Dr. Vanniarajan’s research interest spans from basic to translational research of eye diseases with a special focus on ocular tumors. He uses multi-omic approaches for dissecting out the molecular basis of ocular disorders. He works closely with clinicians to solve major problems such as development, progression and treatment resistance in ocular tumors and help them to improve the disease prognosis. He utilises the cutting-edge technologies such as Massive Parallel Sequencing, Bead Array, In vitro functional assays to study genomic, epigenomic and cellular alterations. His lab has developed a unique strategy for rapid and efficient genetic testing of retinoblastoma and successfully translated for clinic testing of RB1.

Other research interests of the lab include mitochondrial diseases with ophthalmic manifestations; identification of mitochondrial biomarkers in glaucoma; analysis of mitochondrial DNA damage and repair in age-related macular degeneration.

Peer-Reviewed Journals

1. Vanniarajan A, Nayak D, Reddy AG, Singh L, Thangaraj K (2006) Clinical and genetic uniqueness in an individual with MELAS. J. Med. Genet (B). 141(5): 440-444.
2. Vanniarajan A, Rajshekher GP, Joshi MB, Reddy AG, Singh L, Thangaraj K (2006) Novel mitochondrial mutation in ND4 gene associated with Leigh Syndrome. Acta Neurol. Scand. 114(5): 350-353
3. Deepa-Selvi Rani, Vanniarajan A, Gupta NJ, Chakravarty BN, Singh L, Thangaraj K (2006) A novel missense mutation C11994T in the mitochondrial ND4 gene as a cause of low sperm motility in the Indian subcontinent. Steril. 86 (6): 1783-1785
4. Prasad GN, Vanniarajan A, Emmanuel C, Cherian KM, Singh L, Thangaraj K (2006) Novel mitochondrial DNA mutations in a rare variety of hypertrophic cardiomyopathy. J. Cardiol. 109(3): 432-433.
5. Thangaraj  K, Chaubey G, Singh VK, Vanniarajan A, Thanseem I, Reddy AG, Singh L (2006) In situ origin of deep rooting lineages of mitochondrial Macrohaplogroup ‘M’ in India. BMC Genomics. 7: 151
6. Vanniarajan A, Jagadish BH, Megha U, Govindaraj P, Kumar A, Reddy AG, Sundaram C, Meena AK, Gayatri N, Nayak SD, Elango EM, Kumar A, Singh L, Thangaraj K (2007) Mitochondrial ND5: A candidate gene for neuromuscular diseases in India. Mitochondrion 6:410
7. Vennison SJ, Vanniarajan A, Sankar SG, Vasan PT, Prabhu DI. (2007) Bacterial gene transfer in soil from a hospital environment. Global J Biotech Biochem 2(1):33-35
8. Dhandapany PS, Sadayappan S, Vanniarajan A, Karthikeyan B, Nagaraj C, Gowrishankar K, Selvam GS, Singh L, Thangaraj K. (2007) Novel mitochondrial DNA mutations implicated in Noonan syndrome. Int J Cardiol.120:284-285
9. Megha U, Sundaram C, Meena AK, Reddy KM, Reddy K, Vanniarajan A, Thangaraj K. (2008) Lipid Storage Myopathy report of 3 cases with unusual manifestations Neurol India 56(3):391-393
10. Karkare K, Sinha S, Ravishankar S, Gayathri N, Yasha C, Goyal MK, Vijayan J, Vanniarajan A, Thangaraj K, Taly AB. (2008) Epilepsia partialis continua in mitochondrial dysfunction: Interesting phenotypic and MRI observations. Ann Indian Acad Neurol 11:193-196
11. Kulawiec M, Ayyasamy V, Singh KK. (2009) p53 regulates mtDNA copy number and mitocheckpoint pathway. J Carcinog. 8(1):8
12. Singh K, Ayyasamy V, Owens K, Koul M, Vujcic M (2009) Mutations in mitochondrial DNA polymerase γ promotes breast tumorigenesis. J Hum Genet 54(9):516-24
13. Owens K, Kulawiec M, Ayyasamy V, Hall B, Figel S, Singh K (2010) Role of oxidative phosphorylation in breast tumorigenesis. Mitochondrion 10: 228
14. Sundaram S, Meena AK, Megha U, Govindaraj P,Vanniarajan A,  Thangaraj K, Kaul S, Kekkunaya R, Murthy JMK (2011) Contribution of muscle biopsy and genetics to the diagnosis of chronic progressive external ophthalmoplegia of mitochondrial origin. J Clin Neurosci 18(4):535-8.
15. Vanniarajan A, Govindaraj P, Carlus J, Aruna M, Aruna P, Kumar A, Jayakar RI, Lionel AC, Gupta S, Rao L,  Gupta NJ , Chakravarthy B, Deenadayal M, Selvaraj K, Andal S, Reddy BM, Singh L, Thangaraj K (2011) Mitochondrial DNA variations associated with recurrent pregnancy loss among Indian women. Mitochondrion 11(3):450-6
16. Govindaraj P, Khan NA, Gopalakrishna P, Chandra RV, Vanniarajan A, Reddy AA, Singh S, Kumaresan R, Srinivas G, Singh L, Thangaraj K (2011) Mitochondrial dysfunction and genetic heterogeneity in chronic periodontitis. Mitochondrion 11(3):504-12
17. Vanniarajan A, Owens KM, Desouki MM, Liang P, Bakin A, Thangaraj K, Singh KK (2011) Cellular model of Warburg Effect identified tumor promoting function of UCP2 in Breast cancer and its suppression by Genipin. PLoS One. 6(9):e24792
18. Owens KM, Kulawiec M, Desouki MM, Vanniarajan A, Singh KK (2011) Impaired OXPHOS complex III in breast cancer. PLoS One. 6(8):e23846
