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Ophthalmic genetics database launched
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Al-Shifa Trust Eye Hospital has launched Pakistan's first Ophthalmic Genetics Gene-Disease Variation Database, a major step toward improving the diagnosis and treatment of inherited eye diseases through precision medicine and locally relevant research.
The database, developed by the hospital's Department of Ophthalmic Genetics under geneticist Dr Rutaba Gul and senior bioinformatician Abu Bakar, records mutations linked to inherited retinal diseases, congenital cataracts, glaucoma, and corneal dystrophies.
The initiative aims to address a major gap in global genomic medicine, where most reference data comes from European or East Asian populations and often does not accurately reflect South Asian genetic patterns. Pakistan carries a comparatively high burden of inherited eye disorders because cousin marriages increase the risk of recessive genetic diseases.
According to Al-Shifa data, hereditary and congenital conditions account for nearly 40% to 60% of childhood blindness cases in Pakistan.
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