My research work focuses on the Molecular Genetics of congenital eye diseases (ocular developmental disorders, retinoblastoma, congenital glaucoma, syndromic and non syndromic IRDs) and adult onset diseases ( Primary glaucomas, Myopia, DR) and other conditions leading to vision loss like LHON . As a part of ocular gene mapping studies, we leverage on consanguineous / inbred families for autosomal recessive conditions.

Genetics of IRDs

My current research focus is also to understand the molecular basis of hereditary retinal generations including the non syndromic(CRD, LCA, STGD1, XLRP) and syndromic forms of RP ( Usher syndrome and BardetBiedl syndrome), using high throughput next generation sequencing based approaches. The study on BBS has contributed towards the understanding of genetic profile of BBS patients in Indian population by identifying the mutations spectrum of BBS genes in Indian cohort with a potential for diagnostic translation for the patients. Due to many novel genes appended for BBS and the initial work did not include these regions, we are currently focusing on NGS based targeted re sequencing panel based approach, spanning many ciliopathy genes including the known BBS genes. A similar approach is also in progress for Usher syndrome

Global anomalies of eye

In addition to IRDs, my research also focuses on molecular genetic analysis of developmental disorders of the eye using high throughput techniques like array based chromosomal analysis, homozygosity mapping in autosomal recessive pedigrees and extension of these data for diagnostic and counselling application to the patients. The genetic analysis included chromosomal analysis by conventional and array based (arffymetrixcytoscan HD array) methods, exon deletion analysis for PAX6 and SOX2 gene by MLPA and targeted resequencing of candidate genes in Illumina platform was undertaken for understanding the genetics of ocular developmental anomalies in Indian population.

Complex eye diseases

I have been carrying out studies to understand the genetics of complex diseases like diabetic retinopathy, myopia and glaucoma through candidate gene based SNP analysis by case control study design and as a part of the consortium onglaucom genetics. As part of the grant work on myopia and glauocma,we have focussed on genetic association studies in candidate genes for ocular quantitative traits; primariy focussing on large consanguineous pedigrees as a part of the Indo US colloboration study.

Genetics of syndromic RP

Syndromic forms of RP present with systemic features. Usher syndrome and Bardet-Biedl syndrome are the most common forms of syndromic RP and are inherited in autosomal recessive manner. We are focused on identifying the understanding the genetics Usher syndrome and Bardet Biedl syndrome (BBS) in Indian population.

As a part of Indo French collaboration initiative between ICMR and INSERM, a study was conducted with Pr Hélène Dollfus from the Strasbourg university on understanding the molecular epidemiology of BBS in the Indian cohort using an SNP based homozygosity mapping in 30 small consanguineous Indian pedigrees. This is the first study in Indian BBS patients and homozygosity mapping has proved to be an effective tool in prioritizing the candidate genes in consanguineous pedigrees. The results were further validated in another BBS cohort for recurrent mutations and rapid method of detection. To expand our understanding on pleiotropic diseases like BBS, a targeted NGS based approach was adopted. This large scale approach, besides identifying the causative mutation also provide further information on other variants and genetic modifiers. We are also focusing on understanding the role of DNA methylation in the pathology of BBS. A DBT funded project on Usher syndrome aims to identify the genes/molecular networks involved in Usher syndrome in Indian patients.

A total of 204 syndromic RP (Usher syndrome and BBS) patients were recruited as a part of these projects. The use of targeted resequencing of specific candidate regions using next-generation sequencing (NGS) allows focused cost effective utilization of time, data analysis on specific areas of interest. This study has identified the mutation spectrum of Usher syndrome genes in Indian cohort with a potential for diagnostic translation for the patients.

Genetics of glaucoma and its subtypes

We are focusing on mapping the genetic etiology of glaucoma using Whole exome/genome sequencing in large familial pedigrees. Our research also focuses on epigenetic mechanisms in glaucoma. We also currently work on understanding the genetics of Pseudoexfoliation syndrome and glaucoma.

Book Chapters

1. Quantitative Trait for Glaucoma. S Sripriya, F Sharmila, S Kandeepan, R Georgein : Advances in Vision Research, Volume IIV:Genetic Eye Research in Asia and the Pacific, Prakash, Gyan, Iwata, Takeshi (Eds),pp449-456, 2019.


2. Chromosomal Disorders,Sarangapani S, Neema HV in : Eye in Systemic disorders, HvNeema (Eds)CCBS Publishers & Distributors, Wiley Publication, 2017.


3. Homozygosity Mapping forAutosomal Recessive Ocular Diseases. SatyaPriya C, Srilekha S, Sudha K, Sripriya S, Soumittra N, in : Advances in Vision Research, Volume I:Genetic Eye Research in Asia and the Pacific, Prakash, Gyan, Iwata, Takeshi (Eds),pp449-456, 2017.