19. Azrak S, Vanniarajan A, Zirpoli G, Ambrosone C, Bandera EV, Bovbjerg,DH Jandorf L, Ciupak G, Davis W, Pawlish KS, Liang P, Singh K (2012) CAG repeat variants in the POLG1 gene encoding mtDNA polymerase-gamma and risk of breast cancer in African-American women PLoS One. 7(1):e29548
20. Davidson BA, Vethanayagam RR, Grimm MJ, Mullan BA, Raghavendran K, Blackwell TS, Freeman ML, Ayyasamy V, Singh KK, Sporn MB, Itagaki K, Hauser CJ, Knight PR, Segal BH (2013) NADPH oxidase and Nrf2 regulate gastric aspiration-induced inflammation and acute lung injury. J Immunol 190(4): 1714-24
21. Khan NA, Govindaraj P, Soumittra N, Srilekha S, Ambika S,Vanniarajan A, Meena AK, Uppin MS, Sundaram C, Taly AB, Bindu PS, Gayathri N, Thangaraj K (2013) Haplogroup Heterogeneity of LHON Patients Carrying the m.14484T>C Mutation in India. Invest Ophthalmol Vis Sci. 54(6):3999-4005
22. Gaikwad N, Vanniarajan A, Husain A, Jeyaram I, Thirumalairaj K, Santhi R, Muthukkaruppan V, Kim U (2015) Knudson’s Two Hit Hypothesis revisited in Indian Retinoblastoma patients. Asia Pac J Clin Oncol, 11(4): 299–307
23. Devarajan B, Prakash L, Kannan TR, Abraham AA, Kim U, Muthukkaruppan V, Vanniarajan A (2015) Targeted Next Generation Sequencing of RB1 Gene for the Molecular Diagnosis of Retinoblastoma. BMC Cancer 15:320
24. Thirumalairaj K, Abraham A, Devarajan B, Gaikwad N, Kim U, Muthukkaruppan V, Vanniarajan A (2015) A new strategy for rapid and cost-effective RB1 screening in Indian Retinoblastoma patients J Hum Genet 60(9):547-52.
25. Singh B, Li X, Owens KM, Vanniarajan A, Liang P, Singh KK (2015) Human REV3 DNA Polymerase Zeta Localizes to Mitochondria and Protects the Mitochondrial Genome. PLoS ONE 10(10): e0140409.
26. Senthilkumari S, Sharmila R, Chidambaranathan G,Vanniarajan A.(2017) Epalrestat, an Aldose Reductase Inhibitor Prevents Glucose-Induced Toxicity in Human Retinal Pigment Epithelial Cells In Vitro. J Ocul Pharmacol Ther. 33(1):34-41
27. Khan NA, Govindaraj P, Soumittra N, Sharma S, Srilekha S, Ambika S, Vanniarajan A, Meena AK, Uppin MS, Sundaram C, Bindu PS, Gayathri N, Taly AB, Thangaraj K.(2017) Leber’s Hereditary Optic Neuropathy-Specific Mutation m.11778G>A Exists on Diverse Mitochondrial Haplogroups in India. Invest Ophthalmol Vis Sci.58(10):3923-3930.
28. Govindaraj P, Rani B, Sundaravadivel P, Vanniarajan A, Indumathi KP, Khan NA, Dhandapany PS, Rani DS, Tamang R, Bahl A, Narasimhan C, Rakshak D, Rathinavel A, Premkumar K, Khullar M, Thangaraj K. Mitochondrial genome variations in idiopathic dilated cardiomyopathy. Mitochondrion. 2019 Mar 22. pii: S1567-7249(18)30140-5.
29. Abraham A, Thirumalairaj K, Gaikwad N, Muthukkaruppan V, Reddy AG, Thangaraj K, Kim U, Vanniarajan A Retinoblastoma discordance in families with twins. Indian J Ophthalmol. 2019 Mar;67(3):436-439.
30. Kalaimani L, Devarajan B, Subramanian U, Ayyasamy V, Namperumalsamy VP, Veerappan M, Chidambaranathan GP. MicroRNA profiling of highly enriched human corneal epithelial stem cells by small RNA sequencing. Scientific Reports 2020 10:7418
31. Balaji S, Santhi R, Kim U, Muthukkaruppan V, Priya CG, Vanniarajan A. Cancer stem cells with overexpression of neuronal markers enhance chemoresistance and invasion in retinoblastoma. Current Cancer Drug Targets 2020 20(9):710-719
32. Balaji S, Vanniarajan A. Implication of Pseudo Reference Genes in Normalization of Data from Reverse Transcription-Quantitative PCR Gene. 2020 757:144948.
33. Gowri P, Kumar SM, Vanniarajan A, Bharanidharan D, Sundaresan.A hospital-based five-year prospective study on the prevalence of Leber’s hereditary optic neuropathy with genetic confirmation Mol Vis. 2020 26:789-796
34. Shanthini T, Balaji S, Kim U, Muthukkaruppan V, Vanniarajan AGenetic characterization of a patient with an unusual presentation of Waardenburg syndrome Type 4 and retinoblastoma. Pediatr Blood Cancer. 202168(1):e28553.
35. Sen S, Saraswathi KK, Ulaganathan S, Rajan R, Babu NVanniarajan A Variable Phenotypes of Gyrate Atrophy in Siblings with a Nonsense Mutation in OAT Ophthalmic Genet.2021 Jun; 42(3):300-303
36. Viswarubhiny S, Anjanamurthy R, Vanniarajan A, Bharanidharan D, Perumalsamy V, Sundaresan P Clinical exome sequencing facilitates the understanding of genetic heterogeneity in Leber congenital amaurosis patients with variable phenotype in southern India. Eye and Vision 2021 8:20
37. Jeyaprakash K, Shanthini T, Kim U, Muthukkaruppan VR, Vanniarajan A Human papillomavirus in retinoblastoma: A tertiary eye care center study from South India. Indian J Ophthalmol. 2021 (In press)
38. Balaji S, Kim U, Muthukkaruppan VR, Vanniarajan A. Emerging role of tumor microenvironment derived exosomes in therapeutic resistance and metastasis through epithelial-to-mesenchymal transition. Life Sciences 2021 (In press)

