The use of exome sequencing for the diagnosis of newborns with severe immune diseases of uncertain underlying causes. Many were identified from population based newborn screening for severe combined immundeficiencies (SCID), that revealed low or absent T cell receptor excision circles (TRECs), a biomarker for T-cell lymphocyte production. However, the low TREC can be observed in several other rare non-SCID immune disorders as well. Genome sequencing can potentially resolve the genetic basis of these disorders through precise characterization of molecular defects in an individual newborn’s DNA. To interpret genomic variant data, we developed an analysis protocol whose distinctive features enabled solving numerous clinical cases. It integrates variant annotation, variant filtering, and gene prioritization to prioritize millions of called variants to a manageable shortlist of possible causative variants.

The advent of computational technology in the field of drug design has made modern drug discovery and design possible. The time consumed in the drug design and discovery course has been drastically reduced by the computational technology. Computational advances have provided platform for High Throughput Screening, docking studies and pharmacophore modelling which supplements the drug discovery and design process. This talk will cover the usage of computational tools in drug design with the use of two case studies from pharmaceutical industry.

Keratitis is an inflammatory disease, which can progress rapidly with corneal ulceration through pathological wound healing within 24-48 hours. The predominant cause of corneal ulceration in India is fungi, may be responsible for 60-70% of infectious keratitis cases. Many of the fungal keratitis cases are refractory to medical treatment and will require corneal transplantation. MicroRNAs are small non-coding RNAs (~22 nucleotides) which regulate gene expression by complementary binding to the 3’UTR region of target mRNAs. MicroRNAs are expressed in various ocular tissues with a distinct tissue-specific and developmental stage-specific expression pattern, which suggests potential unique functions. Recent studies have highlighted the regulatory role of miRNAs on inflammation, immune cell differentiation and host immune responses to infection. With the advent of carrier based small RNA delivery into ocular tissues, miRNAs may emerge as valuable therapeutic targets for fungal keratitis in the near future. However, this requires precise information on the dysregulated miRNAs, their tissue specific targets and the pathways regulated by them during disease, which has still not been addressed in fungal keratitis. Here, I will present the human miRNA expression profile in fungal keratitis, by genome-wide deep sequencing of the small RNA transcriptome in infected and normal human donor corneas, and highlight the regulatory role of miRNAs with focus on corneal wound healing and inflammatory responses.

The community structure of the microorganisms and their associated species define the nature of a particular environment. Changes that occur in any one environment can potentially have a tremendous impact on the other and hence, it becomes indispensable to understand the nature of species and their interactions that surrounds us. Bacteria, the omnipresent microorganism has immense capability to colonise themselves in extreme physiological conditions viz. high pressure, low temperature, low nutrient, etc. Bacterial species play a vital role in maintaining the biogeochemical pathways of a particular niche. Understanding bacterial ecology in various environments can help us to know about the native species, provide resistance to bio-invasions and unravel sources for bioactive compounds. With the advent of state-of-the-art genomic techniques viz. metagenomics, elucidation of bacterial community patterns at a particular geographic location has been extremely simplified. High-throughput sequencing has exhaustively facilitated the profiling of microbial communities at a very high resolution. The application of modern genomic techniques in studying community ecology have made things a reality, which were once seemed tantalizing.