantly to the total genetic load of congenital cataracts in the Pakistani population. They are now back-crossing these mice to generate homogenous background to prepare for the histological analysis of the FYCO1 KO lenses utilizing different microscopic techniques.

On the Pakistani side, researchers are continuing to collect samples, clinical data, and extract DNA for analysis. Within the past nine months, a total of 27 cases of congenital cataracts were identified at the Allama Iqbal Medical College and the Layton Rahmatulla Benevolent Trust (LRBT) hospital. The Pakistani team has prepared two manuscripts reporting the results of exclusion analyses completed at CEMB and will be submitting the manuscripts to peer reviewed journals for publication in the coming month. 
Progress Reports

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