4. Current Research Perspectives inUnderstanding Diabetic Retinopathy. Sripriya S, Raman R, Soumittra N, PandianJ,in : Advances in Vision Research, Volume I:Genetic Eye Research in Asia and the Pacific, Prakash, Gyan, Iwata, Takeshi (Eds), pp.259-274,2017


5. Diagnostic procedures forGenetically Transmitted Eye DiseasesSudha D, Sripriya S, Soumittra N , Pandian A J, in: Diagnostic Procedure inOphthalmology (3rd edition), Nema HV, Neema N (Au), Jaypee Brothers MedicalPublishers, New Delhi , 2014.(pp 388)


6. Genetics (Unit II), Kumaramanickavel G, Sripriya S, Soumittra N, Vinita K, Madhavan J, Ram Prasad VL, in : Manual of Medical Laboratory Techniques, Eds: Ramakrishnan,K. N. Sulochana, Jaypee Brothers Medical Publishers, New Delhi, pp114-164, 2012.

Journals

1. Chandrasekar SP, Namboothiri S, Sen P, Sarangapani S. Screening for mutation hotspots in Bardet–Biedl syndrome patients from India. The Indian journal of medical research. 2018;147(2):177.


2. Chekuri A, Guru AA, Biswas P, Branham K, Borooah S, Soto-Hermida A, et al. IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis. Human genetics. 2018;137(6-7):447-58.


3. Fan BJ, Chen X, Sondhi N, Sharmila PF, Soumittra N, Sripriya S, et al. Family-Based Genome-Wide Association Study of South Indian Pedigrees Supports WNT7B as a Central Corneal Thickness Locus. Investigative ophthalmology & visual science. 2018;59(6):2495-502.


4. Vinita K, Sripriya S, Philomenadin FMS, Vaitheeswaran K, Raman R, Sharma T. High order interaction analysis of SNPs in PEDF (rs12150053, rs12948385) and EPO (rs1617640) genes with clinical determinants of type 2 diabetic retinopathy patients from south India. Meta Gene. 2017;13:92-8.


5. Sudha D, Patric IRP, Ganapathy A, Agarwal S, Krishna S, Neriyanuri S, Sripriya S et al. Genetic studies in a patient with X-linked retinoschisis coexisting with developmental delay and sensorineural hearing loss. Ophthalmic genetics. 2017;38(3):260-6.


6. Aung T, Ozaki M, Lee MC, Schlötzer-Schrehardt U, Thorleifsson G, Mizoguchi T, et al. Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. Nature genetics. 2017;49(7):993.


7. Srilekha S, Rao B, Rao DM, Sudha D, Chandrasekar SP, Pandian A, et al. Strategies for Gene Mapping in Inherited Ophthalmic Diseases. The Asia-Pacific Journal of Ophthalmology. 2016;5(4):282-92.


8. Singh J, Mishra A, Pandian AJ, Mallipatna AC, Khetan V, Sripriya S, et al. Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort. Molecular vision. 2016;22:1036.


9. Shah PK, Sripriya S, Narendran V, Pandian A. Prenatal genetic diagnosis of retinoblastoma and report of RB1 gene mutation from India. Ophthalmic genetics. 2016;37(4):430-3.


10. Priya S, Nampoothiri S, Sen P, Sripriya S. Bardet–Biedl syndrome: Genetics, molecular pathophysiology, and disease management. Indian journal of ophthalmology. 2016;64(9):620.


11. AnandBabu K, Bharathidevi S, Sripriya S, Sen P, Prakash VJ, Bindu A, et al. Serum Paraoxonase activity in relation to lipid profile in Age-related Macular Degeneration patients. Experimental eye research. 2016;152:100-12.


12. Gayathri R, Coral K, Sharmila F, Sripriya S, Sripriya K, Manish P, et al. Correlation of aqueous humor Lysyl oxidase activity with TGF-ß levels and LOXL1 genotype in Pseudoexfoliation. Current eye research. 2016;41(10):1331-8.


13. Khor CC, Do T, Jia H, Nakano M, George R, Abu-Amero K, et al. Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma. Nature genetics. 2016;48(5):556.


14. SathyaPriya C, Sen P, Umashankar V, Gupta N, Kabra M, Kumaramanickavel G, et al. Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort. Clinical genetics. 2015;87(2):161-6.


15. Philomenadin FS, Asokan R, Viswanathan N, George R, Lingam V, Sarangapani S. Genetic association of SNPs near ATOH7, CARD10, CDKN2B, CDC7 and SIX1/SIX6 with the endophenotypes of primary open angle glaucoma in Indian population. PloS one. 2015;10(3):e0119703.


16. Li Z, Allingham RR, Nakano M, Jia L, Chen Y, Ikeda Y, et al. A common variant near TGFBR3 is associated with primary open angle glaucoma. Human molecular genetics. 2015;24(13):3880-92.


