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

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

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. 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. 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. PMID:33712684

Polavarapu, K, Vengalil, S, Preethish-Kumar, V, Arunachal, G, Nashi, S, Mohan, D et al.. Recessive VAMP1 mutations associated with severe congenital myasthenic syndromes - A recognizable clinical phenotype. Eur J Paediatr Neurol. 2021.31 54-60 PMID:33631708

Seshagiri, DV, Huddar, A, Nashi, S, Ray, S, Ramaswamy, P, Oommen, AT et al.. Altered REM sleep architecture in patients with Myotonic dystrophy type 1: is related to sleep apnea?. Sleep Med. 2021.79 48-54 PMID:33472130

Chen, Z, Maroofian, R, Başak, AN, Shingavi, L, Karakaya, M, Efthymiou, S et al.. Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies. Eur J Neurol. 2021.28 (4)1344-1355 PMID:33220101

Sanga, S, Ghosh, A, Kumar, K, Polavarapu, K, Preethish-Kumar, V, Vengalil, S et al.. Whole-exome analyses of congenital muscular dystrophy and congenital myopathy patients from India reveal a wide spectrum of known and novel mutations. Eur J Neurol. 2021.28 (3)992-1003 PMID:33124102

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