Kiran Polavarapu
Research Interests: Inherited Neuromuscular diseases, Neurogenetics, Next generation sequencing (NGS) analysis, Neuromuscular junction disorders, Primary Muscle disorders, Muscular dystrophies, Congenital myopathies
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Biography
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-Girdle 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 Myasthenic Syndrome.
Recent Publications
Keerthipriya, MS, Kotambail, A, Deekshitha, M, Mahima, R, Ramyashree, MB, Rao, BM et al.. Clinical trajectories and genetic profiles of SOD1-related amyotrophic lateral sclerosis: insights from a single-center cohort in India. J Neurol. 2026.273 (1)72 PMID:41511639
Kilicarslan, OA, Gangfuß, A, Hentschel, A, Kölbel, H, Muhmann, D, Töpf, A et al.. A Homozygous CPSF1 Variant Causes Congenital Cataract, Intellectual Disability and Hyperphagia. Clin Genet. 2026. PMID:41498167
Yépez, VA, Demidov, G, Ellwanger, K, Laurie, S, Luknárová, R, Joseph Maran, MI et al.. Author Correction: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease. Nat Genet. 2026.58 (1)231 PMID:41495481
Aksel Kilicarslan, O, Gangfuß, A, Kölbel, H, Muhmann, D, Polavarapu, K, Thompson, R et al.. Combined Histological and Proteomic Analysis Reveals Muscle Denervation in KMT5B-Related Neurodevelopmental Disorder: A Case Report. J Clin Med. 2025.14 (24) PMID:41464539
Ratnaike, TE, Kule, ME, Paramonov, I, Matalonga, L, Polavarapu, K, Olimpio, C et al.. A systematic analysis of mitochondrial aminoacyl tRNA synthetase variants in a rare disease cohort. Eur J Hum Genet. 2025. PMID:41454053
Baskar, D, Tumulu, SK, Polavarapu, K, Huddar, A, Unnikrishnan, G, Vengalil, S et al.. Novel muscle MRI features in Desmin related myasthenic myopathy. Neuromuscul Disord. 2026.58 106302 PMID:41406637
Labella, B, Brochier, G, Beuvin, M, Lacene, E, Chanut, A, Madelaine, A et al.. Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review. J Neuromuscul Dis. 2025. 22143602251393910 PMID:41252304
Baskar, D, Polavarapu, K, Kotambail, A, Arunachal, G, Tumulu, SK, Kotra, M et al.. An interesting report of POPDC3 limb girdle muscular dystrophy R26 from India. J Neuromuscul Dis. 2025. 22143602251370589 PMID:41026953
Yépez, VA, Demidov, G, Ellwanger, K, Laurie, S, Luknárová, R, Joseph Maran, MI et al.. The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease. Nat Genet. 2025.57 (10)2361-2370 PMID:40926087
Harkness, JR, McDermott, JH, Marsden, S, Jamieson, P, Metcalfe, KA, Khan, N et al.. Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series. Lancet Neurol. 2025.24 (8)667-680 PMID:40683276
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