Kiran Polavarapu
Research Interests: Inherited Neuromuscular diseases, Neurogenetics, Next generation sequencing (NGS) analysis, Neuromuscular junction disorders, Primary Muscle disorders, Muscular dystrophies, Congenital myopathies
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Biography
Dr. Kiran Polavarapu completed his PhD in 2019 at the National Institute of Mental Health and Neurosciences (NIMHANS) in India. He is an M.B.B.S (Bachelor of Medicine and Bachelor of Surgery) graduate who shifted his focus to research in neuromuscular disorders and neurogenetics. His PhD work involved developing next generation sequencing (NGS)-based tests for detection of both copy number variations and point mutations in Duchenne Muscular Dystrophy. He further worked on analysing NGS data and genotype-phenotype correlations of various inherited neuromuscular disorders in India including Limb-Girdle Muscular Dystrophy, congenital myopathies, hereditary neuropathies, and Congenital Myasthenic Syndrome. He was part of a monthly neuromuscular disease specialty clinic run by Professor Atchayaram Nalini (neuromuscular specialist) at NIMHANS and was involved in clinical evaluation and genetic counselling of patients with inherited neuromuscular disorders. His research interest is in primary muscle disorders and neuromuscular genetics. He recently joined the Lochmüller Lab as a postdoctoral fellow and is looking forward to continuing research in neuromuscular genetics and Congenital Myasthenic Syndrome.
Recent Publications
Baskar, D, Vengalil, S, Polavarapu, K, Preethish-Kumar, V, Arunachal, G, Sukrutha, R et al.. Phenotypic Heterogeneity in ORAI-1-Associated Congenital Myopathy. Glob Med Genet. 2024.11 (4)297-303 PMID:39238562
Baskar, D, Reddy, N, Preethish-Kumar, V, Polavarapu, K, Nishadham, V, Vengalil, S et al.. GNE Myopathy: Genotype - Phenotype Correlation and Disease Progression in an Indian Cohort. J Neuromuscul Dis. 2024.11 (5)959-968 PMID:39213088
Chawla, T, Nashi, S, Baskar, D, Polavarapu, K, Vengalil, S, Bardhan, M et al.. Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India. Neurogenetics. 2024. PMID:39103709
Srivastava, K, Arshad, F, Mujawar, WJ, Cranberg, L, Rajeshwaran, J, Afsar, M et al.. Cognitive and Behavioral Profile of Patients with Amyotrophic Lateral Sclerosis Spectrum in the Indian Context. Dement Geriatr Cogn Disord. 2024. 1-11 PMID:39068922
Baskar, D, Preethish-Kumar, V, Polavarapu, K, Vengalil, S, Nashi, S, Menon, D et al.. Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort. J Neuromuscul Dis. 2024.11 (5)969-979 PMID:39058449
Harikrishna, GV, Padmanabha, H, Polavarapu, K, Anjanappa, RM, Preethish-Kumar, V, Nandeesh, BN et al.. Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India. J Neuromuscul Dis. 2024.11 (5)935-957 PMID:38968056
Natera-de Benito, D, Pugliese, A, Polavarapu, K, Guergueltcheva, V, Tournev, I, Todorova, A et al.. Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases. Pediatr Neurol. 2024.157 5-13 PMID:38833907
Olimpio, C, Paramonov, I, Matalonga, L, Laurie, S, Schon, K, Polavarapu, K et al.. Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease. J Neuromuscul Dis. 2024.11 (4)767-775 PMID:38759022
Steyaert, W, Sagath, L, Demidov, G, Yépez, VA, Esteve-Codina, A, Gagneur, J et al.. Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing. medRxiv. 2024. PMID:38746462
Bardhan, M, Polavarapu, K, Baskar, D, Preethish-Kumar, V, Vengalil, S, Nashi, S et al.. Identification of a Novel Intronic Mutation in VMA21 Associated with a Classical Form of X-Linked Myopathy with Autophagy. Glob Med Genet. 2024.11 (2)167-174 PMID:38736558
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