Abstract
The journey to map autosomal recessive retinitis pigmentosa (RP) genes both syndromic and non-syndromic started in mid-1990 in India. The potential of consanguineous, large sibship families was exploited with overwhelming results particularly using homozygosity mapping methodology. The project came to standstill due to limited funding and complicated logistics to work in field in India. Even though the struggle started with multiple barriers and challenges, it was one of the most successful stories that a team of ophthalmologists and vision scientists in India and New Zealand enjoyed. These sincere efforts have led today towards promising gene therapy. This is a narrative story of those yesteryears.
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See Discover magazine published on line 17 Dec 2008. http://discovermagazine.com/columns/top-100-stories-of-2008/
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Kumaramanickavel, G., Denton, M.J. (2019). Ophthalmic Genetics in India: From Tentative Beginnings in the 1980’s to Major Achievements in the Twenty-First Century. In: Prakash, G., Iwata, T. (eds) Advances in Vision Research, Volume II. Essentials in Ophthalmology. Springer, Singapore. https://doi.org/10.1007/978-981-13-0884-0_11
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