Kiran Polavarapu

Postdoctoral Fellow

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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

Baskar, D, Vengalil, S, Polavarapu, K, Preethish-Kumar, V, Nashi, S, Arunachal, G et al.. Titinopathies: Phenotype - genotype heterogeneity in an Indian cohort. J Neuromuscul Dis. 2025. 22143602241313119 PMID:40033712

Baskar, D, Christopher, R, Arunachal, G, Anudeep, DDS, Mounika, A, Sangeeth, TA et al.. Acute myeloneuropathy due to Glutaric aciduria-1: Expanding the phenotypic spectrum. Glob Med Genet. 2025.12 (2)100036 PMID:40027240

Baskar, D, Ganji, SR, Thomas, A, Polavarapu, K, Nandeesh, BN, Sanka, SB et al.. MICU1 related myopathy - a rare report from India. J Neuromuscul Dis. 2024.11 (6)1295-1299 PMID:39973469

Baskar, D, Thomas, A, Boddu, VK, Santhoshkumar, R, Anjanappa, RM, Nashi, S et al.. A rare case of myopathy with fatigability due to PYROXD1 variation. J Neuromuscul Dis. 2024. 22143602241301635 PMID:39973409

Malaichamy, S, Idoux, R, Polavarapu, K, Šikić, K, Holla, E, Thompson, R et al.. Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle. Brain. 2025. PMID:39970126

Laurie, S, Steyaert, W, de Boer, E, Polavarapu, K, Schuermans, N, Sommer, AK et al.. Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses. Nat Med. 2025.31 (2)478-489 PMID:39825153

Neuhoff, K, Kilicarslan, OA, Preuße, C, Zaum, AK, Kölbel, H, Lochmüller, H et al.. Expanding the Molecular Genetic Landscape of Dystrophinopathies and Associated Phenotypes. Biomedicines. 2024.12 (12) PMID:39767645

Sridhar, S, Nashi, S, Kulanthaivelu, K, Vengalil, S, Baskar, D, Polavarapu, K et al.. Magnetic resonance imaging in idiopathic inflammatory myopathies: deciphering the pattern of muscle involvement. Neuromuscul Disord. 2024.47 105257 PMID:39756250

Weisburd, B, Sharma, R, Pata, V, Reimand, T, Ganesh, VS, Austin-Tse, C et al.. Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets. Genet Med. 2024. 101336 PMID:39670433

Estévez-Arias, B, Matalonga, L, Yubero, D, Polavarapu, K, Codina, A, Ortez, C et al.. Correction: Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases. Eur J Hum Genet. 2024. PMID:39658675

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