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Prekshi Garg, Prachi Srivastava, Farrukh Jamal
Amity Institute of Biotechnology, Amity University Uttar Pradesh, India Dr. Rammanohar Lohia Avadh University, India
ScientificTracks Abstracts: J Neurol Clin Neurosci
Intellectual disability disorder is a neurodevelopmental disorder affecting the functioning of your brain. According to the Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5), intellectual disability is a neurodevelopmental disorder that occurs during the childhood leading to intellectual, social, conceptual, and practical difficulties. The condition affects around 1-3% of the world’s population. Genetic factors play a key role in the development and progression of intellectual disability. Thus, mutations in these genetic factors can be an important cause of intellectual disability. There are still many variants which have been left undetected. In the present study, we aim to identify mutations that play an important role in the development of the disease. 25 samples of intellectual disability from different studies available on GEO (GSE77742, GSE74263, GSE90682, GSE98476, GSE108887, GSE145710, and PRJEB21964) were taken for the study. The datasets were analyzed for differential gene expression and single nucleotide polymorphism (SNPs). The SNPs of high impact were compared with the differentially expressed genes. The identified priority gene was evaluated for the effect of mutation using MutationTaster followed by the structure comparison and the functional analysis of the wild and mutated gene sequence. Our study identified NPR3 as downregulated in the patients of intellectual disability. Further, the non-sense mutation occurring in the NPR3 gene predicted by mutational analysis can help in the early diagnosis of the disease. Thus, the genetic mutations can disrupt the normal functioning of the NPR3 gene leading to problems in the developmental stage of the nervous system causing intellectual disability. Recent Publications 1. Neha Srivastava, Prekshi Garg, Anurag Singh, Prachi Srivastava. Molecular docking approaches and its significance in assessing the antioxidant properties in different compounds. Edited by Gerald Litwack. Vitamins and Hormones, Academic Press, Volume 121, 2023. Pages 67-80 2. Prekshi Garg, Farrukhh Jamal, Prachi Srivastava. Deciphering the role of precursor miR-12136 and miR-8485 in the progression of intellectual disability (ID). IBRO Neuroscience Reports 13 (2022). 393-401 3. Prekshi Garg, Prachi Srivastava, Mohd Aqib, Payal Trivedi, Neha Srivastava, Prachi Srivastava. Network gene analysis of potential target for neurological disorders through system biology approach. Int J Neurol Neurosurg. 2022; 14 (2): 45-53
Prekshi Garg is a young, dynamic, and meritorious professional biotechnologist. She is a skilled bioinformatician with great zeal to do her best in neurosciences. She has many research papers, books and book chapters to her credit. She is also a research topic coordinator in Frontiers in Genetics and has 1 pipeline copyright as well. She has won various awards for her research presentations at different national and international conferences. She has recently won ‘International Best Researcher Award 2023’ for her work on miRNA and intellectual disability by the International Society for Scientific Network (ISSN). In addition to that, she has also been awarded with ‘Representing the Institution in Scientific Events’ citation by Amity University Uttar Pradesh. She has also won the ‘Best Paper Presentation Award’ by UGC STRIDE-I funded National Conference on Recent Trends in Trans-disciplinary Research for Socioeconomic Development of India and ‘First Prize for Oral Presentation’ at National Conference on Pollution Control and Sustainable Environment. Her tremendous skills and knowledge make her a good blend of biotechnology and bioinformatics.