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 patients
Read MoreI 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
Read More
Identification of causal variants together with the potential mechanism contributing to differential disease risk among individuals can offer most critical insights into the proper understanding of complex diseases. So far, Genome-Wide Association Studies have been remarkably successful in identifying genetic variants associated with various complex diseases. However, the interpretation of G
Read More
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 i
Read MoreIn recent years, both in early and advanced stages of cancer, cell-free DNA (cfDNA) based liquid biopsy has emerged as a promising non-invasive approach for detecting tumor-specific genetic signature in plasma/serum, studying tumor heterogeneity, dynamic assessment of disease status, monitoring therapy response and also longitudinal following up of cancer patients. As tumor released cfDNA retai
Read MorePancreatic 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
Read MorePregnancy is a complex physiological process associated with successive changes in the uterine environment that facilitates childbirth. The period of gestation varies from 37-42 weeks in Term Birth and < 37 weeks in Preterm Birth (PTB). Globally, PTB is one of the leading cause of child mortality and morbidity. Many preterm survivors face a lifetime of disability, including respiratory, learni
Read More
Primary angle closure glaucoma (PACG) is one of the leading causes of blindness worldwide with a complex genetic etiology. Several anatomical factors like shallow anterior chamber depth, increased lens thickness, narrow iridocorneal angle etc are involved in the pathogenesis of PACG which could raise intraocular pressure followed by optic neuropathy and subsequent blindness. In India, ~30%
Read More
Oral cancer is the most common cancer among Indian men. In spite of many therapeutic advancements, there has been no significant improvement in the survival outcome of head and neck squamous cell carcinoma. Five year survival rate in advanced stage carcinoma is only 27% & it has high chance of relapse. Recently it is known that tumor microenvironment and stromal components (e.g- fibroblast
Read More
Breast cancer is one of the most common cancers and the second most leading of cancer death in women. Breast cancer is hormone dependent tumor and estrogen is known to play a major role in the initiation and progression of this cancer. Endocrine therapy is the best therapy for breast cancer. But resistance to endocrine therapy is common. Previous studies account for only 40% of such mechanis
Read More