Description |
In this era of data intensive research, web-based tools and platforms are crucial for enhancing its translational potential. In this context, MitoLSDB and MtSNPscore will be discussed which were designed to systematically compile and analyze the role of human mitochondrial DNA (mtDNA) variation in diseases, respectively. MtSNPscore is a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease. It is a comprehensive weighted scoring system for identification of mtDNA variation that can impact pathogenicity and would likely be disease-associated. Our analysis of ataxia and other publicly available data indicated that rare variants comprise the largest part of disease-associated variations, which is contrary to the otherwise popular common variant hypothesis. During the analysis of datasets through MtSNPscore, it was realized that there is no central database of mtDNA variations with standard data ontology and format. This lead to the creation of MitoLSDB, a database encompassing information from 5231 individuals, 675 populations and 27 phenotypes. This provides a comprehensive resource to study genotype to phenotype correlations. The main goal of MitoLSDB is to provide a central platform for direct submissions of novel variants that can be curated by the Mitochondrial Research Community. MitoLSDB houses information on all 37 genes in each population amounting to 132397 variants, 5147 unique variants.
The last part of the talk will provide a very brief overview of the Open Source Drug Discovery (OSDD) project, an alternative innovation model for drug discovery. Launched in September 2008, funded by the Government of India, OSDD is a Council of Scientific and Industrial Research (CSIR) lead initiative towards developing drugs for neglected diseases with global partnerships. Its first target disease is Tuberculosis (TB) and has now been extended to Malaria. OSDD is a global community of 7600 registered users from over a 130 countries. The major goal of OSDD is to facilitate access of new drugs/combinations to Indian TB patients by paving way for their availability by conducting clinical trials in India. The talk will give a brief on how crowdsourcing has been used as a way to solve complex challenging problems in drug discovery specifically focusing on systems biology models of Mycobacterium-tuberculosis towards prediction of potential drug targets.
|