17. Sharmila F, Ramprabhu K, Kumaramanickavel G, Sudhir R, Sripriya S. Genetic analysis of axial length genes in high grade myopia from Indian population. Meta gene. 2014;2:164-75.


18. Vithana EN, Khor C-C, Qiao C, Nongpiur ME, George R, Chen L-J, et al. Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma. Nature genetics. 2012;44(10):1142.


19. Vinita K, Sripriya S, Prathiba K, Vaitheeswaran K, Sathyabaarathi R, Rajesh M, et al. ICAM-1 K469E polymorphism is a genetic determinant for the clinical risk factors of T2D subjects with retinopathy in Indians: a population-based case–control study. BMJ open. 2012;2(4):e001036.


20. Sripriya S, George R, Vijaya L, Kumaramanickavel G. Understanding the biology of glaucoma : The current scenario. Journal of Current Glaucoma practice. May – Aug 2007 Vol 1 No. 1


21. Sripriya S, George R, Arvind H, Baskaran M, Raju P, Ramesh S, et al. Transforming Growth Factor β-1− 509C> T Polymorphism in Indian Patients with Primary Open Angle Glaucoma. Molecular diagnosis & therapy. 2007;11(3):151-4.


22. Ramprasad VL, George RJ, Sripriya S, Nirmaladevi J, Vijaya L, Kumaramanickavel G. Molecular genetic analysis of a consanguineous south Indian family with congenital glaucoma: relevance of genetic testing and counseling. Ophthalmic genetics. 2007;28(1):17-24.


23. Sripriya S, Nirmaladevi J, George R, Hemamalini A, Baskaran M, Prema R, et al. OPTN gene: profile of patients with glaucoma from India. Molecular vision. 2006;12(816):e20.


24. Ramprasad VL, Sripriya S, Ronnie G, Nancarrow D, Saxena S, Hemamalini A, et al. Genetic homogeneity for inherited congenital microcoria loci in an Asian Indian pedigree. Molecular vision. 2005;11:934-40.


25. Sripriya S, Uthra S, Sangeetha R, George R, Hemamalini A, Paul P, et al. Low frequency of myocilin mutations in Indian primary open‐angle glaucoma patients. Clinical genetics. 2004;65(4):333-7.


26. Kumaramanickavel G, Sripriya S, Ramprasad VL, Upadyay NK, Paul PG, Sharma T. Z–2 aldose reductase allele and diabetic retinopathy in India. Ophthalmic genetics. 2003;24(1):41-8.


27. Arvind H, Paul PG, Raju P, Baskaran M, George R, Balu S, et al. Methods and design of the Chennai Glaucoma Study. Ophthalmic epidemiology. 2003;10(5):337-48.


28. Kumaramanickavel G, Sripriya S, Vellanki R, Upadyay N, Badrinath S, Rajendran V, et al. Inducible nitric oxide synthase gene and diabetic retinopathy in Asian Indian patients. Clinical genetics. 2002;61(5):344-8.


29. Kumaramanickavel G, Ramprasad VL, Sripriya S, Upadyay NK, Paul PG, Sharma T. Association of Gly82Ser polymorphism in the RAGE gene with diabetic retinopathy in type II diabetic Asian Indian patients. Journal of Diabetes and its Complications. 2002;16(6):391-4.


30. Kumaramanickavel G, Sripriya S, Vellanki RN, Upadyay NK, Badrinath SS, Arokiasamy T, et al. Tumor necrosis factor allelic polymorphism with diabetic retinopathy in India. Diabetes research and clinical practice. 2001;54(2):89-94.


31. Ramprasad VL, Paul PG, Sripriya S, Kumaramanickavel G (2001) Databases and free softwareson the Net for DNA analyses. Insight. 2001; 19:3.


32. Sulochana KN, Maheswari UK, Sripriya S, Priya K, Punitham R, Biswas J, et al. Eales’ disease and reduction of antioxidant vitamins: need for vitamin E and C therapy. Insight 1999; 17: 11-4.

2012
DST Fast Track fellowship (SERB)

2010
ICMR exchange visit to Universitaires de Strasbourg (INSERM lab), and Laboratoire de CytogénétiquePrénatale et Constitutionnelle - Hôpital de Hautepierre, Strasbourg, France

2006
Young Scientist Award, 31st Indian Society of Human Genetics, New Delhi,

2004
Best Poster 29th Indian Society of Human Genetics

2000
Young Investigator Award, Singapore Eye Research Institute International Meeting

1999
Travel fellowship, IX Indian Eye Research Group Meeting, Hyderabad

1999
Bangalore Genie Best Outgoing Student Award for Clinical genetics

Dr S Sripriya, PhD
SN ONGC Department of Genetics and MolecularBiology
Vision Research Foundation,
41/18 College Road, Nungambakkam
Chennai – 600 006.
Ph: +91-(044) 4227 1807, 28287 1807 Extn:1308
Email: drss@snmail.org