B.K. Thelma

Medical genomics and translational science occupies a pivotal position in contemporary biomedical research. As a Centre of excellence on “Genome Sciences and Predictive Medicine” multiple aspects of research are being pursued in the laboratory by employing an interdisciplinary approach- fostering synergy amongst geneticists, medical practitioners, biochemists, cell biologists, statisticians, computational biologists and bioinformaticians.  Attempts to understand the biology of common as well as emerging complex diseases such as Rheumatoid arthritis and Ulcerative colitis respectively by genome wide search for genetic variants conferring disease susceptibility and identifying novel pathways therein; translation of this knowledge to develop novel drug molecules and generate predictive medicine tools are a major area of research focus in the lab and probably one of the very few of its kind in the country. Identification and functional analysis of critical genetic variants singly or in a haplotypic configuration for determination of phenotypes is a related area of work being pursued in the lab. Another exciting project  is on genetics of brain disorders such as Mental retardation, Parkinson’s disease and Schizophrenia where the emphasis is on novel gene identification using the rich resource of familial  forms of these disorders available  in the country combined with powerful next generation sequencing technologies. Developing predictive algorithms to enable pre-prescription testing of commonly used drugs is the long term goal of the projects under Pharmacogenomics in the laboratory.

Research interests

Broad area: Human Genetics and Medical genomics

Specific topics:

1. a. Novel disease causing gene identification in Intellectual disability, Parkinson'ds Disease, Schizophrenia etc. by next generation sequencing technologies

    b. Functional genomics to characterise the genes/mutations thus identified

2. Interdisciplinary approach to identify potential drug targets for rheumatoid arthritis and ulcerative colitis from big genome data sets and lead molecule development thereof, under the Centre of excellence for genome sciences and predictive medicine

3. Newborn screening for inborn errors of metabolism- a novel initiative in Delhi state.

4. Ayurgenomics and their utility in genetic analysis of complex traits.

Major Research Findings
Prof. B. K. Thelma’s lab has discovered new genes for mental retardation, Rheumatoid arthritis and Ulcerative colitis by genome-wide analysis of Indian populations; identified genetic determinants underlying differential drug response in Rheumatoid arthritis using genetic and computational tools and novel  variants conferring risk in Celiac disease. They have demonstrated the potential application of  ‘Ayurgenomics’ as a novel approach of combining Ayurveda with Genomics to address the clinical heterogeneity in common complex disorders such as Rheumatoid arthritis. Functional characterization of variants in the dopaminergic pathway genes with implications for lead molecule development/ translational medicine has been achieved.
Ph.D Stydents
  • Sumedha Sudhaman (awaiting PhD thesis defence)
  • Aditi Gupta (awaiting PhD thesis defense)
  • Jibin John
  • Laxmi Kirola
  • Sujit Kashyap
  • Zia Chaudhuri
  • Aditya Sharma
  • Anuj Kumar Pandey
  • Gurvisha Sandhu
  • Sumeet Kumar


