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

Preethish-Kumar, V, Shah, A, Polavarapu, K, Kumar, M, Safai, A, Vengalil, S et al.. Disrupted structural connectome and neurocognitive functions in Duchenne muscular dystrophy: classifying and subtyping based on Dp140 dystrophin isoform. J Neurol. 2021. PMID:34505932

Swayang, PS, Nalini, A, Preethish-Kumar, V, Udupa, K, Yadav, R, Vengalil, S et al.. CASPR2-Related Morvan Syndrome: Autonomic, Polysomnographic, and Neuropsychological Observations. Neurol Clin Pract. 2021.11 (3)e267-e276 PMID:34484901

Schüle, R, Timmann, D, Erasmus, CE, Reichbauer, J, Wayand, M, Solve-RD-DITF-RND et al.. Correction: Solving unsolved rare neurological diseases-a Solve-RD viewpoint. Eur J Hum Genet. 2021.29 (9)1462-1465 PMID:34429526

Matalonga, L, Hernández-Ferrer, C, Piscia, D, Solve-RD SNV-indel working group, Schüle, R, Synofzik, M et al.. Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data. Eur J Hum Genet. 2021.29 (9)1466-1469 PMID:34393220

Zurek, B, Ellwanger, K, Vissers, LELM, Schüle, R, Synofzik, M, Töpf, A et al.. Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases. Eur J Hum Genet. 2021.29 (9)1459-1461 PMID:34385672

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. 2021.22 (4)271-285 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

Matalonga, L, Hernández-Ferrer, C, Piscia, D, Solve-RD SNV-indel working group, Schüle, R, Synofzik, M et al.. Solving patients with rare diseases through programmatic reanalysis of genome-phenome data. Eur J Hum Genet. 2021.29 (9)1337-1347 PMID:34075210

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