The Neuromuscular Disease Network for Canada


Kiran Polavarapu

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Post Doctoral Fellow, Lochmüller Lab, CHEO-RI

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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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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-Girgle 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 Myathenic Syndrome.

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Recent publications

Polavarapu, K, Mathur, A, Joshi, A, Nashi, S, Preethish-Kumar, V, Bardhan, M et al.. A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients. Neurogenetics. 2021. PMID:34333724

Mhatre, R, Sekar, D, Ponmalar, J, Nagappa, M, Veeramani, PK, Polavarapu, K et al.. Utility of Immunohistochemistry and Western Blot in Profiling Clinically Suspected Cases of Congenital Muscular Dystrophy. Ann Indian Acad Neurol. .24 (2)198-203 PMID:34220063

Polavarapu, K, Bardhan, M, Anjanappa, RM, Vengalil, S, Preethish-Kumar, V, Shingavi, L et al.. Nemaline Rod/Cap Myopathy Due to Novel Homozygous MYPN Mutations: The First Report from South Asia and Comprehensive Literature Review. J Clin Neurol. 2021.17 (3)409-418 PMID:34184449

Santhoshkumar, R, Preethish-Kumar, V, Polavarapu, K, Reghunathan, D, Chaudhari, S, Satyamoorthy, K et al.. A Novel L1 Linker Mutation in DES Resulted in Total Absence of Protein. J Mol Neurosci. 2021. PMID:34106405

Töpf, A, Pyle, A, Griffin, H, Matalonga, L, Schon, K, Solve-RD SNV-indel working group et al.. Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1). Eur J Hum Genet. 2021. PMID:34075209

Zurek, B, Ellwanger, K, Vissers, LELM, Schüle, R, Synofzik, M, Töpf, A et al.. Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases. Eur J Hum Genet. 2021. PMID:34075208

Sadasivan, A, Warrier, MG, Polavarapu, K, Preethish-Kumar, V, Nair, MG, Keerthipriya, MS et al.. Palliative Care in Duchenne Muscular Dystrophy: A Study on Parents' Understanding. Indian J Palliat Care. .27 (1)146-151 PMID:34035633

Nagabushana, D, Polavarapu, K, Bardhan, M, Arunachal, G, Gunasekaran, S, Preethish-Kumar, V et al.. Comparison of The Carrier Frequency of Pathogenic Variants of DMD Gene in an Indian Cohort. J Neuromuscul Dis. 2021.8 (4)525-535 PMID:33843695

Bardhan, M, Polavarapu, K, Bevinahalli, NN, Preethish-Kumar, V, Anjanappa, RM, Arunachal, G et al.. Correction: Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome. J Hum Genet. 2021.66 (8)841 PMID:33767318

Bardhan, M, Polavarapu, K, Bevinahalli, NN, Veeramani, PK, Anjanappa, RM, Arunachal, G et al.. Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome. J Hum Genet. 2021.66 (8)813-823 PMID:33712684

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