Ophthalmic genetics practice and research in India: Vision in 2020

doi:10.1002/ajmg.c.31827

. 2020 Sep;184(3):718-727.

doi: 10.1002/ajmg.c.31827. Epub 2020 Aug 31.

Ophthalmic genetics practice and research in India: Vision in 2020

Mayank Bansal^{1

2

3}, Radhika Tandon⁴, Rohit Saxena⁴, Arundhati Sharma⁵, Sagnik Sen⁴, Alisha Kishore⁴, Pradeep Venkatesh⁴, Souvik Maiti^{1

2}, Debojyoti Chakraborty^{1

2}

Affiliations

¹ Council for Scientific and Industrial Research (CSIR), Institute of Genomics and Integrative Biology (IGIB), New Delhi, India.
² Academy of Scientific and Innovative Research (AcSIR), Delhi, India.
³ Department of Ophthalmology, Fortis Memorial Research Institute, Gurugram, India.
⁴ Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences (AIIMS), New Delhi, India.
⁵ Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi, India.

PMID: 32865332
DOI: 10.1002/ajmg.c.31827

Ophthalmic genetics practice and research in India: Vision in 2020

Mayank Bansal et al. Am J Med Genet C Semin Med Genet. 2020 Sep.

. 2020 Sep;184(3):718-727.

doi: 10.1002/ajmg.c.31827. Epub 2020 Aug 31.

Authors

Mayank Bansal^{1

2

3}, Radhika Tandon⁴, Rohit Saxena⁴, Arundhati Sharma⁵, Sagnik Sen⁴, Alisha Kishore⁴, Pradeep Venkatesh⁴, Souvik Maiti^{1

2}, Debojyoti Chakraborty^{1

2}

Affiliations

¹ Council for Scientific and Industrial Research (CSIR), Institute of Genomics and Integrative Biology (IGIB), New Delhi, India.
² Academy of Scientific and Innovative Research (AcSIR), Delhi, India.
³ Department of Ophthalmology, Fortis Memorial Research Institute, Gurugram, India.
⁴ Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences (AIIMS), New Delhi, India.
⁵ Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi, India.

PMID: 32865332
DOI: 10.1002/ajmg.c.31827

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.

Keywords: India; eye genetics; genomics; precision medicine; stem cell therapy.

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Introduction to the special issue on Ophthalmic Genetics: Vision in 2020.
Hufnagel RB, Walter MA, Arno G. Hufnagel RB, et al. Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):535-537. doi: 10.1002/ajmg.c.31841. Epub 2020 Aug 31. Am J Med Genet C Semin Med Genet. 2020. PMID: 32864823 Free PMC article.
A bibliometric analysis of research on genetic retinal diseases done in India.
Kumaragurupari R, Mishra C. Kumaragurupari R, et al. Indian J Ophthalmol. 2022 Jul;70(7):2546-2550. doi: 10.4103/ijo.IJO_3154_21. Indian J Ophthalmol. 2022. PMID: 35791153 Free PMC article.

References

REFERENCES

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1. Banerjee, A., Chakraborty, S., Chakraborty, A., Chakrabarti, S., & Ray, K. (2016). Functional and structural analyses of CYP1B1 variants linked to congenital and adult-onset glaucoma to investigate the molecular basis of these diseases. PLoS One, 11(5), e0156252. https://doi.org/10.1371/journal.pone.0156252
1. Battu, R., Verma, A., Hariharan, R., Krishna, S., Kiran, R., Jacob, J., … Ghosh, A. (2015). Identification of novel mutations in ABCA4 gene: Clinical and genetic analysis of Indian patients with Stargardt disease. BioMed Research International, 2015, 940864. https://doi.org/10.1155/2015/940864
1. Battu, R., Jeyabalan, N., Murthy, P., Reddy, K. S., Schouten, J. S., & Webers, C. A. (2016). Genetic analysis and clinical phenotype of two Indian families with X-linked choroideremia. Indian Journal of Ophthalmology, 64(12), 924-929. https://doi.org/10.4103/0301-4738.198866

