Reproductive Genetics

Our laboratory is committed to investigating the genetic and epigenetic mechanisms underlying Disorders of Sex Development (DSDs), human infertility, and Polycystic Ovary Syndrome (PCOS). Despite their profound impact on affected individuals and families, DSDs remain relatively underexplored genetic conditions. We strive to identify novel genetic variants and elucidate their functional significance, with the ultimate aim of improving clinical management for DSD patients. In addition, we are exploring the regulatory functions of microRNAs and lncRNAs in human reproduction and their roles in idiopathic infertility. Our research also extends to examining steroidogenic and inflammatory pathways involved in the pathogenesis of PCOS.

Haematological Diseases

Our team is dedicated to exploring the genetic and molecular basis of both congenital and acquired forms of erythrocytosis. We focus on identifying novel genetic variants, studying epigenetic regulation, and examining key pathways involved in abnormal red blood cell production. Through this research, we aim to close existing knowledge gaps and enhance diagnostic accuracy, risk assessment, and clinical care for patients with unexplained or idiopathic erythrocytosis.

Genetic Disorders

We focus on the early and accurate identification of genetic variations, which enables precise diagnosis, effective counselling, and personalized therapeutic interventions. We strive to uncover the molecular mechanisms that drive disease patterns and the diverse phenotypes observed in probands. Through this approach, we aim to bridge the gap between diagnosis and clinical care, ultimately contributing to a better understanding of the  genetic disorders.

Characterization of chromosomal rearrangements

We are actively engaged in detecting and characterizing novel chromosomal anomalies linked to various genetic disorders, employing both conventional and molecular cytogenetic techniques

Ongoing

1. Project Title: Elucidating the association of serum protein levels and genetic polymorphisms of FABP4 with obesity and breast cancer risk in post-menopausal obese women. 

Funding Agency: Indian Council for Medical Research (2023-2026)

Budget: Rs. 84,00,000/-

Principal Investigator: Dr. Suresh Kumar R

2. Project Title: Elucidating the contribution of aberrant mRNAs and differentially expressed micro RNAs of sperm RNA transcriptome to the etiopathogenesis of idiopathic male infertility and evaluating their potentials as novel diagnostic biomarkers

Funding Agency: Department of Health Research (2023-2026)

Budget: Rs.51,00,000/-

Principal Investigator: Dr. Suresh Kumar R

Services 

Karyotype analysis

Fluorescent In Situ Hybridization (FISH)

. Metaphase and interphase FISH analysis from human peripheral, bone marrow and tissue samples.

Molecular biology

Trainings at CGL 

Short term postgraduate projects program (Duration: 2-3 Months)

Short term training program (Duration: 3 Months)

Peripheral blood culture, GTG banding, metaphase screening, karyotype analysis (manually and software)

, Fluorescence in situ hybridization (FISH) analysis, DNA and RNA isolation, DNA and RNA quantitation, Agarose gel electrophoresis, Primer Designing, Multiplex PCR, Allele specific PCR, PCR-RFLP, cDNA synthesis, Real-Time PCR, Electropherogram reading, NGS data analysis.

Training program in genetic diagnosis (Duration: 6 Months)

Conventional Cytogenetics: Peripheral blood and bone marrow culture, different types of banding techniques, manual metaphase screening, manual as well as software assisted karyotype analysis, Karyotype reporting according to the latest  ISCN rules

Molecular Cytogenetics: Metaphase and interphase Fluorescence in situ hybridization (FISH) analysis in haematological malignancies as well as  and in various genetic disorders, FISH Reporting according to the latest  ISCN rules.

Molecular Techniques: DNA and RNA isolation from peripheral blood, bone marrow and tissues, DNA and RNA quantitation, Agarose gel electrophoresis, Primer Designing, Multiplex PCR, Allele specific PCR, PCR-RFLP, cDNA synthesis, SNP analysis, Real-Time PCR, electropherogram reading, reporting of genomic variation according to HGVS nomenclature, NGS data analysis, and reporting of genomic variation according to ACMG guidelines.

 2025

Biju J, Raveendran SK, Guruprasad KP, Reghunathan AK, George A (2025). Epigenetic Dysregulation in Idiopathic Male Infertility: The Role of Aberrant Histone Post-Translational Modifications. Reproductive Toxicology:109129.

 Martin M, Rema LP, George N, Francis R, Gilvaz S, Francis J, Divya PJ, Varghese PR, Kumar RS (2025). Haplotype-based association of CYB5A gene polymorphisms (rs1790834 and rs1790858) with polycystic ovary syndrome in a south Indian cohort. Gene. 2025:149806.

