Gene regulation is profoundly influenced by noncoding DNA sequence variation, yet the mechanisms linking these variants to altered transcription and disease risk remain incompletely understood. While genome-wide association studies (GWAS) have identified thousands of disease-associated loci, most lie in regulatory regions, making it difficult to determine which variants are truly functional and h ow they exert their effects. A major research gap lies in connecting genetic variation to changes in transcription factor binding, downstream gene expression, and ultimately complex disease phenotypes. AI/ML binding prediction models with epigenomic, transcriptomic, and statistical analyses to systematically identify regulatory variants that disrupt transcription factor binding. These predictions are further combined with GWAS summary data to prioritize potentially causal SNP–transcription factor interactions in complex diseases such as type 2 diabetes and coronary artery disease. Candidate regulatory mechanisms are then examined through functional validation experiments, enabling a comprehensive framework that links noncoding variation to gene regulation and disease biology. Read less
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I am deeply interested in exploring the evolutionary history of modern humans through the lens of population genetics and genomics. My research focuses on analyzing archaic admixture in present-day human populations to unravel the complex migrations, admixture events, and demographic changes that have shaped our species. A key area of my work involves studying the genetic contributions of Neander thals and other archaic hominins to modern human populations, providing insights that complement fossil and archaeological records. My study aims to provide a comprehensive understanding of human prehistory and its implications for contemporary genetic diversity. By bridging computational genomics with evolutionary biology, my work seeks to answer fundamental questions about human origins and adaptation. Read less
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Research in the last decade has shown that the genetic background for pancreatic cancer, especially pancreatic ductal adenocarcinoma (PDAC) accounts for more than 90% of all pancreatic tumours. PDAC has poor prognosis and a rising incidence rate. Late detection and threatening nature are two major causes for treatment failure. In case of treatment, identification of some biomarker molecules helps in proper diagnosis. It has been found that some specific genes accelerate cancer progression rate in multiple pathways. There are some specific genes which act as biomarkers, affecting cell cycle regulation, cell signalling mechanisms etc. My research goal is the functional characterization of specified genes which act as progression biomarker and their interaction with other molecules that help retaining cellular proliferation in pancreatic cancer.
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Pancreatic Ductal Adenocarcinoma (PDAC), the most frequent form of pancreatic cancer, is one of the major causes of cancer-related deaths worldwide. This is an aggressive and devastating cancer with a five-year survival rate of less than 9%, the lowest among common cancers. CP (Chronic Pancreatitis) is one of the major reasons to proceed toward PDAC. The mis-regulation during chronic pancreatitis may induce several epigenetic changes. The consequence of such epigenetic modification in pancreatic cancer is not known completely yet. Moreover, a reliable epigenetic feature of active enhancers is the production of enhancer-directed transcripts (eRNAs). eRNAs are tightly regulated and play important roles in gene regulation, which was previously considered as junk element inside the cell with no function. My interest is to explore the role of eRNA in PDAC and how does eRNA regulate the progression of Chronic Pancreatitis to Pancreatic Cancer. Read less
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Primary angle closure glaucoma(PACG) is a major subtype of glaucoma and its prevalence is higher among South Asians including Indians. My research interest is to investigate the functional role of genomic signatures associated with PACG and related quantitative traits. In a previous case-control GWAS from our lab, TNF-α promoter SNP rs1800629 is found to be associated with PACG in Indian patient s. Interestingly it is already identified to be associated with different glaucoma subtypes across various populations worldwide reporting either G or A as risk allele. Investigating the underlying mechanism of rs1800629 will help in revealing its involvement with neurodegeneration and neuroprotection. In another Quantitative Trait (QT) GWAS on lens thickness we reported the novel association of PTPRM genic region. My research is focused on the functional characterization of PTPRM and understanding the underlying molecular mechanisms. It will facilitate a better understanding of risk factor and disease pathophysiology. Read less
