Using the mammalian transcriptome to understand disease

Mater Research have organised a special seminar by Professor Kim Summers of the The Roslin Institute, University of Edinburgh.  

Abstract

The first step in expressing a gene to produce a phenotype is for it to be transcribed from DNA into RNA. Established and emerging technologies can provide quantitative measures of the amount of RNA produced from all genes in the genome as well as qualitative information about alternative start and stop sites, splice variants and allelic bias.

These studies of the transcriptome are increasing understanding of normal and pathological processes in development and disease. We have used expression microarrays, RNA sequencing and cap analysis of gene expression (CAGE) to examine a range of questions relating to human and animal disease, including developmental abnormalities of the eye, Marfan syndrome and adipogenesis, regional differences in neuronal gene expression, the cardiovascular and gastrointestinal systems.