Francis J, Sebastian H, Daniel S, Gilvaz S, TS Ragitha, Susan George S, Varghese L, Varghese PR, Raveendran SK (2025). Association of the MCP-1 rs1024611 Polymorphism with Polycystic Ovary Syndrome in the Indian Population. International Journal of Fertility and Sterility. 19(1):44-49.

2024

Usha K N Pai, Ragitha TS, Aboobacker Mohammed Rafi, Mithun Chacko John, Soumya Raj, Jerry Earali, Suresh Kumar Raveendran (2024). Genetic analysis of driver mutations in Classical Myeloproliferative Neoplasms- a study from South Indian tertiary care center . The Egyptian Journal of Haematology. 49(4):444-7.

2023

Raj S, Varghese L, Narayanan PV, Raveendran SK, Varghese PR, George A (2023). Identification of heterochromatic variations in nonsyndromic cleft lip and palate . Journal of Orofacial Sciences.15(1):55-60.

Ragitha TS, Sunish KS, Gilvaz S, Daniel S, Varghese PR, Raj S, Francis J, Kumar RS (2023). Mutation analysis of WNT4 gene in SRY negative 46, XX DSD patients with Mullerian agenesis and/or gonadal dysgenesis-An Indian study. Gene.861:147236.

2022

Raj TA, Gopinath P, Raj JG, Narayanan G, Nair SG, Philip DS, Raveendran S, Geetha P, Sreedharan H (2022). Acute myeloid leukemia patients with variant or unusual translocations involving chromosomes 8 and 21–A comprehensive cytogenetic profiling of three cases with review of literature . Journal of Cancer Research and Therapeutics.  18(3), pp.697-703.

2019

Raveendran SK, Ramachandran L, Joseph L, Asokan AK, Raj S, George A, James J (2019). A novel SRY gene mutation c. 266 A> T (p. E89V) in a 46, XY complete gonadal dysgenesis patient. Andrologia. 51(9):e13377.

Chandran RK, Geetha N, Sakthivel KM, Kumar RS, Krishna KM, Sreedharan H. (2019). Differential gene expression changes and their implication on the disease progression in patients with Chronic Myeloid Leukemia. Blood Cells, Molecules, and Diseases. 77:51-60. Chandran RK, Geetha N, Sakthivel KM, Kumar RS, Krishna KM, Sreedharan H (2019). Impact of Additional Chromosomal Aberrations on the Disease Progression of Chronic Myelogenous Leukemia. Frontiers in oncology. 9.

2017

Santhi S, Sangeetha V, Sureshkumar R, Sreeja L, George PS, Geetha N, Hariharan S.(2017). Risk effects of  XRCC1Arg399Gln and XPD Lys751Gln gene polymorphisms in de novo acute myeloid leukemia–A study from India. Indian Journal of Biotechnology, 16(3):275-283.

2016

Sangeetha Vijay, Geetha N, Santhi sarojam, Sureshkumar Raveendran, Hariharan sreedharan.(2016). Enigmatic Inv(9): A case report on rare findings in hematological malignancies. Iran Red Crescent Med J, 18(4): e25062.

2015

Sureshkumar Raveendran, Santhi  Sarojam, Sangeetha Vijay,  Shruti  Prem,  Hariharan Sreedharan.(2015). A case report of concurrent IDH1 and NPM1 mutations in a Novel t(X;2)(q28;p22) in Acute Myeloid Leukaemia without maturation (AML-M1). Malays J Med Sci,22(5): 93-97.

Santhi Sarojam, Sureshkumar Raveendran, Sangeetha Vijay, Jayadevan Sreedharan, Geetha Narayanan, Hariharan Sreedharan.(2015). Characterization of CEBPA Mutations and  Polymorphisms and their Prognostic Relevance in De Novo Acute Myeloid Leukemia Patients. Asian Pac J Cancer Prev,16(9):3785-92.

Sureshkumar Raveendran, Santhi Sarojam, Sangeetha Vijay, Aswathy Chandran Geetha, Jayadevan Sreedharan, Geetha Narayanan, Hariharan Sreedharan. (2015).  Mutation Analysis of  IDH1/2 Genes in Unselected De novo Acute Myeloid Leukaemia Patients in India – Identification of a Novel IDH2 Mutation. Asian Pac J Cancer Prev,16(9):4095- 101.

2014Santhi Sarojam, Sangeetha Vijay, Sureshkumar Raveendran,Jayadevan Sreedharan, Geetha Narayanan, Hariharan Sreedharan. (2014). FLT3 Mutation as a Significant Prognostic Marker in de novo Acute Myeloid Leukemia Patients: Incidence, Distribution and Association with Cytogenetic Findings in a Study from South India.