Book Chapters

1. Kim U, Thirumalairaj K, Abraham A, Shanthi R, Devarajan B, Muthukkaruppan V, Vanniarajan A Genetics of Retinoblastoma: Basic Research and Clinical Applications: Genetic Eye Research in Asia and the Pacific In book: Advances in Vision Research, Volume II DOI: 10.1007/978-981-13-0884-0_25
2. Devarajan B, Vanniarajan A, Sundaresan P Genomic Approaches to Eye Diseases: An Asian Perspective: Genetic Eye Research in Asia and the Pacific In book: Advances in Vision Research, Volume II DOI: 10.1007/978-981-13-0884-0_33

• IUSSTF fellow – Indo US Science and Technology Forum – 2013
• Best Abstract Award –United Mitochondrial Disease Foundation, USA – 2007
• Young Scientist Award – Indian Society of Human Genetics – 2007
• CSIR fellowship, CCMB, Hyderabad, India – 2002 to 2007
• IBRO fellowship for training in Neuroscience, CU, Cochin, India – 2004
• JCB Abraham Prize for excellence in Genetics – The American College, Madurai, India – 2001
• National Merit Scholarship -Government of India- 1994 to 2001
• IGCAR fellowship for summer training-Government of India-2000
• Child Scientist Award – Government of India (NCSC) -1993