 Recent Publications
  • Liu JZ, Sommeren SV, Huang H, Ng SC, Alberts R, Takahashi A, Ripke S, Lee JC, Jostins L, Shah T, Abedian S, Cheon JH, Cho J, Dayani NE, Franke L, Fuyuno Y, Hart A, Juyal RC, Juyal G, Kim WH, Morris AP, Poustchi H, Newman WG, Midha V, Orchard TM, Vahedi H, Sood A, Sung JY,Malekzadeh R, Westra HJ, Yamazaki K, Yang SK, The International Multiple Sclerosis Genetics Consortium,The International IBD Genetics Consortium, Barrett JC, Alizadeh BZ, Parkes M, Thelma BK, Daly MJ, Kubo M, Anderson CA, Weersma RK Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. Nat Genet. 2015 (In Press)
  • Juyal G, Negi S, Sood A, Gupta A, Prasad P, Senapati S, Zaneveld  E, Singh S, Midha V,  Sommeren S V, Weersma R K, Ott J, Jain S, Juyal RC, Thelma BK(2014) Genome-wide ssociation scan in north Indians reveals three novel HLA independent risk loci for ulcerative colitis GUT, 64(4):571-9 IF- 10.73
  • Laayouni H, Oosting M, Luisi P, Ioana M, Alonso S, Ricaño-Ponce I, Trynka G, Zhernakova A, Plantinga TS, Cheng S, Meer JWM, Popp R, Sood A, Thelma BK, Wijmenga C, Joosten LAB, Bertranpetit J, and Netea MG. (2014) Convergent evolution in European and Rroma  populations reveals pressure exerted by plague on Toll-like receptors. PNAS18,111(7):2668-73 (IF-9.7)
  • Thenral S. Geetha , K.AntonyMichealraj,  MadhulikaKabra, GurjitKaur,  Ramesh C. Juyal , B.K. Thelma. (2014) Targeted deep resequencing identifies MID2 mutation for X-linked Intellectual disability with varied disease severity in a large kindred from India. Hum Mutat. 35(1):41-4.IF- 5.213
  • Senapati S, Gutierrez-Achury J, Sood A, Midha V, Szperl A, Romanos J, Zhernakova A, Franke L, Alonso S, Thelma BK, Wijmenga C, Trynka G. (2014)Evaluation of European coeliac disease risk variants in a north Indian population. Eur J Hum Genet.23, 530–535IF-4.225
  • Juyal G, Mondal M, Luisi P, Laayouni H, Sood A, Midha V, Heutink P, Bertranpetit J, Thelma BK, Casals F.(2014)  Population and genomic lessons from genetic  analysis of two Indian populations. Hum Genet. 133(10):1273-87IF-4.8
  • Negi S, Juyal G, Senapati S, Prasad P, Gupta A, Singh S, Kashyap S, Kumar A, Kumar U, Gupta R, Kaur S, Agrawal S, Aggarwal A, Ott J, Jain S, Juyal RC, Thelma BK. A genome-wide association study reveals ARL15, a novel non-HLA susceptibility gene for Rheumatoid arthritis in north Indians. Arthritis Rheum. 65(12):3026-35(2013) IF - 7.477
  • Sudhaman S, Behari M, Govindappa ST, Muthane UB, Juyal RC, Thelma BK. VPS35 and EIF4G1 mutations are rare in Parkinson's disease among Indians. Neurobiol Aging. 34(10):2442.e1-3 (2013). IF -- 6.189
  • Trynka G, Hunt KA, Bockett NA, Romanos J, Mistry V, Szperl A, Bakker SF, Bardella MT, Bhaw-Rosun L, Castillejo G, de la Concha EG, de Almeida RC, Dias KR, van Diemen CC, Dubois PC, Duerr RH, Edkins S, Franke L, Fransen K, Gutierrez J, Heap GA, Hrdlickova B, Hunt S, Izurieta LP, Izzo V, Joosten LA, Langford C, Mazzilli MC, Mein CA, Midah V, Mitrovic M, Mora B, Morelli M, Nutland S, Núñez C, Onengut-Gumuscu S, Pearce K, Platteel M, Polanco I, Potter S, Ribes-Koninckx C, Ricaño-Ponce I, Rich SS, Rybak A, Santiago JL, Senapati S, Sood A, Szajewska H, Troncone R, Varadé J, Wallace C, Wolters VM, Zhernakova A; Spanish Consortium on the Genetics of Coeliac Disease (CEGEC); PreventCD Study Group; Wellcome Trust Case Control Consortium (WTCCC), Thelma BK, Cukrowska B, Urcelay E, Bilbao JR, Mearin ML, Barisani D, Barrett JC, Plagnol V, Deloukas P, Wijmenga C, van Heel DA. Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease. Nat Genet. 6;43(12):1193-201(2011) IF -- 36.37

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