Krithika is a geneticist with research interest in medical genetics, in particular, in understanding the genetic cause of rare diseases. She has worked on genetics of epilepsy, and on understanding the genetics of complex disease including type 2 diabetes. She has also worked in the fields of population genetics and human evolutionary genetics during her PhD.
After completing her Masters in Bio-medical Genetics, Krithika obtained her PhD in Science from Indian Statistical Institute, where she worked on deciphering the origin, migration and settlement of the Tibeto-Burman populations of North-East India, based on the molecular genetic evidences.
After gaining her PhD, she went on to work, as a postdoctoral researcher in University of Toronto, Canada, on the identification of type 2 diabetes genetic risk factors in an admixed group, by employing genome-wide association approach. Later, she became a Research Associate in University College of London (UCL), where worked in the field of epilepsy genetics, specifically in identifying the candidate genes responsible for different forms of epilepsy based on the analysis of next generation sequencing data.
She then became a Lecturer in Biomedical Science at ARU in 2020.
English, Tamil, Hindi and Bengali
Krithika’s broad area of expertise include deciphering the genetic cause of human diseases with special focus on rare diseases, by employing the state-of-art next-generation sequencing technology and tools. Based on her recent research work on epilepsy genetics, she is specifically interested in identifying the causative candidate genes or rare variants contributing to different neurodevelopmental disorders.
Krithika welcomes enquiries from prospective postgraduate students in the areas of her research interests.
BSc (Hons) Biomedical Science
Module Leader for Medical Genetics (Trimester 2, 2020)
Module Leader for Blood Sciences (Trimester 2, 2021)
Module Leader for Principles of Genetics
Contributes to Specialist Topics in Biomedical Science
MSc Applied Bioscience
Contributes to Molecular Genetics and Bioinformatics
Member of the Indian Society of Human Genetics (ISHG), India
2011-2012: Banting and Best Diabetes Centre (BBDC) Fellowship in Diabetes Care, for her postdoctoral project on identification of type 2 diabetes genetic risk factors in an admixed group, at University of Toronto, Canada (CAD 40,000 for one year)
2007: Grant from Council for Scientific and Industrial Research (CSIR), Govt. of India and Indian Statistical Institute, Kolkata, India, to present her research on the ‘possible common origin of the Tibeto-Burman and Austro-Asiatic (Mundari) Speaking Populations of India based on Y-Chromosome analysis’, at the European Human Genetics Conference held at Nice, France (£1500)
Krithika has published around 30 peer-reviewed journal articles and 4 book chapters, with over 1550 citations and h-index 17.
Publications since 2014 (in bold):
Maria Cristina Cioclu, Antonietta Coppola, Manuela Tondelli, Anna Elisabetta Vaudano, Giada Giovannini, S Krithika, Michele Iacomino, Federico Zara, Sanjay M Sisodiya, Stefano Meletti. 2021. Cortical and Subcortical Network Dysfunction in a Female Patient With NEXMIF Encephalopathy. Frontiers in Neurology, DOI: 10.3389/fneur.2021.722664.
Zagaglia S, Steel D, Krithika S, Hernandez-Hernandez L, Custodio HM, Gorman KM, Vezyroglou A, Møller RS, King Frcpch MD, Hammer TB, Spaull R, Fazeli W, Bartolomaeus T, Doummar D, Keren B, Mignot C, Bednarek N, Cross JH, Mallick AA, Sanchis-Juan A, Basu A, Raymond FL, Lynch BJ, Majumdar Frcpch A, Stamberger H, Weckhuysen S, Sisodiya SM, Kurian MA. 2021. RHOBTB2 mutations expand the phenotypic spectrum of alternating hemiplegia of childhood. Neurology, doi: 10.1212/WNL.0000000000011543.
Coppola A, Hernandez-Hernandez L, Balestrini S, Krithika S, Moran N, Hale B, Cordivari C, Sisodiya SM. 2020. Cortical myoclonus and epilepsy in a family with a new SLC20A2 mutation. Journal of Neurology, 267(8): 2221-2227.
Johannesen KM, Gardella E, Encinas AC, Lehesjoki AE, Linnankivi T, Petersen MB, Lund ICB, Blichfeldt S, Miranda MJ, Pal DK, Lascelles K, Procopis P, Orsini A, Bonuccelli A, Giacomini T, Helbig I, Fenger CD, Sisodiya SM, Hernandez-Hernandez L, Krithika S, Rumple M, Masnada S, Valente M, Cereda C, Giordano L, Accorsi P, Bürki SE, Mancardi M, Korff C, Guerrini R, von Spiczak S, Hoffman-Zacharska D, Mazurczak T, Coppola A, Buono S, Vecchi M, Hammer MF, Varesio C, Veggiotti P, Lal D, Brünger T, Zara F, Striano P, Rubboli G, Møller RS. 2019. The spectrum of intermediate SCN8A-related epilepsy. Epilepsia, 60(5):830-844.
Baldassari S, Picard F, Verbeek NE, van Kempen M, Brilstra EH, Lesca G, Conti V, Guerrini R, Bisulli F, Licchetta L, Pippucci T, Tinuper P, Hirsch E, de Saint Martin A, Chelly J, Rudolf G, Chipaux M, Ferrand-Sorbets S, Dorfmüller G, Sisodiya S, Balestrini S, Schoeler N, Hernandez-Hernandez L, Krithika S, Oegema R, Hagebeuk E, et al. 2019. The landscape of epilepsy-related GATOR1 variants. Genet Med, 21(2):398-408.
