S. Ramaswamy, Ph.D.
CEO of c-CAMP, Dean, inStem, NCBS, Bangalore, India
Discovery, engineering and applications of Blue Fish Protein with Red Fluorescence
Swagatha Ghosh, Chi-Li Yu, Daniel Ferraro, Sai Sudha, Wayne Schaefer, David T Gibson and S. Ramaswamy
Fluorescent proteins and their applications have revolutionized our understanding of biology significantly. In spite of several years since the discovery of the classic GFP, proteins of this class are used as the standard flag bearers. We have recently discovered a protein from the fish Sanders vitrius that shows interesting fluorescent properties – including a 280 nm stoke shift and infrared emission. The crystal structure of the wild type protein shows that it is a tetramer. We have engineered mutations to make a monomer with very similar fluorescent properties. We have used this protein for tissue imaging as well as for in cell-fluorescence successfully
Rajgopal Srinivasan, Ph.D.
Principal Scientist & Head Bio IT R&D, TCS Innovation Labs, India
Interpretation of Genomic Variation – Identifying Rare Variations Leading to Disease
Genome sequencing technologies are generating an abundance of data on human genetic variations. A big challenge lies in interpreting the functional relevance of such variations, especially in clinical settings. A first step in understanding the clinical relevance of genetic variations is to annotate the variants for region of occurrence, degree of conservation both within and across species, pattern of variation across related individuals, novelty of the variation and know effects of related variations. Several tools already exist for this purpose. However, these tools have their strengths and weaknesses. A second issue is the development of algorithms, which, given a rich annotation of variants are able to prioritize the variants as being relevant to the phenotype under investigation.
In my talk I will detail work that has been done in our labs to address both of the above problems. I will also illustrate the application of these tools that helped identify a rare mutation in the ATM gene leading to a diagnosis of AT in two infants.