Ph.D. (Human Genetics) Guru Nanak Dev University Amritsar and National Centre of Applied Human Genetics (NCAHG) JNU New Delhi (2008)
Human Genetics, Medical Genetics
Research work: To study the genetic predisposition of complex and rare genetic disorders. Applied Whole Exome Next Generation Sequencing (NGS) technology to identify the causal genetic variations in many rare genetic disorders such as PKAN, PPAC, NF1, Leigh’s Syndrome, SCA in Indian Population. Performed first time population screening and Genome Wide Association Study (GWAS) to identify the prevalence and genetic associations of Scoliosis in North Indian Population. Part of NIH project to establish NGS technology-based genomics core at UT Southwestern Medical Centre, USA, where applied targeted NGS technology and identified the actual causing variations and their functional role in manifestation of Lupus (SLE).
- Associate Professor, School of Life Sciences, Jawaharlal Nehru University, New Delhi (25 Aug 2023 onward)
- Assistant Professor, School of Biotechnology, Shri Mata Vaishno Devi University, J&K (2012-2023)
- Post Doc Researcher II, University of Texas Southwestern Medical Centre USA (2008-2012)
- Postdoctoral certificate in research by UT Southwestern Medical Center, USA (2010).
- CSIR-UGC NET Junior Research Fellowship (2004)
- Received international grant from National Geographic Society USA under Human Genographic Project “Analyses of Modern Human DNA to understand genomic formation of population groups from J&K-India.” as Co- Principal investigator (2018-2022)
- Received international grant from National Geographic Society USA under Human Genographic Project “Genetic Diversity and Evolutionary Perspectives in Population Groups of Jammu and Kashmir” as Co- Principal investigator (2014-2017)
- Spolia, A., Angural, A., Sharma, V., Shipra, Razdan, S., Dhar, M. K., . . . Rai, E. (2023). Cost-effective Whole Exome Sequencing discovers pathogenic variant causing Neurofibromatosis type 1 in a family from Jammu and Kashmir, India. Nature Scientific Reports, 13(1), 7852.
- Singh, H., Shipra, Sharma, V., Sharma, I., Sharma, A., Modeel, S., Rai E*., Ikegawa S., Sharma, S*. (2022). The first study of epidemiology of adolescent idiopathic scoliosis shows lower prevalence in females of Jammu and Kashmir, India. Am J Transl Res, 14(2), 1100-1106.
- Sethi, I., Sharma, V., Sharma, I., Singh, G., Bhat, G. R., Bhanwer, A. J. S., . . . Rai, E. (2020). Telomere Maintenance Genes are associated with Type 2 Diabetes Susceptibility in Northwest Indian Population Group. Nature Scientific Reports, 10(1), 6444.
- Sharma, S., Singh, I., Haider, S., Malik, M.Z., Ponnusamy, K., Rai, E. RE: ACE2 Homodimerization Affects Binding of SARS-CoV-2 Spike Protein (reply to Yan et. al. 2020. Structural basis for the recognition of SARS-CoV-2 by full-length human ACE2. Science, Vol. 367, Issue 6485, pp. 1444-1448).
- Sethi, I., Bhat, G. R., Kumar, R., Rai, E., & Sharma, S. (2021). Dual labeled fluorescence probe based qPCR assay to measure the telomere length. Gene, 767, 145178.
- Raj, P*., Rai, E*., Song, R., Khan, S., Wakeland, B. E., Viswanathan, K., . . . Wakeland, E. K. (2016). Regulatory polymorphisms modulate the expression of HLA class II molecules and promote autoimmunity. Elife, 5.
- Sharma, V., Sharma, I., Sethi, I., Mahajan, A., Singh, G., Angural, A., . . .Rai E* & Sharma, S*. (2017). Replication of newly identified type 2 diabetes susceptible loci in Northwest Indian population. Diabetes Res Clin Pract, 126, 160-163.
- Rai, E., Mahajan, A., Kumar, P., Angural, A., Dhar, M. K., Razdan, S., . . . Sharma, S. (2016). Whole Exome Screening Identifies Novel and Recurrent WISP3 Mutations Causing Progressive Pseudorheumatoid Dysplasia in Jammu and Kashmir-India. Nature Scientific Reports, 6, 27684.
- Rai, E., Sharma, S., Kaul, S., Jain, K., Matharoo, K., Bhanwer, A. S., & Bamezai, R. N. (2012). The interactive effect of SIRT1 promoter region polymorphism on type 2 diabetes susceptibility in the North Indian population. PLoS One, 7(11), e48621.
- Angural A., Sharma I., Pandoh .P, Sharma V., Spolia A., Rai E, . . . Sharma S. (2019). A case report on a novel MT-ATP6 gene variation in atypical mitochondrial Leigh syndrome associated with bilateral basal ganglia calcifications. Mitochondrion, 46, 209-213.
- Sharma S., Lalrohlui F., Sharma V., Sharma I., Sharma S., Javed Parihar T., . . . Rai E. (2020). Candidate gene association study of UCP3 variant rs1800849 with T2D in Mizo population of Northeast India. Int J Diabetes Dev Ctries.
- Angural, A., Spolia, A., Mahajan, A., Verma, V., Sharma, A., Kumar, P., Dhar, M. K., Pandita, K. K., Rai, E.*, & Sharma, S*. (2020). Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir - India. Frontiers in genetics, 11, 415.
- Rai E., Wakeland EK. (2011) Genetic predisposition to autoimmunity--what have we learned? Seminars in Immunology.23(2):67-83.