Visiting scientist, Max Planck Institute for Molecular Genetics, Berlin, Germany
Visiting Scientist, Dept. of Psychiatry, Hadassah Medical Centre, Jerusalem, Israel
Visiting scientist, Dept. of Psychiatry, Western Psychiatric Institute and Clinic, University of Pittsburgh, Pittsburgh, USA
Fogarty International Research Career Award- Univ. Pittsburgh, USA
Visiting Scientist- Dept. of Human Genetics, Memorial Sloan Kettering Cancer Centre, New York, USA
Biotechnology Associateship- Institute of Human Genetics, Berlin, Max-Planck Institute, Munich, and Physical Chemistry Institute, Heidelberg, Germany
Biotechnology Associateship- Centre for Cellular and Molecular Biology, Hyderabad
Ph.D. Students : Awarded 18 Registered 8
M.Phil. Students : Awarded 3
Total Publications : 84
I. Research papers published in Refereed/Peer Reviewed Journals: (LAST FIVE YEARS)
Juyal G, Mondal M, Luisi P, Laayouni H, Sood A, Midha V, Heutink P, Bertranpetit J, Thelma BK, Casals F. Population and genomic lessons from genetic analysis of two Indian populations. Hum Genet. 2014 Jul 1. [Epub ahead of print]
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. Evaluation of European coeliac disease risk variants in a north Indian population. Eur J Hum Genet (2014) doi:10.1038/ejhg.2014.137
Juyal G, Negi S, Sood A, Gupta A, Prasad P, Senapati S, Zaneveld J, Singh S, Midha V, van Sommeren S, Weersma RK, Ott J, Jain S, Juyal RC, Thelma BK Genome-wide association scan in a north Indian cohort identifies three novel HLA independent susceptibility loci in ulcerative colitis. Gut (2014) May 16. pii: gutjnl-2013-306625. doi: 10.1136/gutjnl-2013-306625. [Epub ahead of print]
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 Convergent evolution in European and Rroma populations reveals pressure exerted by plague on Toll-like receptors Proc Natl Acad Sci 111(7), 2668-2673 (2014).
Senapati S, Singh S, Das M, Kumar A, Gupta R, Kumar U, Jain S, Juyal RC and Thelma BK Genome-wide analysis of Methotrexate pharmacogenomics in rheumatoid arthritis reveals multiple novel risk variants and leads for TYMS regulation. Pharmacogenet Genomics. 24(4):211-9 (2014).
Antony Michealraj K, Jatana N, Jafurulla M, Narayanan L, Chattopadhyay A, Thelma BK. Functional characterization of rare variants in human dopamine receptor D4 gene by genotype-phenotype correlations. Neuroscience. 262:176-89 (2014).
Thenral S. Geetha , K.Antony Michealraj, Kabra M, Kaur G, Juyal RC, BK Thelma 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 (2014)
Ajit Sood, Devendra Amre, Vandana Midha, Suresh Sharma, Neena Sood, Amandeep Thara, Manu Bansal, Garima Juyal, BK Thelma, Ernest Seidman. Low hygiene and exposure to infections may be associated with increased risk for ulcerative colitis in a North Indian population. Annals of Gastroenterology (2014) 27, 1-5.
Kukshal P, Chowdari KV , Srivastava V, Wood J, McClain L, Bhatia T, Bhagwat A M, Deshpande SN, Nimgaonkar VL, Thelma BK. Dopaminergic gene polymorphisms and cognitive function in a north Indian schizophrenia cohort J Psychiatr Res. 47(11):1615-22 (2013).
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).
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).
Kukshal P, Bhatia T, Bhagwat AM, Gur RE, Gur RC, Deshpande SN, Nimgaonkar VL, Thelma BK Association study of Neuregulin-1 gene polymorphisms in a north Indian schizophrenia sample Schizophrenia Research 144(1-3):24-30 (2013)
Kukshal P, Thelma BK, Nimgaonkar VL, Deshpande S. Genetics of schizophrenia from a clinicial perspective. International Review of Psychiatry 24(5): 393–404(2012)
Fransen K, Mitrovic M, van Diemen CC, Thelma BK, Sood A, Franke A, Schreiber S, Midha V, Juyal G, Potocnik U, Fu J, Nolte I, Weersma RK. Limited evidence for parent-of-origin effects in inflammatory bowel disease associated loci. PLoS One. 2012;7(9):e45287.
Juyal RC, Negi S, Wakhode P, Bhat S, Bhat B, Thelma BK. Potential of ayurgenomics approach in complex trait research: leads from a pilot study on rheumatoid arthritis. PLoS One.7(9):e45752 (2012).
