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May 11, 2020
Category: News
Posted by: geneticsadmin
CMS - 2.2.10 - Spuzzum

Pro. B. K. Thelma (Superannuated)


The broad area of work in Thelma lab is Human genetics and Medical genomics, a discipline with considerable and contemporary societal relevance. The primary focus of research work is to unravel the genetic basis of single gene as well as complex disorders using the genetically distinct Indian populations, related functional genomics and possible translation of the findings for preventive (genetic) testing and novel therapeutics/drug discovery.

Discovery of putative disease causal gene(s) underlying inherited forms of brain disorders as Intellectual Disability, Schizophrenia and Parkinson’s disease is being pursued with whole exome sequencing approaches whereas genome-wide association strategy is used for sporadic polygenic disorders including Rheumatoid Arthritis, Inflammatory Bowel Disease etc. A novel approach combining the principles of Ayurveda with genome analysis tools (Ayurgenomics) to address the major limitation of clinical/phenotypic heterogeneity in complex disorders is also being explored in the laboratory.

Functional characterization of the novel genetic findings from the above strategies to understand their likely role in the biology of respective diseases is being carried out using suitable cell lines. Promising leads are being taken forward for development of novel therapeutics using extensive in silico analyses and animal model of disease. A novel initiative on Newborn screening for inborn errors of metabolism with clinical collaborators from across Delhi state is an additional effort in the direction of predictive, preventive, personalized and participatory (P4) medicine.

Selected publications:

  • John J, Sharma A, Kukshal P, Bhatia T, Nimgaonkar VL, Deshpande SN, Thelma BK. Rare Variants in Tissue Inhibitor of Metalloproteinase 2 as a Risk Factor for Schizophrenia: Evidence From Familial and Cohort Analysis. Schizophr Bull doi: 10.1093/schbul/sbx196, 2018.
  • Sudhaman S, Muthane UB, Behari M, Govindappa ST, Juyal RC, Thelma BK. Evidence of mutations in RIC3 acetylcholine receptor chaperone as a novel cause of autosomal-dominant Parkinson's disease with non-motor phenotypes. J Med Genet. 53(8):559-66, 2016.
  • Sudhaman S, Prasad K, Behari M, Muthane UB, Juyal RC, Thelma BK. Discovery of a frameshift mutation in podocalyxin-like (PODXL) gene, coding for a neural adhesion molecule, as causal for autosomal-recessive juvenile Parkinsonism. J Med Genet. 53(7):450-6, 2016.