Ophthalmic genetics practice and research in India: Vision in 2020. Issue 3 (31st August 2020)

• Record Type: Journal Article
• Authors: Bansal, Mayank; Tandon, Radhika; Saxena, Rohit; Sharma, Arundhati; Sen, Sagnik; Kishore, Alisha; Venkatesh, Pradeep; Maiti, Souvik; Chakraborty, Debojyoti
• Other Names: Hufnagel Robert guestEditor.; Walter Michael guestEditor.; Arno Gavin guestEditor.
• Is Part Of: American journal of medical genetics. Volume 184:Issue 3(2020)
• Page Start: 718
• Page End: 727
• Publication Date: 2020-08-31
• Subjects: eye genetics -- genomics -- India -- precision medicine -- stem cell therapy; Medical genetics -- Periodicals; 616.04205
• DOI: 10.1002/ajmg.c.31827
• Languages: English
• ISSNs: 1552-4868

Abstract

Abstract: Ophthalmic genetics is a much needed and growing area in India. Ethnic diversity, with a high degree of consanguinity, has led to a high prevalence of genetic disorders in the country. As the second most populous country in the world, this naturally results in a significant number of affected people overall. Practice involves coherent association between ophthalmologists, genetic counselor and pediatricians. Eye genetics in India in recent times has witnessed advanced research using cutting edge diagnostics, next generation sequencing (NGS) approaches, stem cell therapies, gene therapy and genomic editing. This article will highlight the studies reporting genetic variations in the country, challenges in practice, and the latest advances in ophthalmic genetic research in India.