Prasad P, Kumar A, Gupta R, Juyal RC, Thelma BK. Caucasian and Asian specific rheumatoid arthritis risk loci reveal limited replication and apparent allelic heterogeneity in north Indians. PLoS One.;7(2) (2012)
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. 43(12):1193-201(2011)
Mittal K, Kabra M, Juyal R, BK Thelma. De novo deletion in MECP2 in a monozygotic twin pair: a case report. BMC Med Genet. ;12:113 (2011)
Indhumathi N, Singh D, Chong SS, Thelma BK, Arabandi R, Srisailpathy CR. Fragile X CGG repeat variation in Tamil Nadu, South India: a comparison of radioactive and methylation-specific polymerase chain reaction in CGG repeat sizing. Genet Test Mol Biomarkers. 2012 Feb;16(2):113-22. Epub 2011
Punia S, Das M, Behari M, Dihana M, Govindappa ST, Muthane UB, Thelma BK, Juyal RC. Leads from xenobiotic metabolism genes for Parkinson's disease among north Indians. Pharmacogenet Genomics.;21(12):790-7(2011).
Sapna Negi, Ashok Kumar, B K Thelma, Ramesh C Juyal, Association of Cullin1 haplotype variants with Rheumatoid Arthritis and response to Methotrexate Pharmacogenetics and Genomics. 21(9):590-3(2011)
Mittal K, Gupta N, Kabra M, Juyal R, Thelma BK. Distinct de novo deletions in a brother-sister pair with RTT: A case report Am J Med Genet B Neuropsychiatr Genet. :156B(7):859-63(2011)
Thomas P, Chandra A, Bhatia T, Mishra NN, Sharma VR, Gauba D, Wood J, Chowdari K, Semwal P, Thelma BK, Nimgaonkar VL, Deshpande SN Clinical and genetic correlates of severity in schizophrenia in India: An ordinal logistic regression approach Psychiatric Research;189(2):321-3 (2011). -- 3.827
Juyal G, Prasad P, Senapati S, Midha V, Sood A, Amre D, Juyal RC, Thelma BK. An investigation of genome-wide studies reported susceptibility loci for ulcerative colitis shows limited replication in north Indians. PLoS One. 2011 Jan 31;6(1):e16565.
Sohan Punia, Mitashree Das, Madhuri Behari, Bikash K. Mishra, Asish K. Sahani, Shyla T. Govindappa, Sachi Jayaram, Uday B. Muthane, Thelma BK and Ramesh C. Juyal. Role of polymorphisms in dopamine synthesis and metabolism genes and association of DBH haplotypes with Parkinson’s disease among north Indians. Pharmacogenetics and Genomics 20:435–441 (2010)
Prasad P, Tiwari AK, Kumar KM, Ammini AC, Gupta A, Gupta R, Thelma BK. Association analysis of ADPRT1, AKR1B1, RAGE, GFPT2 and PAI-1 gene polymorphisms with chronic renal insufficiency among Asian Indians with type-2 diabetes. BMC Med Genetics, 2010; 11:15
Srivastava V, Deshpande SN, Thelma BK. Dopaminergic pathway gene polymorphisms and genetic susceptibility to schizophrenia among north Indians. J. of Neuropsychogbiology 2010;61(2):64-70
Sharma S, Das M, Kumar A, Marwaha V, Shankar S, Singh P, Raghu P, Aneja R, Grover R, Arya V, Dhir V, Gupta R, Kumar U, Juyal R, Thelma BK. Purine biosynthetic pathway genes and methotrexate response in rheumatoid arthritis patients among North Indians Pharmacogenetics and genomics. 19(10): 823-828, Oct 2009
Guruju MR, Lavanya K, Thelma BK, Sujatha M, Omsai VR, Nagarathna V, Amarjyothi P, Jyothi A, Anandaraj MP. Assessment of a clinical checklist in the diagnosis of fragile X syndrome in India. J Clin Neurosci. 2009 Jun 26.
Juyal G, Midha V, Amre D, Sood A, Seidman E, Thelma BK Associations between common variants in the MDR1 gene and ulcerative colitis among North Indians Pharmacogenet Genomics 19(1):77-85 (2009).
