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Cytogenetics

About

Current work in department of cytogenetics, which started from identification of chromosomal abnormalities responsible for human diseases (hematological and genetic diseases), has revealed that the various gene mutations have a role in genomic instability leading to hematological malignancies and hereditary diseases. Department has State of Art Cytogenetic facilities including Fluorescence in situ hybridization (FISH) and Spectral karyotyping (SKY). We have studied BCR-ABL gene dependent (TKD mutations) and independent mechanisms (Pharmaco genomics) to understand Imatinib drug resistance in a large cohort of chronic myeloid leukemia. The myelodysplastic syndromes (MDS) are group of clonal disorders of the hematopoietic system characterized by the presence of ineffective hematopoiesis , peripheral cytopenias and increased risk of transformation to acute myeloid leukemia. Our study on MDS revealed that along with chromosomal abnormalities and gene mutations such as ASXL1, TET2 associated with risk of the disease. We have observed that spliceosomal gene mutations associated with MDS pathogenesis. The aplastic anemia (AA) characterized by pancytopenia and various causes associated with AA development. We have studied telomere length and telomerase gene mutations (TERT,TERC,DKC1,TNF1) in idiopathic aplastic anemia. We have established that the telomere length can be considered as a diagnostic marker for AA as telomere length was maintained after immunosuppressive therapy.

Genome stability is crucial for maintaining integrity of the organism, and therefore all cells have elaborate systems to prevent, repair, or tolerate endogenous or exogenous DNA damage. In higher organisms, loss of the DNA damage signaling network often leads to cancer predisposition as well as impaired stem cell proliferation. Fanconi anemia (FA) is a rare genetic disorder and associated with 22 genes. Our study is the first study to identify FA gene mutations in Indian FA subjects. We have studied genotype correlation in FA. The current research focus is to identify and characterization of novel genes in FA. We have International collaboration with National Human Genome Research Institute, National Institutes of Health, Bethesda, USA and Radiation Biology Centre, Laboratory of DNA damage signaling, Kyoto University, Japan.

Our department offering genetic genetic services to the patients suspected with genetic diseases. The department has well trained, dedicated team to carry out the research work.

Department Staff

Sr. No. Name Designation Email ID
1 Dr. V. Babu Rao Scientist F vbaburao@hotmail.com / v.baburao@gov.in
2 Mr. Somprakash Dhangar Technical Assistant
3 Mr. Jagadeeshwar Ghatanatti Technician C
4 Mr. Anup Jadhav Lab Assistant

Projects

Projects Ongoing

  • Molecular study of telomerase RNA component (TERC) gene and telomerase reverse transcriptase (TERT) gene and dyskeratosis congenita (DKC1) gene in idiopathic aplastic anemia (Funded by ICMR, 2015 - 2018)
  • Molecular study of JAK2, MPL and CALR genes in BCR-ABL negative myeloproliferative neoplasm patients (Funded by ICMR, 2015 - 2018)
  • Collaborative effort to understanding and characterization of novel molecular changes in Fanconi anemia (FA) [Funded by DST- JSPS (Indo-Japan Bilateral exchange programme), 2015 – 2018]
  • Molecular study of SRC kinase family gene (Lyn, Hck) in drug resistance chronic myeloid leukemia (Funded by ICMR, 2016 - 2018)
  • Study of Genotypes, Phenotypes and search for new genes in patients of Fanconi anemia with no mutations in known genes (Funded By DST, 2017 - 2020)
  • Genetic and Epigenetic Study of Myelodysplastic Syndromes (Funded By ICMR, 2015 - 2018)
  • Study of Splice factor mutation and risk assessment in primary myelodysplastic syndromes (ICMR-2018-2021)
  • Study of clinical and genetics predictors in myelodysplastic syndromes (2018-2021)

Projects Completed:

  • Study of Single Nucleotide Polymorphisms (SNPs) of Multiple Candidate Genes (ABCB1, ABCG2, CYP3A4, CYP3A5, SLCO1B3, AGP1, SLC22A1) in imatinib resistance Chronic Myeloid Leukemia (Funded by CSIR, 2014 - 2017)
  • Understanding the molecular mechanism of oxidative stress and ,itochondrial function in impaired Fanconi Anemia pathway (Funded by ICMR, 2013 - 2017)