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

Thomas, PT, Warrier, MG, Arun, S, Bhuvaneshwari, B, Vengalil, S, Nashi, S et al.. An individualised psychosocial intervention program for persons with MND/ALS and their families in low resource settings. Chronic Illn. 2022. 17423953221097076 PMID:35469482

Nishadham, V, Bardhan, M, Polavarapu, K, Vengalil, S, Nashi, S, Menon, D et al.. Thymic Lesions in Myasthenia Gravis: A Clinicopathological Study from India. J Neuromuscul Dis. 2022.9 (3)411-422 PMID:35431258

Bardhan, M, Anjanappa, RM, Polavarapu, K, Preethish-Kumar, V, Vengalil, S, Nashi, S et al.. Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C. Neurogenetics. 2022.23 (3)187-202 PMID:35416532

Vengalil, S, Polavarapu, K, Preethish-Kumar, V, Nashi, S, Arunachal, G, Chawla, T et al.. Mutation Spectrum of Primary Lipid Storage Myopathies. Ann Indian Acad Neurol. .25 (1)106-113 PMID:35342266

Ganaraja, VH, Polavarapu, K, Bardhan, M, Preethish-Kumar, V, Leena, S, Anjanappa, RM et al.. Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India. Glob Med Genet. 2022.9 (1)34-41 PMID:35169782

Beijer, D, Polavarapu, K, Preethish-Kumar, V, Bardhan, M, Dohrn, MF, Rebelo, A et al.. Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: A case report. J Neuromuscul Dis. 2022.9 (2)347-351 PMID:34897098

Chawla, T, Preethish-Kumar, V, Polavarapu, K, Vengalil, S, Bardhan, M, Puri, R et al.. Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes. J Neuromuscul Dis. 2022.9 (2)261-273 PMID:34864681

Arshad, F, Vengalil, S, Nalini, A, Polavarapu, K, Shamim, U, Jabeen, S et al.. Novel TBK1 variant associated with Frontotemporal Dementia overlap syndrome. Acta Neurol Scand. 2022.145 (4)399-406 PMID:34841512

Hiz Kurul, S, Oktay, Y, Töpf, A, Szabó, NZ, Güngör, S, Yaramis, A et al.. High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases. Brain. 2022.145 (4)1507-1518 PMID:34791078

Estephan, EP, Zambon, AA, Thompson, R, Polavarapu, K, Jomaa, D, Töpf, A et al.. Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis. Eur J Neurol. 2022.29 (3)833-842 PMID:34749429

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