My research focus is on the genetics of inherited retinal degenerative (IRD) diseases (IRD). I am currently working on Leber Congenital Amaurosis (LCA) where we have performed targeted resequencing of LCA cohort, to identify the prevalence of mutation in known candidate genes of LCA. We presented the first mutation spectrum report from India by screening larger LCA cohort (100 cases). In continuation, we are also performing whole exome sequencing of IRD, data analysis and validation to find novel candidate gene involved in IRDs. I am interested in performing characterization studies and genome editing techniques that might help in future gene therapy trials in IRDs.

1. Sudha D, Neriyanuri S, Sachidanandam R, Natarajan SN, Gandra M, Tharigopala A, Sivashanmugam M, Alameen M, Vetrivel U, Gopal L, Khetan V, Raman R, Sen P, Chidambaram S, Arunachalam JP. Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?. PLoS One. 2018 May 31;13(5):e0198086. doi: 10.1371/journal.pone.0198086.


2. Natarajan N. Srikrupa, Sundaramurthy Srilekha, Parveen Sen, Tharigopala Arokiasamy, Swaminathan Meenakshi, Muna Bhende, Suman Kapur and Nagasamy Soumittra. Genetic Profile and Mutation Spectrum of Leber Congenital Amaurosis in a Larger Indian Cohort using High Throughput Targeted Re-sequencing. Clin Genet. 2018 Feb;93(2):329-339. doi: 10.1111/cge.13159.


3. Srilekha S, Arokiasamy T, Srikrupa NN, Umashankar V, Meenakshi S, Sen P, Kapur S, Soumittra N. Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families. PLoS One. 2015; 10(7):e0131679. doi: 10.1371/journal.pone.0131679. PMID: 26147992.


4. Srikrupa NN, Meenakshi S, Arokiasamy T, Murali K, Soumittra N. Leber's congenital amaurosis as the retinal degenerative phenotype in thiamine responsive megaloblastic anaemia: a case report. Ophthalmic Genet. 2014 Jun; 35(2):119-24. doi: 10.3109/13816810.2013.793363. PMID: 23638917.


5. Bende P, Natarajan K, Marudhamuthu T, Madhavan J. Severity of familial isolated retinitis pigmentosa across different inheritance patterns among an Asian Indian cohort. J Pediatr Ophthalmol Strabismus, 2013; 50(1):34-6. PMID: 23463886.

2010
Travel grant for Indian Eye Research Group conference 2010, Hyderabad, India.

2013
Second best poster award for the poster titled “Screening of LCA9 locus gene, NMNAT1, in LCA cases of Indian cohort” in ASIA ARVO conference 2013, New Delhi, India.

2015
Swarnalatha Punshi Award for Best Research in Basic Science 2015 in vision research foundation.

2016
Travel fellowship for NextGen Genomics, Biology, Bioinformatics and Technologies (NGBT) Conference 2016, Cochin, India.

2018
Travel grant for Indian Eye Research Group conference-ARVO India chapter 2018, Hyderabad, India.

Gyan scholarship award to attend NextGen Genomics, Biology, Bioinformatics and Technologies (NGBT) Conference 2018, Jaipur, India.

Recipient of 2018 SGRF Genomics Project Grant Award

2019
Recipient of ICMR-Research associate 2019 fellowship.

Dr N N Srikrupa, PhD
Senior Research Fellow
Sankara Nethralaya ONGC Genetics and Molecular Biology Laboratory
Vision Research Foundation
41/18 College Road, Nungambakkam
Chennai – 600 006.
Ph: +91-(044) 28271616
Email: drsrikrupa@snmail.org