Dr Krithika Sundararaman

Krithika is a geneticist with research interest in medical genetics, in particular, in understanding the genetic contribution to complex neurodevelopmental disorders.

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.

Her current research focuses on genetics of sleep disorders and on circadian clock mutations in neurological conditions.

[email protected]

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Background

After completing her Masters in Bio-medical Genetics (university topper), Krithika obtained her PhD in Science from Indian Statistical Institute for her research on deciphering the origin and migration of the Tibeto-Burman populations of North-East India, based on the molecular genetic evidence. During her PhD, she published around 14 peer-reviewed articles, presented in 10 international conferences, and was awarded the Young Scientist Award.

As a postdoctoral fellow in University of Toronto, Canada, Krithika's research focused on the identification of type 2 diabetes genetic risk factors in an admixed group, by employing genome-wide association approach. During this post doctorate, she was awarded the Banting and Best postdoctoral fellowship, published several peer-reviewed high impact journal articles and presented in various international conferences.

Later, Krithika joined as a research fellow in University College of London (UCL), where she worked in the field of epilepsy genetics and bioinformatics, focussing on the identification of candidate genes in different epilepsy types, based on the analysis of next generation sequencing data.

She joined as a Lecturer in Biomedical Science at ARU in 2020. Currently, she is working on her ongoing projects on genetics of sleep disorders and clock gene mutations in neurodevelopmental disorders. She is a member of the Biomedical Research Group.

Spoken Languages

• English
• Tamil
• Hindi
• Bengali

Research interests

• Sleep genetics
• Single nucleotide polymorphisms in different sleep disorders
• Circadian rhythm disruption and neurological conditions
• Clock gene mutations and epilepsy
• Genetics and neurodevelopmental disorders

Areas of research supervision

Current PhD students:

• Minakshi Singh (Sept 2020 to present)
• Roger Mason (Sept 2023 to present)
• Ben Travis (April 2024 to present)

Krithika welcomes enquiries from prospective postgraduate students in the areas of her research interests.

Teaching

BSc (Hons) Biomedical Science
Level 5 - Principles of Genetics (Module Leader)
Level 6 - Current Advances in Biomedical Science (Module Leader)
Level 4 - Core Biology (Module Tutor)
Level 6 - Specialist Topics in Biomedical Science (Module Tutor)
Level 6 - Blood Sciences (Module Tutor)

Qualifications

• PGCert in Higher Education and Learning, Anglia Ruskin University
• PhD in Science, Indian Statistical Institute/Jadavpur University (India)
• MSc in Bio-Medical Genetics, Dr ALM Post Graduate Institute of Basic Medical Sciences, University of Madras (India) – University Topper
• Master’s Diploma in Information Technology (MDIT), TATA InfoTech Education (India)
• BSc in Zoology, University of Madras (India)

Memberships, editorial boards

Member, Indian Society of Human Genetics (ISHG)

Research grants, consultancy, knowledge exchange

Research grants

March 2023 – May 2023: Faculty of Science and Engineering Research Pump Priming Programme 2022/23 for RA Guilherme Fernandes-Campos – Circadian rhythm and neurological disorders: a bio-informatic study of clock genes – £9,604.

Dec 2022 – Feb 2023: Faculty of Science and Engineering Research Pump Priming Programme 2022/23 for RA Emma Schubart – Circadian rhythm and neurological disorders: a bio-informatic study of clock genes – £9,604.

March 2022 – July 2022: Faculty of Science and Engineering QR Next Steps Funding Programme 2021/22 for RA Stephanie Jarman – Genetic polymorphisms in sleep disorders – £9,414 [Second supervisor].

2011 – 2012: Banting and Best Diabetes Centre (BBDC) Fellowship in Diabetes Care, for postdoctoral project 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, for a conference presentation at the European Human Genetics Conference held at Nice, France (£1,500).

Internships/summer studentships

May – June 2023: Research Internship in the School of Life Science for Hammad Asghar – Genetic polymorphisms in sleep disorders – £2,000 (stipend). Co-supervision with Dr. Francesca Panin.

May – June 2023: Research Internship in the School of Life Science for Samanatha Gair – Genetic markers for Forensic DNA Phenotyping – £2,000 (stipend). Co-supervision with Dr. Nathalie Zahra.

Jan – July 2023: Research Internship in the Faculty of Health, Education, Medicine and Social Care for Asif Ezuddin – Genetic polymorphisms in people with sleep disorders, a systematic review – £2,000 (stipend).

May – June 2022: Research, Innovation and Development Office (RIDO) Undergraduate Summer Research Grant for Marcus Soderstrom – Genetic polymorphisms in sleep disorders – £2,000 (stipend).

May – June 2022: Research, Innovation and Development Office (RIDO) Undergraduate Summer Research Grant for Theerththa Jeyarajasegaran – Clock gene mutations in epilepsy – £2,000 (stipend).

Jan – July 2022: Research Internship in the Faculty of Health, Education, Medicine and Social Care for Evie Tselentakis – Genetic polymorphisms in people with sleep disorders, a systematic review- £2,000 (stipend).

Nuffield research placements

Project - Study of genetic databases and tools

2024 - Christopher Toolan, The London Oratory School, London

2023 - Lani Philip, Greater Peterborough UTC, Peterborough

2022 - Shadrak Mushengezi, Open Academy, Norwich

Selected recent publications

Krithika has published around 30 peer-reviewed journal articles and 4 book chapters, with over 1550 citations and h-index 17.

Publications since 2014:

Coppola A, Krithika S, Iacomino M, Bobbili D, Balestrini S, Bagnasco I, Bilo L, Buti D, Casellato S, Cuccurullo C, Ferlazzo E, Leu C, Giordano L, Gobbi G, Hernandez-Hernandez L, Lench N, Martins H, Meletti S, Messana T, Nigro V, Pinelli M, Pippucci T, Bellampalli R, Salis B, Sofia V, Striano P, Striano S, Tassi L, Vignoli A, Vaudano AE, Viri M, Scheffer IE, May P, Zara F, Sisodiya SM. Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing. Epilepsia, doi: 10.1111/epi.17859.

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.

Recent presentations and conferences

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.

Media experience

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.

https://www.sciencedaily.com/releases/2014/02/140209152456.htm

https://www.eurekalert.org/pub_releases/2014-02/uoo-sng020714.php

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.

https://www.eurekalert.org/pub_releases/2008-07/plos-ami063008.php https://www.sciencedaily.com/releases/2008/07/080701221440.htm