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[1] Acharya, S., Mishra, A., Paul, D., Ansari, A. H., Azhar, M., Sharma, N., … Chakraborty, D. (2019). Francisella novicida Cas9 interrogates genomic DNA with very high specificity and can be used for mammalian genome editing. Proceedings of the National Academy of Sciences, 116(42), 20959-20968. http://dx.doi.org/10.1073/pnas.1818461116

[2] Acharya, S., Mishra, A., Paul, D., Ansari, A. H., Azhar, M., Sharma, N., … Chakraborty, D. (2019). Francisella novicida Cas9 interrogates genomic DNA with very high specificity and can be used for mammalian genome editing. Proceedings of the National Academy of Sciences, 116(42), 20959-20968. http://dx.doi.org/10.1073/pnas.1818461116

[3] Balasubbu, S., Sundaresan, P., Rajendran, A., Ramasamy, K., Govindarajan, G., Perumalsamy, N., & Hejtmancik, J. F. (2010). Association analysis of nine candidate gene polymorphisms in Indian patients with type 2 diabetic retinopathy. BMC Medical Genetics, 11, 158. https://doi.org/10.1186/1471-2350-11-158

[4] Balasubbu, S., Sundaresan, P., Rajendran, A., Ramasamy, K., Govindarajan, G., Perumalsamy, N., & Hejtmancik, J. F. (2010). Association analysis of nine candidate gene polymorphisms in Indian patients with type 2 diabetic retinopathy. BMC Medical Genetics, 11, 158. https://doi.org/10.1186/1471-2350-11-158

[5] Banerjee, A., Chakraborty, S., Chakraborty, A., Chakrabarti, S., & Ray, K. (2016). Functional and structural analyses of CYP1B1 variants linked to congenital and adult-onset glaucoma to investigate the molecular basis of these diseases. PLoS One, 11(5), e0156252. https://doi.org/10.1371/journal.pone.0156252

[6] Banerjee, A., Chakraborty, S., Chakraborty, A., Chakrabarti, S., & Ray, K. (2016). Functional and structural analyses of CYP1B1 variants linked to congenital and adult-onset glaucoma to investigate the molecular basis of these diseases. PLoS One, 11(5), e0156252. https://doi.org/10.1371/journal.pone.0156252

[7] Battu, R., Verma, A., Hariharan, R., Krishna, S., Kiran, R., Jacob, J., … Ghosh, A. (2015). Identification of novel mutations in ABCA4 gene: Clinical and genetic analysis of Indian patients with Stargardt disease. BioMed Research International, 2015, 940864. https://doi.org/10.1155/2015/940864

[8] Battu, R., Verma, A., Hariharan, R., Krishna, S., Kiran, R., Jacob, J., … Ghosh, A. (2015). Identification of novel mutations in ABCA4 gene: Clinical and genetic analysis of Indian patients with Stargardt disease. BioMed Research International, 2015, 940864. https://doi.org/10.1155/2015/940864

[9] Battu, R., Jeyabalan, N., Murthy, P., Reddy, K. S., Schouten, J. S., & Webers, C. A. (2016). Genetic analysis and clinical phenotype of two Indian families with X-linked choroideremia. Indian Journal of Ophthalmology, 64(12), 924-929. https://doi.org/10.4103/0301-4738.198866

[10] Battu, R., Jeyabalan, N., Murthy, P., Reddy, K. S., Schouten, J. S., & Webers, C. A. (2016). Genetic analysis and clinical phenotype of two Indian families with X-linked choroideremia. Indian Journal of Ophthalmology, 64(12), 924-929. https://doi.org/10.4103/0301-4738.198866

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Ophthalmic genetics practice and research in India: Vision in 2020

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Ophthalmic genetics practice and research in India: Vision in 2020

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