Kiran Polavarapu

Postdoctoral Fellow

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.

Recent publications

Harikrishna, GV, Padmanabha, H, Polavarapu, K, Anjanappa, RM, Preethish-Kumar, V, Nandeesh, BN et al.. Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India. J Neuromuscul Dis. 2024. PMID:38968056

Natera-de Benito, D, Pugliese, A, Polavarapu, K, Guergueltcheva, V, Tournev, I, Todorova, A et al.. Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases. Pediatr Neurol. 2024.157 5-13 PMID:38833907

Olimpio, C, Paramonov, I, Matalonga, L, Laurie, S, Schon, K, Polavarapu, K et al.. Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease. J Neuromuscul Dis. 2024.11 (4)767-775 PMID:38759022

Steyaert, W, Sagath, L, Demidov, G, Yépez, VA, Esteve-Codina, A, Gagneur, J et al.. Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing. medRxiv. 2024. PMID:38746462

Bardhan, M, Polavarapu, K, Baskar, D, Preethish-Kumar, V, Vengalil, S, Nashi, S et al.. Identification of a Novel Intronic Mutation in VMA21 Associated with a Classical Form of X-Linked Myopathy with Autophagy. Glob Med Genet. 2024.11 (2)167-174 PMID:38736558

Polavarapu, K, O'Neil, D, Thompson, R, Spendiff, S, Nandeesh, B, Vengalil, S et al.. Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects. Neuromuscul Disord. 2024.39 10-18 PMID:38669730

Ferreira, T, Polavarapu, K, Olimpio, C, Paramonov, I, Lochmüller, H, Horvath, R et al.. Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies. J Neurol. 2024.271 (6)3546-3553 PMID:38549004

Girija, MS, Menon, D, Polavarapu, K, Preethish-Kumar, V, Vengalil, S, Nashi, S et al.. Qualitative and Quantitative Electrocardiogram Parameters in a Large Cohort of Children with Duchenne Muscle Dystrophy in Comparison with Age-Matched Healthy Subjects: A Study from South India. Ann Indian Acad Neurol. 2024.27 (1)53-57 PMID:38495238

Chawla, T, Reddy, N, Jankar, R, Vengalil, S, Polavarapu, K, Arunachal, G et al.. Myotonic Dystrophy Type 1 (DM1): Clinical Characteristics and Disease Progression in a Large Cohort. Neurol India. 2024.72 (1)83-89 PMID:38443007

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. medRxiv. 2024. PMID:38405995

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Lochmüller Lab

Hanns Lochmüller and team: research and clinical activities