Arun K. Tiwari, Pushplata Prasad, Thelma BK, K.M. Kumar, A.C. Ammini, Arvind Gupta, Rajeev Gupta Oxidative stress pathway genes and chronic renal insufficiency in Asian Indians with Type 2 diabetes (Journal of Diabetes and Its Complications ;23(2):102-11. 2009 Mar-Apr)
II. Other than refereed /Peer Reviewed Journals
Thelma BK, Srivastava V, Tiwari AK Genetic underpinnings of Tardive dyskinesia: Passing the baton to Pharmacogenetics. Pharmacogenomics 9:1285-306 (2008)
Thelma BK and R.C.Juyal, Molecular genetics of Parkinson’s disease: Hopes and realisations .In: Brain disorders across life span: Hopes and challenges. Ranbaxy science foundation – Round table conference series, New Delhi, India (14) (2004)
Thelma BK, Prasad S, Sharma D Complexity of some complex traits. PINSA B68 No.5 pp479-496 (2002)
Prasad S, Semwal P, Deshpande S, Bhatia T, , Nimgaonkar V L, and Thelma B K. Molecular Genetics of Schizophrenia: Past, present and future. J. of Biosciences : 27(1) 101-118 (2002)
SN Deshpande, BK Thelma, VL Nimgaonkar Genetics of Schizophrenia: The Search for Markers JOSH Vol. VII:61-64 (2000)
Thelma BK and Ramesh C. Juyal ;Genetic Basis of Parkinson's Disease. Proceedings of 6th National Workshop on Movement disorders, AIIMS, New Delhi, pp27-46 (1999)
Thelma BK Human Genetics. Chapter In: National Syllabus of Genetics and Plant Breeding M.C. Kharakwal and R.B. Mehra (Eds) pp.121-131( 2001)
Thelma BK From Genomics to ‘Ayurgenomics’. In: PHISPC series on History of Science, philosophy and culture in Indian Civilisation Volume: Life and Organicism, ed N.S. Rangaswamy, Gen. Editor D.P.Chattopadhyaya (2008)
Organization of a Conference
Trends in Human Genetics, August 20- 22, 2007, Puri, Orrisa, India
Professional Societies Memberships
1. Reviewing – Reviewing manuscripts for several Journals
2. Memberships – Life member,Indian Society of Cell Biology and Indian Society of Human Genetics
Life Member, Indian Society of Human Genetics
ONGOING RESEARCH PROJECTS:
“ A novel feasibility study of newborn screening for the treatable disorders and epidemiologic data generation for inborn metabolic errors in Delhi state” (Principal Investigator) funded by Science and Engineering Research Board, Govt. of India
“Identification of rare variants and copy number variations in schizophrenia by affected sib pair analysis using next generation sequencing tools” (Principal Investigator)Funded by Department of Biotechnology, Govt. of India
“Unravelling Monogenic Causes of Mental Retardation Using Contemporary tools ” (Principal Investigator) Funded by Department of Biotechnology, Govt. of India
“Continuing research for Novel causative gene(s) for Parkinson’s disease” (Principal Investigator) Funded by Department of Biotechnology, Govt. of India
5. Centre For Excellence In Genome Sciences And Predictive Medicine (GESPREM)- two projects:
a) “ Whole Genome Association Analyses in Complex Diseases: An Indian Initiative” (Team Leader) Funded by Department of Biotechnology, Govt. of India
b) “Functional characterization of SNPs/SNP haplotypes in candidate genes” (Principal Investigator) Funded by Department of Biotechnology, Govt. of India
6. “Molecular Diagnostics: Development of Cost Effective Pre-prescription and Pre-implantation Genetic Testing” (Principal Investigator) Funded by DST-PURSE grant
COMPLETED RESEARCH PROJECTS: TWENTY ONE
In the last five years:
1. “Pharmacogenetics of Adverse Drug Reaction : Role of drug metabolizing enzymes and VKORC1 polymorphisms
in reducing drug toxicity due to antitubercular drugs and Warfarin”
Funded by Department of Biotechnology, Govt. of India
2. “Identification of Novel Gene(s) for familial Parkinson’s Disease”
Funded by Department of Biotechnology, Govt. of India
3. “Genetic Susceptibility to Rheumatoid Arthritis using a novel combination of Prakriti based case-control selection
and Molecular Analysis Tools” Funded by Ministry of Ayush, Govt. of India
4. “An exploratory analysis of genetic correlates and effects of Yoga on circadian rhythms, cognitive functions and
social burden in major mental disorders: schizophrenia, bipolar disorder and depression and their comparison with
a cardiac group” Funded by Ministry of Ayush, Govt. of India
5. ‘Methotrexate in Rheumatoid Arthritis: Pharmacogenetics & Clinico-Immunological correlates” Funded by Department of Biotechnology, Govt. of India
6. “An integrated approach for mutation analysis and identification of new gene(s) for X-linked mental retardation" Funded by Department of Biotechnology, Govt. of India
7. “Pharmacogenetics of anti-epileptic drugs role of ABCB1, CYP2C9, CYP2C19 and SCN2A in optimizing therapy” (Co-Investigator) Funded by Department of Biotechnology, Govt. of India
Signature of Faculty Member (Signature & Stamp of Head of the Department)