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, Polavarapu, K, Preethish-Kumar, V, Vengalil, S, Nashi, S, Töpf, A et al.. Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant. Neurol Genet. 2024.10 (1)e200122 PMID:38229919

Nishadham, V, Santhoshkumar, R, Nashi, S, Vengalil, S, Bardhan, M, Polavarapu, K et al.. A Novel Mutation in Frabin (FGD4) Causing a Mild Phenotype of CMT4H in an Indian Patient. J Neuromuscul Dis. 2024.11 (1)221-232 PMID:38108359

Vengalil, S, Pruthi, N, Bhat, D, Uppar, AM, Polavarapu, K, Preethish-Kumar, V et al.. Monomelic Amyotrophy/Hirayama Disease: Surgical Outcome in a Large Cohort of Indian Patients. World Neurosurg. 2023. PMID:38006932

Pugliese, A, Della Marina, A, de Paula Estephan, E, Zanoteli, E, Roos, A, Schara-Schmidt, U et al.. Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series. J Neurol. 2023. PMID:37923938

Polavarapu, K, Sunitha, B, Töpf, A, Preethish-Kumar, V, Thompson, R, Vengalil, S et al.. Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort. Brain. 2024.147 (1)281-296 PMID:37721175

Sanga, S, Chakraborty, S, Bardhan, M, Polavarapu, K, Kumar, VP, Bhattacharya, C et al.. Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy. Sci Rep. 2023.13 (1)15095 PMID:37699968

Baskar, D, Veeramani-Kumar, P, Polavarapu, K, Nashi, S, Vengalil, S, Menon, D et al.. Clinical spectrum, biochemical profile and disease progression of Kennedy disease in an Indian cohort. Intern Med J. 2023. PMID:37578398

Baskar, D, Vengalil, S, Nashi, S, Bardhan, M, Srivastava, K, Sanka, SB et al.. MYH2-related Myopathy: Expanding the Clinical Spectrum of Chronic Progressive External Ophthalmoplegia (CPEO). J Neuromuscul Dis. 2023.10 (4)727-730 PMID:37154181

Unnikrishnan, G, Polavarapu, K, Bardhan, M, Nashi, S, Vengalil, S, Preethish-Kumar, V et al.. Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients. J Neuromuscul Dis. 2023.10 (4)615-626 PMID:37154180

Yaldiz, B, Kucuk, E, Hampstead, J, Hofste, T, Pfundt, R, Corominas Galbany, J et al.. Twist exome capture allows for lower average sequence coverage in clinical exome sequencing. Hum Genomics. 2023.17 (1)39 PMID:37138343

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