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I am a RCB-GSK fellow working in the area of biostatistics and statistical genomics. In genomic studies of complex diseases, one typically quantifies the importance of genomic features and their interactions by analyzing them individually (e.g. individual genes or variants or pathways) or in some cases as pairs of features (e.g. gene-gene interaction). However, to estimate overall risk of disease accounting for all features in the genome and interactions, analyzing one gene at a time (marginal modeling) is not adequate. Further such marginal modeling cannot assess the causal contribution of a risk factor accounting for all other factors and interactions. My research objective is to develop a high-dimensional joint model of genomic risk factors (accounting for interactions), which is both biologically interpretable and computationally tractable at the whole-genome level. Disease risk prediction being the central theme, my work involves applying various statistical and machine learning techniques in large-scale phenotype and genotype data from UK Biobank and other consortia. Read less
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The complexity of solid tumours stems from both genetic alterations within tumour cells and interactions with the surrounding microenvironment. Despite therapeutic advances, drug resistance and relapse remain major challenges, often driven by tumour heterogeneity and stromal dynamics in many solid tumours, including colorectal cancer. Therefore, my research aims to investigate the spatial heterog eneity of colorectal cancer and its impact on tumour behaviour and drug response. By elucidating the molecular and spatial interactions between cancer-associated fibroblasts and tumour epithelial cells within the tumour microenvironment, thereby contributing to the development of targeted and precision-based therapeutic strategies for colorectal cancer. Read less
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Oral squamous cell carcinoma (OSCC) accounts for more than 90% of oral cavity cancers and is a major cause of cancer mortality globally. Growing evidence suggests that the tumour ecosystem shares mechanisms and effectors with embryogenesis and is of central importance for tumorigenesis. Our earlier work has indicated that some malignant cells are expressing genes specific to fetal development, de scribed as oncofetal reprogramming. However, fetal genes expression in different malignant cell states and their function in oncofetal reprogramming in OSCC tumour ecosystem, is not yet delineated. My objective is to investigate the role of oncofetal genes of malignant cell states in cancer cell proliferation, migration and immune evasion in OSCC. Such information can facilitate in early patient stratification and differential clinical management. Read less
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Sepsis is a dysregulated host response to an infection. Often caused by antibiotic-resistant bacteria, it results in hospitalization and poor outcome, and accounts for nearly 20% of all global deaths annually. The outcome of an infection depends on pathogen-factors such as virulence and antimicrobial resistance as well as host-factors such as the immune and inflammatory responses. My aim is to undertake a comprehensive study of K. pneumoniae-mediated sepsis by dissecting the pathogen-associated molecular characteristics that impinge upon host immuno-inflammatory response and evaluating its susceptibility to antimicrobial therapy. I am also looking to examine genes in clinical isolates of K. pneumoniae involved in perpetuating virulence and resistance and investigate the transcriptome of human neutrophil exposed to certain factors associated with pathogenesis. Optimization of a suitable antimicrobial-combination therapy against K. pneumoniae is another important goal of my work.
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Pancreatic cancer is the seventh leading cause of cancer-related deaths worldwide with a lowest 5-year survival rate ( < 5% ) and poor diagnosis among other cancers. This intractable malignancy is often caused by some genetic alterations and also by pancreatic damage due to recurrent bouts of inflammation of chronic pancreatitis. In recent years, several regulatory functions of long non-coding RNAs (lncRNAs) have come to picture which were initially considered to be junk elements of the genome with no function. Role of lncRNAs in various types of cancer has been gradually revealed and in the case of pancreatic cancer also, intricate role of lncRNAs have been uncovered with implications in cell cycle, apoptosis, autophagy, epithelial-mesenchymal transition (EMT), metastasis and immune responses. But still there are several important lncRNAs which have significantly altered expression in pancreatic cancer and their functions are yet to unfold. Aim of my research project is to functionally characterize few such lncRNAs in pancreatic carcinogenesis and also to find out if they have any role in progression of pancreatitis to pancreatic cancer. Read less
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