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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
 

Recruitment in Pakistan was slow during the last quarter due to Ramadan and devastating floods in central and southern parts of Punjab province. However, the team was able to identify two cases of congenital cataracts at the Layton Rahmatulla Benevolent Trust Hospital in Lahore. The US team completed mutational screening of multiple familial cases of congenital cataracts. The analysis of these cases has been submitted as manuscripts for publication to PLoS Genetics and Clinical Genetics. The US team is preparing two additional manuscripts for publication.

After a successful initial training collaboration with two graduate students from CEMB at the Wilmer Eye Institute, the US team has decided to continue with the training program.  Another graduate student from CEMB has been offered a fellowship starting in December. This decision was reached after Dr. Riazuddin’s recent trip to Lahore and in consultation with collaborators from CEMB. 

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