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

Girija, MS, Menon, D, Polavarapu, K, Preethish-Kumar, V, Vengalil, S, Nashi, S et al.. Cardiac MRI in Duchenne and Becker Muscular Dystrophy. Ann Indian Acad Neurol. 2024. PMID:39344256

Estévez-Arias, B, Matalonga, L, Yubero, D, Polavarapu, K, Codina, A, Ortez, C et al.. Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases. Eur J Hum Genet. 2024. PMID:39333429

Johansson, LF, Laurie, S, Spalding, D, Gibson, S, Ruvolo, D, Thomas, C et al.. An interconnected data infrastructure to support large-scale rare disease research. Gigascience. 2024.13 PMID:39302238

Cooles, F, Vidal-Pedrola, G, Naamane, N, Pratt, A, Barron-Millar, B, Anderson, A et al.. Scientific Business Abstracts. QJM. 2024. PMID:39298287

Baskar, D, Vengalil, S, Polavarapu, K, Preethish-Kumar, V, Arunachal, G, Sukrutha, R et al.. Phenotypic Heterogeneity in ORAI-1-Associated Congenital Myopathy. Glob Med Genet. 2024.11 (4)297-303 PMID:39238562

Baskar, D, Reddy, N, Preethish-Kumar, V, Polavarapu, K, Nishadham, V, Vengalil, S et al.. GNE Myopathy: Genotype - Phenotype Correlation and Disease Progression in an Indian Cohort. J Neuromuscul Dis. 2024.11 (5)959-968 PMID:39213088

Chawla, T, Nashi, S, Baskar, D, Polavarapu, K, Vengalil, S, Bardhan, M et al.. Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India. Neurogenetics. 2024. PMID:39103709

Srivastava, K, Arshad, F, Mujawar, WJ, Cranberg, L, Rajeshwaran, J, Afsar, M et al.. Cognitive and Behavioral Profile of Patients with Amyotrophic Lateral Sclerosis Spectrum in the Indian Context. Dement Geriatr Cogn Disord. 2024. 1-11 PMID:39068922

Baskar, D, Preethish-Kumar, V, Polavarapu, K, Vengalil, S, Nashi, S, Menon, D et al.. Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort. J Neuromuscul Dis. 2024.11 (5)969-979 PMID:39058449

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. 2024.11 (5)935-957 PMID:38968056

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Lochmüller Lab

Hanns Lochmüller and team: research and clinical activities