Zagaglia S, Selch C, Nisevic JR, Mei D, Michalak Z, Hernandez-Hernandez L, Krithika S, Vezyroglou K, Varadkar SM, Pepler A, Biskup S, Leão M, Gärtner J, Merkenschlager A, Jaksch M, Møller RS, Gardella E, Kristiansen BS, Hansen LK, Vari MS, Helbig KL, Desai S, Smith-Hicks CL, Hino-Fukuyo N, Talvik T, Laugesaar R, Ilves P, Õunap K, Körber I, Hartlieb T, Kudernatsch M, Winkler P, Schimmel M, Hasse A, Knuf M, Heinemeyer J, Makowski C, Ghedia S, Subramanian GM, Striano P, Thomas RH, Micallef C, Thom M, Werring DJ, Kluger GJ, Cross JH, Guerrini R, Balestrini S, Sisodiya SM. 2018. Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease. Neurology, 27;91(22):e2078-e2088.
Coppola A, Morrogh D, Farrell F, Balestrini S, Hernandez-Hernandez L, Krithika S, Sander JW, Waters JJ, Sisodiya SM. 2017. Ring Chromosome 17 Not Involving the Miller-Dieker Region: A Case with Drug-Resistant Epilepsy. Mol Syndromol, 9(1):38-44.
Rawofi L, Edwards M, Krithika S, Le P, Cha D, Yang Z, Ma Y, Wang J, Su B, Jin L, Norton HL, Parra EJ. 2017. Genome-wide association study of pigmentary traits (skin and iris color) in individuals of East Asian ancestry. PeerJ, Nov 2;5:e3951.
Norton HL, Edwards M, Krithika S, Johnson M, Werren EA, Parra EJ. 2016. Quantitative assessment of skin, hair, and iris variation in a diverse sample of individuals and associated genetic variation. Am J Phys Anthropol, 160(4):570-81.
Edwards M, Cha D, Krithika S, Johnson M, Parra EJ. 2016. Analysis of iris surface features in populations of diverse ancestry. R Soc Open Sci, 3(1):150424.
Below JE, Parra EJ, Gamazon ER, Torres J, Krithika S, Candille S, Lu Y, Manichakul A, Peralta-Romero J, Duan Q, Li Y, Morris AP, Gottesman O, Bottinger E, Wang XQ, Taylor KD, Ida Chen YD, Rotter JI, Rich SS, Loos RJ, Tang H, Cox NJ, Cruz M, Hanis CL, ValladaresSalgado A. 2016. Meta-analysis of lipid-traits in Hispanics identifies novel loci, population-specific effects, and tissue-specific enrichment of eQTLs. Sci Rep, 19;6:19429.
Edwards M, Cha D, Krithika S, Johnson M, Cook G, Parra EJ. 2016. Iris pigmentation as a quantitative trait: variation in populations of European, East Asian and South Asian ancestry and association with candidate gene polymorphisms. Pigment Cell Melanoma Res, 29(2):141-62.
Parra EJ, Botton MR, Perini JA, Krithika S, Bourgeois S, Johnson TA, Tsunoda T, Pirmohamed M, Wadelius M, Limdi NA, Cavallari LH, Burmester JK, Rettie AE, Klein TE, Johnson JA, Hutz MH, Suarez-Kurtz G. 2015. Genome-wide association study of warfarin maintenance dose in a Brazilian sample. Pharmacogenomics, 15;16(11):1253-63.
Eaton K, Edwards M, Krithika S, Cook G, Norton H, Parra EJ. 2015. Association study confirms the role of two OCA2 polymorphisms in normal skin pigmentation variation in East Asian populations. Am J Hum Biol, 27(4):520-5.
Cook GR, Krithika S, Edwards M, Kavanagh P, Parra EJ. 2014. Quantitative measurement of odor detection thresholds using an air dilution olfactometer, and association with genetic variants in a sample of diverse ancestry. PeerJ, 2:e643 http://dx.doi.org/10.7717/peerj.643.
Mahajan A et al. (including Krithika S). 2014. Genome-wide trans-ancestry metaanalysis provides insight into the genetic architecture of type 2 diabetes susceptibility. Nature Genetics, 46(3):234-44.
2018 Novel CHD2 and KIAA2022 mutations associated with eyelid myoclonia with absences, 13th European Congress on Epileptology, Vienna, Austria.
2018 Genetic and phenotypic heterogeneity of female patients with KIAA2022 mutations, 13th European Congress on Epileptology, Vienna, Austria.
2012 Evaluation of the performance of several imputation strategies in an admixed sample from Mexico City, European Human Genetics Conference
2012, Nürnberg, Germany. 2012 Evaluation of the performance of several imputation strategies in type 2 diabetes cases and controls from Mexico City, Banting and Best Diabetes Centre’s 23rd Annual Scientific Day, Toronto, Canada.
2009 Mitochondrial DNA Diversity among the Tibeto-Burman Speaking Adi Sub-Tribes of Arunachal Pradesh, India, International Symposium on Ethics, Culture and Population Genomics and the 34th Annual Conference of the ISHG, New Delhi, India.
Krithika’s research work as a part of the type 2 diabetes consortium:
Mahajan A et al. (including Krithika S). (2014) Genome-wide trans-ancestry meta- analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. Nature Genetics, 46(3):234-44.
Krithika’s PhD work:
Krithika S, Maji S and Vasulu TS. (2008) A Microsatellite Guided Insight into the Genetic Status of Adi, an Isolated Hunting-Gathering Tribe of Northeast India. PLoS ONE, 3(7): e2549.