Webinar: A Systematic Examination of Gene-Disease Associations Through Text Mining Approaches
At Shire, I2E is used for systematic examination of gene-disease associations. In this webinar, Madhusudan Natarajan will discuss the value of text analytics for disease severity and genotype-phenotype association, focused on Hunter Syndrome.
This rare disease, also known as Mucopolysaccharidosis II, is caused by an X-linked deficiency in iduronate-2-sulfatase. Deriving systematic annotation around patient genotypes for disease specific mutations, and correlating these to efficacy scores, immunogenicity responses etc. can offer tremendous insight into patient genotype-phenotype relationships, as well as patient genotype-outcome relationships. A meta-analysis of immunogenicity responses to administered drugs, based on patient genotype, was recently presented to, and accepted by, the European Medicines Agency. Using text analytics, these relationships have been extended to patient registries including to fulfill reporting requirements to regulatory bodies.
This webinar is based on Shire's presentation at the Linguamatics Text Mining Summit held in October 2015.